dc.contributor | Bermudez Santana, Clara Isabel | |
dc.contributor | Cabrera Pérez, Rodrígo | |
dc.contributor | Rnomica Teórica y Computacional | |
dc.creator | Alape Ariza, Joseph | |
dc.date.accessioned | 2023-06-01T20:50:03Z | |
dc.date.accessioned | 2023-06-06T23:13:33Z | |
dc.date.available | 2023-06-01T20:50:03Z | |
dc.date.available | 2023-06-06T23:13:33Z | |
dc.date.created | 2023-06-01T20:50:03Z | |
dc.date.issued | 2023-05-31 | |
dc.identifier | https://repositorio.unal.edu.co/handle/unal/83953 | |
dc.identifier | Universidad Nacional de Colombia | |
dc.identifier | Repositorio Institucional Universidad Nacional de Colombia | |
dc.identifier | https://repositorio.unal.edu.co/ | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/6651162 | |
dc.description.abstract | El estudio de muerte súbita cardiaca es muy importante, dada la alta incidencia a nivel mundial, y en los países industrializados se ha convertido un problema de salud pública. Sin embargo, el abordaje de este tipo de muerte no es fácil, debido al componente genético de predisposición y sobre todo en muertes causas por mutaciones en genes que codifican para proteínas que constituyen los canales iónicos (canalopatías). Con el descubrimiento en los últimos años de genes asociados a este tipo de muerte, se ha recomendado realizar estudios moleculares que permitan conocer cuáles son las bases moleculares y los factores de riesgo genético de la muerte súbita cardiaca, con fines de llegar a la medicina preventiva con un apropiado concejo genético. En Colombia el estudio de muerte súbita cardiaca se ha enfocado a los estudios convencionales de patología forense, sin embargo, en algunas muertes no es fácil diagnosticar la causa de muerte y permanecen en estudio. Lo anterior lleva a realizar un estudio molecular, para conocer los genes y mutaciones de estos genes que ayuden a explicar la causa probable de muerte súbita por canalopatías cardiacas. Se analizan mutaciones en los genes que codifican proteínas para canales iónicos cardíacos, mediante el análisis exómico utilizando la secuenciación de nueva generación (NGS). Así mismo se realiza un análisis de cambios estructurales en proteínas causadas por dichas mutaciones. Adicionalmente, se analiza cual es la incidencia de mutaciones de canales iónicos en una muestra de casos cuya muerte por patología está por determinar. (Texto tomado de la fuente). | |
dc.description.abstract | The study of sudden cardiac death is very important, given the high incidence worldwide, and in industrialized countries it has become a public health problem. However, the approach to this type of death is not easy, due to the genetic component of predisposition and especially in deaths caused by mutations in genes that code for proteins that constitute ion channels (channelopathies). With the discovery in recent years of genes associated with this type of death, it has been recommended to carry out molecular studies that allow us to know what are the molecular bases and genetic risk factors of sudden cardiac death, in order to arrive at preventive medicine with an appropriate genetic advice. In Colombia, the study of sudden cardiac death has focused on conventional studies of forensic pathology, however, in some deaths it is not easy to diagnose the cause of death and they remain under study. This leads to a molecular study, to know the genes and mutations of these genes that help explain the probable cause of sudden death due to cardiac channelopathies. Mutations in genes encoding proteins for cardiac ion channels are analyzed by exome analysis using next-generation sequencing (NGS). Likewise, an analysis of structural changes in proteins caused by these mutations is performed. Additionally, it analyzes the incidence of ion channel mutations in a sample of cases whose death by pathology is to be determined. | |
dc.language | spa | |
dc.publisher | Universidad Nacional de Colombia | |
dc.publisher | Bogotá - Ciencias - Doctorado en Ciencias - Biología | |
dc.publisher | Facultad de Ciencias | |
dc.publisher | Bogotá, Colombia | |
dc.publisher | Universidad Nacional de Colombia - Sede Bogotá | |
dc.relation | Bireme | |
dc.relation | Aksnes, H., Ree, R. y Arnesen, T. (2019). Funciones cotraduccionales, postraduccionales y no catalíticas de las acetiltransferasas N-terminales. mol. Celda 73, 1097–1114. doi: 10.1016/j.molcel.2019.02.007 | |
dc.relation | A.N. Abou Tayoun, T. Pesaran, M.T. DiStefano, A. Oza, H.L. Rehm, L.G. Biesecker, ClinGen Sequence Variant Interpretation Working Group. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion, Hum. Mutat. 39 (11) (2018) 1517–1524, https://doi.org/10.1002/humu.23626 | |
dc.relation | A.S. Amin, P.G. Meregalli, A. Bardai, A.A.M. Wilde, H.L. Tan, Fever increases the risk for cardiac arrest in the Brugada syndrome, Ann. Intern. Med. 149 (2008) 216–218. doi:10.7326/0003-4819-149-3-200808050-00020 | |
dc.relation | Abbott GW. Novel exon 1 protein-coding regions N-terminally extend human KCNE3 and KCNE4. FASEB J. 2016 Aug;30(8):2959-69. doi: 10.1096/fj.201600467R. Epub 2016 May 9. PMID: 27162025; PMCID: PMC6137956 | |
dc.relation | Abriel, H., & Zaklyazminskaya, E. V. (2013). Cardiac channelopathies: Genetic and molecular mechanisms. Gene, 517(1), 1-11. | |
dc.relation | Ackerman M, Atkins DL, Triedman JK. Sudden cardiac death in the young. Circulation 2016;133:1006-26 | |
dc.relation | Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H. et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13, 1077–1109 (2011). | |
dc.relation | Ackerman, MJ et al., 2011. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 8: 1308–1339 | |
dc.relation | Adabag AS, Luepker RV, Roger VL, Gersh BJ. (2010). Sudden cardiac death: epidemiology and risk factors. Nat Rev Cardiol 7: 216–225. | |
dc.relation | Adam S. Helms and Andrea D. Thompson and Amelia A. Glazier and Neha Hafeez and Samat Kabani and Juliani Rodriguez and Jaime M. Yob and Helen Woolcock and Francesco Mazzarotto and Neal K. Lakdawala and Samuel G. Wittekind and Alexandre C. Pereira and Daniel L. Jacoby and Steven D. Colan and Euan A. Ashley and Sara Saberi and James S. Ware and Jodie Ingles and Christopher Semsarian and Michelle Michels and Iacopo Olivotto and Carolyn Y. Ho and Sharlene M. Day.Spatial and Functional Distribution of <i>MYBPC3</i> Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine, volume 13 number 5, pages: 396-405,2020, doi:10.1161/CIRCGEN.120.002929 | |
dc.relation | Adzhubei VA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting Patogénica missense mutations. Nature methods. 2010; 7: 248–249. https://doi.org/10. 1038/nmeth0410-248 PMID: 20354512. | |
dc.relation | Ahsan, T., Sajib, A.A. Missense variants in the TNFA epitopes and their effects on interaction with therapeutic antibodies—in silico analysis. J Genet Eng Biotechnol 20, 7 (2022). https://doi.org/10.1186/s43141-021-00288-y | |
dc.relation | Alabdulgader Abdullah. Genetics of Sudden Cardiac Death, the Channelopathies: Today's Perspective and the Future. Cardiol Vasc Res. 2021; 5(4): 1-13 | |
dc.relation | Alders M, Bikker H, Christiaans I. Long QT Syndrome. 2003 Feb 20 [updated 2018 Feb 8]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK1129/ Citation on PubMed | |
dc.relation | Ali J. Marian, Clinical Interpretation and Management of Genetic Variants, JACC: Basic to Translational Science, Volume 5, Issue 10, 2020, Pages 1029-1042, ISSN 2452-302X, https://doi.org/10.1016/j.jacbts.2020.05.013 | |
dc.relation | Al-Khatib S, Stevenson W, Ackerman M, et al. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. J Am Coll Cardiol. 2018 oct, 72 (14) e91–e220. https://doi.org/10.1016/j.jacc.2017.10.054 | |
dc.relation | American College of Cardiology Foundation Appropriate Use Criteria Task Force; American Society of Echocardiography; American Heart Association; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Critical Care Medicine; Society of Cardiovascular Computed Tomography; Society for Cardiovascular Magnetic Resonance; American College of Chest Physicians, Douglas PS, Garcia MJ, Haines DE, Lai WW, Manning WJ, Patel AR, Picard MH, Polk DM, Ragosta M, Parker Ward R, Weiner RB. ACCF/ASE/AHA/ASNC/HFSA/HRS/SCAI/SCCM/SCCT/SCMR 2011 Appropriate Use Criteria for Echocardiography. A Report of the American College of Cardiology Foundation Appropriate Use Criteria Task Force, American Society of Echocardiography, American Heart Association, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, Society of Critical Care Medicine, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance American College of Chest Physicians. J Am Soc Echocardiogr. 2011 Mar;24(3):229-67. doi: 10.1016/j.echo.2010.12.008. PMID: 21338862. | |
dc.relation | Ameziane N, Sie D, Dentro S, Ariyurek Y, Kerkhoven L, Joenje H, et al. Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing. Anemia. 2012;2012:132856 | |
dc.relation | Andreasen Charlotte, Lena Refsgaard, Jonas B. Nielsen, Ahmad Sajadieh, Bo G. Winkel, Jacob Tfelt-Hansen, Stig Haunsø, Anders G. Holst, Jesper H. Svendsen and Morten S. Olesen. 2013. Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Canadian Journal of Cardiology 29: 1104-1109 | |
dc.relation | Andrews S. (2010). FastQC: a quality control tool for high throughput sequence data. Available online at: http://www.bioinformatics.babraham.ac.uk/projects/fastqc | |
dc.relation | Angsutararux P, Zhu W, Voelker TL, Silva JR. Molecular Pathology of Sodium Channel Beta-Subunit Variants. Front Pharmacol. 2021 Nov 19;12:761275. doi: 10.3389/fphar.2021.761275 | |
dc.relation | Ankala, A., et al., A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol, 2015. 77(2): p. 206-14 | |
dc.relation | Arif, M., Nabavizadeh, P., Song, T. et al. Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3Δ25bp variant. Biophys Rev 12, 1065–1084 (2020). https://doi.org/10.1007/s12551-020-00725-1 | |
dc.relation | Asatryan B, Medeiros-Domingo A. Emerging Implications of Genetic Testing in Inherited Primary Arrhythmia Syndromes. Cardiol Rev. 2019;27:23–33 | |
dc.relation | Awad MM, Dalal D, Cho E, et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. American Journal of Human Genetics. 2006 Jul;79(1):136-142. DOI: 10.1086/504393. PMID: 16773573; PMCID: PMC1474134 | |
dc.relation | Azevedo, P.S.; Polegato, B.F.; Minicucci, M.F.; Paiva, S.A.; Zornoff, L.A. Cardiac Remodeling: Concepts, Clinical Impact, Pathophysiological Mechanisms and Pharmacologic Treatment. Arq. Bras Cardiol. 2016, 106, 62–69 | |
dc.relation | B.M. Kroncke, J. Mendenhall, D.K. Smith, C.R. Sanders, J.A. Capra, A.L. George, J. D. Blume, J. Meiler, D.M. Roden, Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1, Comput. Struct. Biotechnol. J. 17 (2019) 206–214, https://doi.org/10.1016/j.csbj.2019.01.008. PMID: 30828412; PMCID: PMC6383132 | |
dc.relation | B.M. Kroncke, T. Yang, P. Kannankeril, M.B. Shoemaker, D.M. Roden, Exploiting ion channel structure to assess rare variant pathogenicity, Heart Rhythm 15 (6) (2018) 890–894, https://doi.org/10.1016/j.hrthm.2018.01.021. | |
dc.relation | Bagnall R.D., K J.D., Duflou J., Semsarian C. Exome Analysis–Based Molecular Autopsy in Cases of Sudden Unexplained Death in the Young. Heart Rhythm. 2014;11:655–662. doi: 10.1016/j.hrthm.2014.01.017 | |
dc.relation | Bagnall, Richard D. and Weintraub, Robert G. and Ingles, Jodie and Duflou, Johan and Yeates, Laura and Lam, Lien and Davis, Andrew M. and Thompson, Tina and Connell, Vanessa and Wallace, Jennie and Naylor, Charles and Crawford, Jackie and Love, Donald R. and Hallam, Lavinia and White, Jodi and Lawrence, Christopher and Lynch, Matthew and Morgan, Natalie and James, Paul and du Sart, Desir\'{e}e and Puranik, Rajesh and Langlois, Neil and Vohra, Jitendra and Winship, Ingrid and Atherton, John and McGaughran, Julie and Skinner, Jonathan R. and Semsarian, Christopher,A Prospective Study of Sudden Cardiac Death among Children and Young Adults,New England Journal of Medicine,vol. 374: 25, pag. 2441-2452, 2016, doi10.1056/NEJMoa1510687 | |
dc.relation | Bahrudin U, Morisaki H, Morisaki T, Ninomiya H, Higaki K, Nanba E, Igawa O, Takashima S, Mizuta E, Miake J, Yamamoto Y, Shirayoshi Y, Kitakaze M, Carrier L, Hisatome I. Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy. J Mol Biol. 2008 Dec 26;384(4):896-907. doi: 10.1016/j.jmb.2008.09.070. Epub 2008 Oct 7. PMID: 18929575 | |
dc.relation | Banerjee PS, Lagerlöf O, Hart GW. Roles of O-GlcNAc in chronic diseases of aging. Molecular Aspects of Medicine. 2016; 51:1–15 | |
dc.relation | Basso C, Burke M, Fornes P, et al. 2008. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 452: 11-8 | |
dc.relation | Basso, C., Aguilera, B., Banner, J. et al. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch 471, 691–705 (2017). https://doi.org/10.1007/s00428-017-2221-0 | |
dc.relation | Behere SP, Weindling SN. Inherited arrhythmias: The cardiac channelopathies. Ann Pediatr Cardiol. 2015 Sep-Dec;8(3):210-20. doi: 10.4103/0974-2069.164695. PMID: 26556967; PMCID: PMC4608198 | |
dc.relation | Bengtsson L, Otto H. LUMA interacts with emerin and influences its distribution at the inner nuclear membrane. J Cell Sci. 2008; 121: 536- 548 | |
dc.relation | Bick AG, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012;91(3):513–519. doi: 10.1016/j.ajhg.2012.07.017 | |
dc.relation | Boccuto, L. et al. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet (2013) | |
dc.relation | Bock, D. G., Kantar, M. B., Caseys, C., Matthey-Doret, R., & Rieseberg, L. H. (2018). Evolution of invasiveness by genetic accommodation. Nature Ecology and Evolution, 2(6), 991–999. https://doi.org/10.1038/s41559-018-0553-z | |
dc.relation | Bohnen MS, Peng G, Robey SH, Terrenoire C, Iyer V, Sampson KJ, Kass RS. Molecular Pathophysiology of Congenital Long QT Syndrome. Physiol Rev. 2017 Jan;97(1):89-134. Review. Citation on PubMed | |
dc.relation | Bonaventura J, Polakova E, Vejtasova V, Veselka J. Genetic Testing in Patients with Hypertrophic Cardiomyopathy. Int J Mol Sci. 2021 Sep 27;22(19):10401. doi: 10.3390/ijms221910401. PMID: 34638741; PMCID: PMC8509044 | |
dc.relation | Bradbury PJ, Zhang Z, Kroon DE, Casstevens TM, Ramdoss Y, Buckler ES. (2007) TASSEL: Software for association mapping of complex traits in diverse samples. Bioinformatics 23:2633-2635 | |
dc.relation | Brodehl A, Meshkov A, Myasnikov R, Kiseleva A, Kulikova O, Klauke B, Sotnikova E, Stanasiuk C, Divashuk M, Pohl GM, Kudryavtseva M, Klingel K, Gerull B, Zharikova A, Gummert J, Koretskiy S, Schubert S, Mershina E, Gärtner A, Pilus P, Laser KT, Sinitsyn V, Boytsov S, Drapkina O, Milting H. Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset. Int J Mol Sci. 2021 Apr 6;22(7):3786. doi: 10.3390/ijms22073786 | |
dc.relation | Brugada P, Brugada J., 1992. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 20:1391-6 | |
dc.relation | Brugada, R., et al., 2003. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 109, r151–r156 | |
dc.relation | Burkett EL, Hershberger RE. 2005. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 45:969- 81 | |
dc.relation | C. Basso, D. Corrado, G. Thiene Cardiovascular causes of sudden death in young individuals including athletes Cardiology in review, 7 (1999), pp. 127-135 | |
dc.relation | C.L. Anderson, B.P. Delisle, B.D. Anson, J.A. Kilby, M.L. Will, D.J. Tester, Q. Gong, Z. Zhou, M.J. Ackerman, C.T. January Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism Circulation, 113 (3) (2006), pp. 365-373, 10.1161/CIRCULATIONAHA.105.570200 | |
dc.relation | Cai Z., Wang Z., Yuan R., Cui M., Lao Y., Wang Y., et al. (2021). Redox-sensitive Enzyme SENP3 Mediates Vascular Remodeling via De-SUMOylation of β-catenin and Regulation of its Stability. EBioMedicine 67, 103386. 10.1016/j.ebiom.2021.103386 | |
dc.relation | Campuzano O, Sanchez-Molero O, Mademont-Soler I, Riuró H, Allegue C, Coll M, Pérez-Serra A, Mates J, Picó F, Iglesias A, Brugada R. Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death. Int J Mol Sci. 2015 Oct 27;16(10):25773-87. doi: 10.3390/ijms161025773. PMID: 26516846; PMCID: PMC4632826 | |
dc.relation | Campuzano O, Sarquella-Brugada G, Brugada R, Brugada J. Genetics of channelopathies associated with sudden cardiac death. Glob Cardiol Sci Pract. 2015 Oct 13;2015(3):39. doi: 10.5339/gcsp.2015.39. PMID: 26566530; PMCID: PMC4625210 | |
dc.relation | Campuzano O., Beltramo P., Fernandez A., Iglesias A., García L., Allegue C., Sarquella-Brugada G., Coll M., Perez-Serra A., Mademont-Soler I., et al. Molecular Autopsy in a Cohort of Infants Died Suddenly at Rest. Forensic Sci. Int. Genet. 2018;37:54–63. doi: 10.1016/j.fsigen.2018.07.023 | |
dc.relation | Campuzano, O., Allegue, C., Fernandez, A. et al. Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies. Sci Rep 5, 7953 (2015). https://doi.org/10.1038/srep07953 | |
dc.relation | Campuzano, O.; Allegue, C.; Partemi, S.; Iglesias, A.; Olivo, A.; Brugada, R. Autopsia negativa y muerte súbita cardiaca. En t. J. Pierna. Medicina. Rev. 2014, 128, 599–606. | |
dc.relation | Campuzano, U.; Sanchez-Molero, U.; Alegue, C.; Coll, M.; Mademont-Soler, I.; Selga, E.; Ferrer-Costa, C.; Mates, J.; Iglesias, A.; Sarquella-Brugada, G.; et al. Post-mortem genético analysis en juveniles casas del surden cardiaco death. Forensic. Sci. Int. 2014, 245, 30–37 | |
dc.relation | Capriotti E, Fariselli P, Casadio R. (2005). I-Mutant 2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res. 33: W306–W310 | |
dc.relation | Castets, P.; Lescure, A.; Guicheney, P.; Allamand, V. Selenoprotein N in Skeletal Muscle: From Diseases to Function. J. Mol. Med. 2012, 90, 1095–1107 | |
dc.relation | Castiglione V, Modena M, Aimo A, Chiti E, Botto N, Vittorini S, Guidi B, Vergaro G, Barison A, Rossi A, Passino C, Giannoni A, Di Paolo M, Emdin M. Molecular Autopsy of Sudden Cardiac Death in the Genomics Era. Diagnostics (Basel). 2021 Jul 30;11(8):1378. doi: 10.3390/diagnostics11081378. PMID: 34441312; PMCID: PMC8394514 | |
dc.relation | Chauveau C, Rowell J, Ferreiro A. A rising titan: TTN review and mutation update. Hum Mutat. 2014 Sep;35(9):1046-59. doi: 10.1002/humu.22611 | |
dc.relation | Chen Y., Xu T., Li M., Li C., Ma Y., Chen G., et al. (2021). Inhibition of SENP2-Mediated Akt deSUMOylation Promotes Cardiac Regeneration via Activating Akt Pathway. Clin. Sci. (Lond) 135, 811–828. 10.1042/CS20201408 | |
dc.relation | Cheng J, Randall A, Baldi P. (2006). Prediction of protein stability changes for single-site mutations using support vector machines. Proteins 62:1125–32 | |
dc.relation | Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. doi: 10.1097/01.crd.0000123842.42287.cf. PMID: 15191637 | |
dc.relation | Cho, S.J.; Roman, G.; Yeboah, F.; Konishi, Y. The road to advanced glycation end products: A mechanistic perspective. Curr. Med. Chem. 2007, 14, 1653–1671 | |
dc.relation | Chockalingam, P., Crotti, L., Girardengo, G., Johnson, J. N., Harris, K. M., van der Heijden, J. F., . . . Wilde, A. A. M. (2012). Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: Higher recurrence of events under metoprolo. doi:10.1016/j.jacc.2012.07.046 | |
dc.relation | Chugh SS, Reinier K, Teodorescu C, et al. (2008). Epidemiology of sudden cardiac death: Clinical and research implications. Prog Cardiovasc Dis. Vol. 51: 213-28 | |
dc.relation | Chun S, Fay JC. (2009). Identification of deleterious mutations within three human genomes. Genome Res. 19(9):1553-1561. doi:10.1101/gr.092619.109 | |
dc.relation | Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. 2012. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: Variantes in the genome of Drosophila melanogaster strain w 1118; iso-2; iso-3. Landes Bioscience. vol 2: 1–13. | |
dc.relation | CLlNVAR Database, https://www.ncbi.nlm.nih.gov/clinvar/variation/36329/; Last evaluated: Aug 18, 2011 [accessed 18.01.17]. | |
dc.relation | Cooke JP, Tsao PS. Arginine: a new therapy for atherosclerosis? Circulation.1997; 95:311–312 | |
dc.relation | Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA. (2010). Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods. Apr;7(4):250-1. doi: 10.1038/nmeth0410-250. PMID: 20354513; PMCID: PMC3145250. | |
dc.relation | Corrado D, Wichter T, Link MS, Hauer RN, Marchlinski FE, Anastasakis A, Bauce B, Basso C, Brunckhorst C, Tsatsopoulou A, Tandri H, Paul M, Schmied C, Pelliccia A, Duru F, Protonotarios N, Estes NM 3rd, McKenna WJ, Thiene G, Marcus FI, Calkins H. Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement. Circulation. 2015 Aug 4;132(5):441-53. doi: 10.1161/CIRCULATIONAHA.115.017944. Epub 2015 Jul 27. PMID: 26216213; PMCID: PMC4521905 | |
dc.relation | Cronk, L. B., Ye, B., Kaku, T., Tester, D. J., Vatta, M., Makielski, J. C., Ackerman, M. J. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm 4: 161-166, 2007 | |
dc.relation | Czepluch FS, Wollnik B, Hasenfuß G. Genetic determinants of heart failure: facts and numbers. ESC Heart Fail. 2018 Jun;5(3):211-217. doi: 10.1002/ehf2.12267. Epub 2018 Feb 19. PMID: 29457878; PMCID: PMC5933969 | |
dc.relation | D. Garrod, M. Chidgey, Desmosome structure, composition and function, Biochim. Biophys. Acta - Biomembr. 1778 (2008) 572–587. doi:10.1016/j.bbamem.2007.07.014 | |
dc.relation | D. Manase et al., High throughput exome coverage of clinically relevant cardiac genes. BMC Med Genomics 7, 67 (2014). | |
dc.relation | D.S. Herman, L. Lam, M.R. Taylor, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med., 366 (2012), pp. 619-628 http://dx.doi.org/10.1056/NEJMoa1110186 | |
dc.relation | Daumy, X., Amarouch, M. Y., Lindenbaum, P., Bonnaud, S., Charpentier, E., Bianchi, B., et al. (2016). Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type i. Int. J. Cardiol. 207, 349–358. doi: 10.1016/j.ijcard.2016.01.052 | |
dc.relation | de Boer, R.A., Heymans, S., Backs, J., Carrier, L., Coats, A.J.S., Dimmeler, S., Eschenhagen, T., Filippatos, G., Gepstein, L., Hulot, J.-S., Knöll, R., Kupatt, C., Linke, W.A., Seidman, C.E., Tocchetti, C.G., van der Velden, J., Walsh, R., Seferovic, P.M. and Thum, T. (2022), Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC). Eur J Heart Fail, 24: 406-420. https://doi.org/10.1002/ejhf.2414 | |
dc.relation | Dechat, T., Korbei, B., Vaughan, O. A., Vlcek, S., Hutchison, C. J. and Foisner, R. (2000). Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins. J. Cell Sci. 113, 3473-3484 | |
dc.relation | Dehghani-Samani A, Madreseh-Ghahfarokhi S, Dehghani-Samani A. Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias. Acta Cardiol Sin. 2019 Mar;35(2):99-110. doi: 10.6515/ACS.201903_35(2).20181028A. PMID: 30930557; PMCID: PMC6434417 | |
dc.relation | Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, Liu X. (2015) Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 15;24(8):2125-37. doi: 10.1093/hmg/ddu733. Epub 2014 Dec 30. PMID: 25552646; PMCID: PMC4375422 | |
dc.relation | Dong X, Fan P, Tian T, Yang Y, Xiao Y, Yang K, Liu Y, Zhou X. Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. Clin Chim Acta. 2017 Feb;465:40-44. doi: 10.1016/j.cca.2016.12.013. Epub 2016 Dec 15 | |
dc.relation | Dong Y, Du R, Fan LL, Jin JY, Huang H, Chen YQ, Bi DD, Xiang R. Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block. Biomed Res Int. 2021 Apr 17;2021:9247541. doi: 10.1155/2021/9247541. PMID: 33959666; PMCID: PMC8075657 | |
dc.relation | Dozio, E.; Di Gaetano, N.; Findeisen, P.; Corsi Romanelli, M.M. Glycated albumin: From biochemistry and laboratory medicine to clinical practice. Endocrine 2017, 55, 682–690 | |
dc.relation | Dubois-Deruy, E.; Belliard, A.; Mulder, P.; Bouvet, M.; Smet-Nocca, C.; Janel, S.; Lafont, F.; Beseme, O.; Amouyel, P.; Richard, V.; et al. Interplay between troponin T phosphorylation and O-N-acetylglucosaminylation in ischaemic heart failure. Cardiovasc. Res. 2015, 107, 56–65 | |
dc.relation | Duncan G, Firth K, George V, Hoang MD, Staniforth A, Smith G, Denning C. Drug-Mediated Shortening of Action Potentials in LQTS2 Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Stem Cells Dev. 2017 Dec 1;26(23):1695-1705. doi: 10.1089/MSC.2017.0172. Epub 2017 Oct 9. PMID: 28992755; PMCID: PMC5706629 | |
dc.relation | Durbin RM, Altshuler DL, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061-73. https://doi.org/10.1038/nature09534 | |
dc.relation | Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. A systematic approach to assessing the clinical significance of genetic variants.Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257 | |
dc.relation | E.J. Ciampa, R.C. Welch, C.G. Vanoye, A.L. George, KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1, J. Biol. Chem. 286 (2011) 4141–4149. doi:10.1074/jbc.M110.158865 | |
dc.relation | Ellingford, J.M., Ahn, J.W., Bagnall, R.D. et al. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med 14, 73 (2022). https://doi.org/10.1186/s13073-022-01073-3 | |
dc.relation | Ellison SR. Sudden cardiac death in adolescents. Prim Care. 2015 Mar;42(1):57-76. doi: 10.1016/j.pop.2014.09.012. PMID: 25634705 | |
dc.relation | Eloisa Arbustini, Elijah R Behr, Lucie Carrier, Cornelia van Duijn, Paul Evans, Valentina Favalli, Pim van der Harst, Kristina Hermann Haugaa, Guillaume Jondeau, Stefan Kääb, Juan Pablo Kaski, Maryam Kavousi, Bart Loeys, Antonis Pantazis, Yigal Pinto, Heribert Schunkert, Alessandro Di Toro, Thomas Thum, Mario Urtis, Johannes Waltenberger, Perry Elliott, Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics, European Heart Journal, Volume 43, Issue 20, 21 May 2022, Pages 1901–1916, https://doi.org/10.1093/eurheartj/ehab895 | |
dc.relation | Erickson, J.R.; Pereira, L.; Wang, L.; Han, G.; Ferguson, A.; Dao, K.; Copeland, R.J.; Despa, F.; Hart, G.W.; Ripplinger, C.M.; et al. Diabetic hyperglycaemia activates CaMKII and arrhythmias by O-linked glycosylation. Nature 2013, 502, 372–376 | |
dc.relation | European Heart Rhythm Association; Heart Rhythm Society; Douglas P Zipes, et al., (2006). ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). J Am Coll Cardiol 5:48(5):e247-346. DOI: 10.1016/j.jacc.2006.07.010 | |
dc.relation | F. Dudbridge, Power and predictive accuracy of polygenic risk scores, PLoS Genet. 9 (2013) e1003348. doi:10.1371/journal.pgen.1003348 | |
dc.relation | Fallavollita JApesado BMLuisi AJJMichalek SMbaldwa sMashtare TLAnuncio de HutsonDekemp RAHaka MSSajjad MCimato TRCurtis ABCaín YOcanty jm (2014) La denervación simpática miocárdica regional predice el riesgo de paro cardíaco súbito en la miocardiopatía isquémica Revista del Colegio Americano de Cardiología 63 :141–149 | |
dc.relation | FastQC. Web: http://www.bioinformatics.babraham.ac.uk/projects/fastqc/ | |
dc.relation | Federici G, Soddu S. Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers. J Exp Clin Cancer Res. 2020 Mar 4;39(1):46. doi: 10.1186/s13046-020-01554-6. PMID: 32127026; PMCID: PMC7055088. | |
dc.relation | Fernández-Falgueras A, Sarquella-Brugada G, Brugada J, Brugada R, Campuzano O. Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances. Biology (Basel). 2017 Jan 29;6(1):7. doi: 10.3390/biology6010007. PMID: 28146053; PMCID: PMC5372000 | |
dc.relation | Finsterer J, Stöllberger C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. 2017 Apr;14(4):224-237. doi: 10.1038/nrcardio.2016.207 | |
dc.relation | Fonseca DJNdO, Silva MJLVd. Canalopatias cardíacas: o papel das mutac¸ões nos canais de sódio. Rev Port Cardiol. 2018;37:179-199 | |
dc.relation | Frank-Hansen R, Larsen LA, Andersen P, Jespersgaard C, Christiansen M. Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome. Clin Chim Acta. 2005 Jan;351(1-2):95-100. doi: 10.1016/j.cccn.2004.08.017. PMID: 15563876 | |
dc.relation | Fricovsky, E.S.; Suarez, J.; Ihm, S.H.; Scott, B.T.; Suarez-Ramirez, J.A.; Banerjee, I.; Torres-Gonzalez, M.; Wang, H.; Ellrott, I.; Maya-Ramos, L.; et al. Excess protein O-GlcNAcylation and the progression of diabetic cardiomyopathy. Am. J. Physiol. Regul. Integr. Comp. Physiol. 2012, 303, R689–R699 | |
dc.relation | Fukuyama M, Wang Q, Kato K, Ohno S, Ding WG, Toyoda F, Itoh H, Kimura H, Makiyama T, Ito M, Matsuura H, Horie M. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace. 2014 Dec;16(12):1828-37. doi: 10.1093/europace/euu063 | |
dc.relation | G. McConnachie, L.K. Langeberg, J.D. Scott, AKAP signaling complexes: getting to the heart of the matter, Trends Mol. Med. 12 (2006) 317–323. doi:10.1016/j.molmed.2006.05.008 | |
dc.relation | Gaertner A., Klauke B., Stork I., Niehaus K., Niemann G., Gummert J., Milting H. Análisis funcionales in vitro de las variaciones de desmogleína-2-missense asociadas a la miocardiopatía arritmogénica del ventrículo derecho. Más uno. 2012; 7:e47097. doi: 10.1371/journal.pone.0047097 | |
dc.relation | Garber M, Guttman M, Clamp M, Zody MC, Friedman N, Xie X. (2009). Identifying novel constrained elements by exploiting biased substitution patterns. Bioinformatics. Jun 15;25(12):i54-62. doi: 10.1093/bioinformatics/btp190. PMID: 19478016; PMCID: PMC2687944 | |
dc.relation | García-Castro M, Coto E, Reguero JR, Berrazueta JR, Alvarez V, Alonso B, Sainz R, Martín M, Morís C. Espectro mutacional de los genes sarcoméricos MYH7, MYBPC3, TNNT2, TNNI3 y TPM1 en pacientes con miocardiopatía hipertrófica [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Rev Esp Cardiol. 2009 Jan;62(1):48-56. Spanish. PMID: 19150014 | |
dc.relation | Gardner RJM, Crozier IG, Binfield AL, Love DR, Lehnert K, Gibson K, Lintott CJ, Snell RG, Jacobsen JC, Jones PP, Waddell-Smith KE, Kennedy MA, Skinner JR. Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. Mol Genet Genomic Med. 2019 Jan;7(1):e00476. doi: 10.1002/mgg3.476 | |
dc.relation | Garrison, E. & Marth, G. Detección de variantes basada en haplotipos a partir de secuenciación de lectura corta. arXiv: 1207.3907 (2012). (freebayes) | |
dc.relation | Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8. Review. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692 | |
dc.relation | Geisterfer-Lowrance AA.T, Kass S, Tanigawa G, Vospert HP, McKenna W, Seidman JG, et al. 1999. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain missence mutation. Cell 62:999-1006 | |
dc.relation | Gelinas, R.; Mailleux, F.; Dontaine, J.; Bultot, L.; Demeulder, B.; Ginion, A.; Daskalopoulos, E.P.; Esfahani, H.; Dubois-Deruy, E.; Lauzier, B.; et al. AMPK activation counteracts cardiac hypertrophy by reducing O-GlcNAcylation. Nat. Commun. 2018, 9, 374 | |
dc.relation | Gema Mondéjar-Parreño, James W.S. Jahng, Nadjet Belbachir, Blake C. Wu, Xiaolan Zhang, Marco V. Perez, Nitish Badhwar, Joseph C. Wu, Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome, Stem Cell Research, Volume 54, 2021, 102402, ISSN 1873-5061, https://doi.org/10.1016/j.scr.2021.102402. | |
dc.relation | Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, et al. Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Br J Haematol. 2013;162(4):530-6 | |
dc.relation | Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. Hum Mutat. 2012 Jun;33(6):989-97. doi: 10.1002/humu.22058. Epub 2012 Mar 27. PMID: 22457051; PMCID: PMC3518919 | |
dc.relation | Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV, Albertson RM, Antzelevitch C, Schwartz PJ, Ackerman MJ. Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm. 2011 Jul;8(7):1024-32. doi: 10.1016/j.hrthm.2011.02.021. Epub 2011 Feb 22. PMID: 21349352; PMCID: PMC3150551 | |
dc.relation | Gollob MH, Redpath CJ, Roberts JD. 2011. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. Vol.57: 802–812 | |
dc.relation | Graph theory-based simulation tools for protein structure networks, Simulation Modelling Practice and Theory, Volume 121, 2022, 102640, ISSN 1569-190X, https://doi.org/10.1016/j.simpat.2022.102640 | |
dc.relation | Gruenbaum, Y.; Foisner, R. Lamins: Nuclear Intermediate Filament Proteins with Fundamental Functions in Nuclear Mechanics and Genome Regulation. Annu. Rev. Biochem. 2015, 84, 131–164 | |
dc.relation | H.-J. Choi, S. Park-Snyder, L.T. Pascoe, K.J. Green, W.I. Weis, Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure, Nat. Struct. Biol. 9 (2002) 612–620. doi:10.1038/nsb818 | |
dc.relation | Hancox, J.C., James, A.F., Walsh, M.A. et al. Triadin mutations - a cause of ventricular arrhythmias in children and young adults. J Congenit Heart Dis 1, 9 (2017). https://doi.org/10.1186/s40949-017-0011-9 | |
dc.relation | Harris AM, DeGiorgio M. An Unbiased Estimator of Gene Diversity with Improved Variance for Samples Containing Related and Inbred Individuals of any Ploidy. G3 (Bethesda). 2017 Feb 9;7(2):671-691. doi: 10.1534/g3.116.037168. PMID: 28040781; PMCID: PMC5295611 | |
dc.relation | Hastings R, et al. Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction. Circ Cardiovasc Genet. 2016;9(5):426–435. doi: 10.1161/CIRCGENETICS.116.001431. | |
dc.relation | Hata Y., Kinoshita K., Mizumaki K., Yamaguchi Y., Hirono K., Ichida F., Takasaki A., Mori H., Nishida N. Postmortem Genetic Analysis of Sudden Unexplained Death Syndrome under 50 Years of Age: A next-Generation Sequencing Study. Heart Rhythm. 2016;13:1544–1551. doi: 10.1016/j.hrthm.2016.03.038 | |
dc.relation | Hayashi, T., Arimura, T., Ueda, K., Shibata, H., Hohda, S., Takahashi, M., Hori, H., Koga, Y., Oka, N., Imaizumi, T., Yasunami, M., Kimura, A. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 313: 178-184, 2004 | |
dc.relation | Helga Thorvaldsdóttir, James T. Robinson, Jill P. Mesirov, Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration, Briefings in Bioinformatics, Volume 14, Issue 2, March 2013, Pages 178–192, https://doi.org/10.1093/bib/bbs017 | |
dc.relation | Hellenthal N., Gaertner-Rommel A., Klauke B., Paluszkiewicz L., Stuhr M., Kerner T., Farr M., Püschel K., Milting H. Molecular Autopsy of Sudden Unexplained Deaths Reveals Genetic Predispositions for Cardiac Diseases among Young Forensic Cases. EP Eur. 2017;19:1881–1890. doi: 10.1093/europace/euw247 | |
dc.relation | Heng L. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM, 2013: arXiv: Genomics | |
dc.relation | Herman DS, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619–628. doi: 10.1056/NEJMoa1110186 | |
dc.relation | Herring NKalla, MPaterson DJ (2019) The autonomic nervous system and cardiac arrhythmias: current concepts and emerging therapies Nature Reviews. Cardiology 16:707–726 | |
dc.relation | Heusch G. (2020). Myocardial Ischaemia-Reperfusion Injury and Cardioprotection in Perspective. Nat. Rev. Cardiol. 17, 773–789. 10.1038/s41569-020-0403-y | |
dc.relation | Hu Y, Li Q, Shen Y, Fujita T, Zhu X, Inoue R. Theoretical Investigation of the Mechanism by which A Gain-of-Function Mutation of the TRPM4 Channel Causes Conduction Block. Int J Mol Sci. 2021 Aug 7;22(16):8513. doi: 10.3390/ijms22168513. PMID: 34445219; PMCID: PMC8395173 | |
dc.relation | Hu, Y.; Belke, D.; Suarez, J.; Swanson, E.; Clark, R.; Hoshijima, M.; Dillmann, W.H. Adenovirus-mediated overexpression of O-GlcNAcase improves contractile function in the diabetic heart. Circ. Res. 2005, 96, 1006–1013 | |
dc.relation | Hwang, S., Kim, E., Lee, I. et al. Systematic comparison of variant calling pipelines using gold standard personal exome variants. Sci Rep 5, 17875 (2015). https://doi.org/10.1038/srep17875 | |
dc.relation | Ichikawa M, Aiba T, Ohno S, Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M. Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes. Circ J. 2016 Nov 25;80(12):2435-2442. doi: 10.1253/circj.CJ-16-0486. Epub 2016 Oct 25. PMID: 27784853 | |
dc.relation | Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Heterozygosity mapping for human dominant trait variants. Hum Mutat. 2019 Jul;40(7):996-1004. doi: 10.1002/humu.23765. Epub 2019 Apr 24. PMID: 31018026; PMCID: PMC6617796 | |
dc.relation | Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, et al. Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019;12:e002460. | |
dc.relation | J. Filiano, H. Kinney, A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model., Biol. Neonate. 65 (1994) 194–197. doi:10.1159/000244052 | |
dc.relation | Jain S, Bader GD. An improved method for scoring protein-protein interactions using semantic similarity within the gene ontology. BMC Bioinformatics 2010;11:562 | |
dc.relation | James T. Robinson, Helga Thorvaldsdóttir, Wendy Winckler, Mitchell Guttman, Eric S. Lander, Gad Getz, Jill P. Mesirov. Integrative Genomics Viewer. Nature Biotechnology 29, 24–26 (2011). | |
dc.relation | Jesse D. Riordan, and Joseph H. Nadeau. From Peas to Disease:Modifier Genes, Network Resilience, and the Genetics of Health.The American Journal of Human Genetics 101, 177–191, August 3, 2017 | |
dc.relation | Ji Sun, Roderick MacKinnon, Structural Basis of Human KCNQ1 Modulation and Gating, Cell, Volume 180, Issue 2, 2020, Pages 340-347.e9, ISSN 0092-8674, https://doi.org/10.1016/j.cell.2019.12.003 | |
dc.relation | Jianding Cheng, MD, Jonathan C. Makielski, Ping Yuan, MD, Nianqing Shi, Feng Zhou, Bin Ye, Bi-Hua Tan, and Stacie Kroboth. 2011. Sudden Unexplained Nocturnal Death Syndrome in Southern China. Am J Forensic Med Pathol 32: 359-363 | |
dc.relation | Jonathan R. Skinner, Annika Winbo, Dominic Abrams, Jitendra Vohra, Arthur A. Wilde, Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects, Heart, Lung and Circulation, Volume 28, Issue 1, 2019, Pages 22-30, ISSN 1443-9506, https://doi.org/10.1016/j.hlc.2018.09.007 | |
dc.relation | Jonathan R. Skinner, Jackie Crawford, Warren Smith, Andrew Aitken, David Heaven, Cary-Anne Evans, Ian Hayes, Katherine R. Neas, Simon Stables, Timothy Koelmeyer, Lloyd Denmark, Jane Vuletic, Fraser Maxwell, Kate White, Tao Yang, Dan M. Roden, Trond P. Leren, Andrew Shelling, Donald R. Love, 2011. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm, vol 8(3): 412-419 | |
dc.relation | Jose´ P. Llongueras, Samir Das, MSc, Jolien De Waele, Lucio Capulzini, Antonio Sorgente, Filip Van Petegem and Frank Bosmans. Biophysical Investigation of Sodium Channel Interaction with b-Subunit Variants Associated with Arrhythmias. BIOELECTRICITY. Volume 2, Number 3, 2020. DOI: 10.1089/bioe.2020.0030 | |
dc.relation | Joseph Alape Ariza, Arbey Hernán Medina Rocha, Rodrigo Cabrera Pérez, Clara Isabel Bermudez-Santana. Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy,Forensic Science International: Reports. Volume 6, 2022, 100300, ISSN 2665-9107, https://doi.org/10.1016/j.fsir.2022.100300 | |
dc.relation | Julia C. Isbister, Natalie Nowak, Laura Yeates, Emma S. Singer, Raymond W. Sy, Jodie Ingles, Hariharan Raju, Richard D. Bagnall, Christopher Semsarian, Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families, Journal of the American College of Cardiology, Volume 80, Issue 22, 2022, Pages 2057-2068, ISSN 0735-1097, https://doi.org/10.1016/j.jacc.2022.09.029 | |
dc.relation | K. Hong, P. Bjerregaard, I. Gussak, R. Brugada, Short QT syndrome and atrial fibrillation caused by mutation in KCNH2, J. Cardiovasc. Electrophysiol. 16 (2005) 394–396, https://doi.org/10.1046/j.1540-8167.2005.40621.x | |
dc.relation | K.A. Dufendach, K. Timothy, M.J. Ackerman, B. Blevins, A. Pflaumer, S. Etheridge, J. Perry, N.A. Blom, J. Temple, D. Chowdhury, J.R. Skinner, C. Johnsrude, A. Bratincsak, J.M. Bos, M. Shah, Clinical outcomes and modes of death in Timothy syndrome, JACC Clin. Electrophysiol. 4 (2018) 459–466. doi:10.1016/j.jacep.2017.08.007 | |
dc.relation | Kalogeris, T., Baines, C. P., Krenz, M., and Korthuis, R. J. (2012). Cell biology of ischemia/reperfusion injury. Int. Rev. Cell Mol. Biol. 298, 229–317. doi: 10.1016/B978-0-12-394309-5.00006-7 | |
dc.relation | Kaltman JR, Thompson PD, Lantos J, et al., 2011. Screening for sudden cardiac death in the young: Report from a national heart, lung, and blood institute working group. Circulation. 123:1911-8 | |
dc.relation | Kamga MVK, Reppel M, Hescheler J, Nguemo F. Modeling genetic cardiac channelopathies using induced pluripotent stem cells - Status quo from an electrophysiological perspective. Biochem Pharmacol. 2021 Oct;192:114746. doi: 10.1016/j.bcp.2021.114746 | |
dc.relation | Kanan Y., Al-Ubaidi M.R. Tyrosine-O-sulfation: An overview. JSM Biotechnol. Bioeng. 2013;1:1003 | |
dc.relation | Kanan Y., Siefert J.C., Kinter M., Al-Ubaidi M.R. Complement factor H, vitronectin, and opticin are tyrosine-sulfated proteins of the retinal pigment epithelium. PLoS One. 2014;9:e105409. doi: 10.1371/journal.pone.0105409 | |
dc.relation | Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23. PMID: 19716085; PMCID: PMC3049907 | |
dc.relation | Karlijn Bouman, Madelief Gubbels, Frederik M.A. van den Heuvel, Jan T. Groothuis, Corrie E. Erasmus, Robin Nijveldt, Floris E.A. Udink ten Cate, Nicol C. Voermans, Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy, Neuromuscular Disorders, Volume 32, Issue 8, 2022, Pages 635-642, ISSN 0960-8966, https://doi.org/10.1016/j.nmd.2022.06.004 | |
dc.relation | Kaufman, E. S. (2009). Mechanisms and clinical management of inherited channelopathies: Long QT syndrome, brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. Heart Rhythm, 6(8), S51-S55 | |
dc.relation | Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome Res. 2002 Jun;12(6):996-1006. doi: 10.1101/gr.229102. PMID: 12045153; PMCID: PMC186604 | |
dc.relation | Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar;5(3):158-68. doi: 10.1038/ncpcardio1110 | |
dc.relation | Kevin Ng, Erron W. Titus, Krystien V. Lieve, Thomas M. Roston, Andrea Mazzanti, Frederick H. et al. 2020. An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of <i>CASQ2</i>-Catecholaminergic Polymorphic Ventricular Tachycardia. Journal Article 2020 Circulation pg: 932-947. V142. DOI:10.1161/CIRCULATIONAHA.120.045723 | |
dc.relation | Kho C., Lee A., Jeong D., Oh J. G., Chaanine A. H., Kizana E., et al. (2011). SUMO1-dependent Modulation of SERCA2a in Heart Failure. Nature 477, 601–605. 10.1038/nature10407 | |
dc.relation | Kia et al., Improved genome sequencing using an engineered transposase. BMC Biotechnol 17, 6 (2017). | |
dc.relation | Kim E. Y., Zhang Y., Ye B., Segura A. M., Beketaev I., Xi Y., et al. (2015b). Involvement of Activated SUMO-2 Conjugation in Cardiomyopathy. Biochim. Biophys. Acta Mol. Basis Dis. 1852, 1388–1399. 10.1016/j.bbadis.2015.03.013 | |
dc.relation | Kitts A, Sherry S. Chapter 5 The Single Nucleotide Polymorphism Database (dbSNP) of Nucleotide Sequence Variation. The NCBI Handbook [Internet].2002. Disponı́vel em < http://www.ncbi.nlm.nih. gov/books/NBK21088/> | |
dc.relation | Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B. Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757. Epub 2019 Apr 24. PMID: 30924982 | |
dc.relation | Koning T, Jongbloed J, Sikkema-Raddatz B, Sinke R. Targeted next-generation sequencing panels for monogenic disorders in clinical diagnostics: the opportunities and challenges. Expert Rev Mol Diagn. 2015;15(1):61-70 | |
dc.relation | Konno T, Chang S, Seidman JG, Seidman CE. Genetics of hypertrophic cardiomyopathy. Curr Opin Cardiol. 2010 May;25(3):205-9. doi: 10.1097/HCO.0b013e3283375698. PMID: 20124998; PMCID: PMC2932754 | |
dc.relation | Kytövuori L, Junttila J, Huikuri H, Keinänen-Kiukaanniemi S, Majamaa K, Martikainen MH. Mitochondrial DNA variation in sudden cardiac death: a population-based study. Int J Legal Med. 2020 Jan;134(1):39-44. doi: 10.1007/s00414-019-02091-4. Epub 2019 May 31. PMID: 31152278; PMCID: PMC6949201 | |
dc.relation | Kosho Yoshida, Hiroaki Sato, Satoshi Kimura, Toshiko Tanaka, Kentaro Kasai, A case of sudden cardiac death due to mitochondrial disease, Legal Medicine, Volume 55, 2022, 102026, ISSN 1344-6223, https://doi.org/10.1016/j.legalmed.2022.102026 | |
dc.relation | Konstantinos F. Kantelis, Vassilios Asteriou, Aliki Papadimitriou-Tsantarliotou, Anthi Petrou, Lefteris Angelis, Petros Nicopolitidis, Georgios Papadimitriou, Ioannis S. Vizirianakis, Krahn, A. D., Sanatani, S., Gardner, M. J., & Arbour, L. (2013). Inherited heart rhythm disease:Negotiating the minefield for the practicing cardiologist. Canadian Journal of Cardiology, 29(1), 122-125. | |
dc.relation | Kulikova O, Brodehl A, Kiseleva A, et al. The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy. Genes. 2021 Jan;12(1):121. DOI: 10.3390/genes12010121 | |
dc.relation | Kulikovskaya I, McClellan GB, Levine R, Winegrad S. Multiple forms of cardiac myosin-binding protein C exist and can regulate thick filament stability. J Gen Physiol. 2007 | |
dc.relation | Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature protocols. 2009; 4: 1073–1082. https://doi.org/10.1038/nprot. 2009.86 PMID: 19561590 | |
dc.relation | L. Chen, R.S. Kass, A-Kinase anchoring protein 9 and IKs channel regulation, J. Cardiovasc. Pharmacol. 58 (2011) 459–413. doi:10.1097/FJC.0b013e318232c80c | |
dc.relation | Langmead, B., Salzberg, S. (2012). Fast gapped-read alignment with Bowtie 2. Nat Methods 9, 357–359 (2012). https://doi.org/10.1038/nmeth.1923 | |
dc.relation | Langmead, B., Trapnell, C., Pop, M. et al. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 10, R25 (2009). https://doi.org/10.1186/gb-2009-10-3-r25 | |
dc.relation | Larissa M. Dorsch, Diederik W.D. Kuster, Jan D.H. Jongbloed, Ludolf G. Boven, Karin Y. van Spaendonck-Zwarts, Albert J.H. Suurmeijer, Aryan Vink, Gideon J. du Marchie Sarvaas, Maarten P. van den Berg, Jolanda van der Velden, Bianca J.J.M. Brundel, Paul A. van der Zwaag, The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes,International Journal of Cardiology, Volume 323, 2021, Pages 251-258, ISSN 0167-5273, https://doi.org/10.1016/j.ijcard.2020.08.101 | |
dc.relation | Launay, P., Fleig, A., Perraud, A. L., Scharenberg, A. M., Penner, R., and Kinet, J. P. (2002). TRPM4 is a Ca2+-activated nonselective cation channel mediating cell membrane depolarization. Cell 109, 397–407. doi: 10.1016/S0092-8674(02)00719-5 | |
dc.relation | Lazo, J. S.; Aslan, D. C.; Southwick, E. C.; Cooley, K. A.; Ducruet, A. P.; Joo, B.; Vogt, A.; Leopold JA, Maron BA, Loscalzo J. The application of big data to cardiovascular disease: paths to precision medicine. J Clin Invest. 2020 Jan 2;130(1):29-38. doi: 10.1172/JCI129203. PMID: 31895052; PMCID: PMC6934200 | |
dc.relation | Li H. Fast construction of FM-index for long sequence reads. Bioinformatics. 2014 Nov 15; 30(22):3274-5 | |
dc.relation | Li Q, Wang K. (2017). InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. Am J Hum Genet. Feb 2;100(2):267-280. doi: 10.1016/j.ajhg.2017.01.004. Epub 2017 Jan 26. PMID: 28132688; PMCID: PMC5294755 | |
dc.relation | Li X, Li Z, Wang DWW, Wang DW and Wang Y. A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome. Cardiology 2020;145:623–632. https://doi.org/10.1159/000508033 | |
dc.relation | Li, C., Zhi, D., Wang, K. et al. MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning. Genome Med 14, 115 (2022). https://doi.org/10.1186/s13073-022-01120-z | |
dc.relation | Li, H. y col. El formato Sequence Alignment / Map y SAMtools. Bioinformatics 25, 2078-2079 (2009). (Samtoll mpilup) | |
dc.relation | Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation. Int. J. Molec. Med. 32: 144-150, 2013 | |
dc.relation | Liao P, Yong TF, Liang MC, Yue DT, Soong TW. Splicing for alternative structures of Cav1.2 Ca2+ channels in cardiac and smooth muscles. Cardiovasc Res. 2005 Nov 1;68(2):197-203. Epub 2005 Jul 27 | |
dc.relation | Li-Smerin Y, Hackos DH, Swartz KJ. elementos estructurales alfa-helicoidales dentro de los dominios de detección de voltaje de un canal K (+). J Gen Physiol. 2000; 115: 33–50 | |
dc.relation | Liu C, Zhao Q, Su T, et al. Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population. Forensic Sci Int 2013;231:82-7 | |
dc.relation | Loporcaro Christina G., S., David J. Tester, Joseph J. Maleszewski, Teresa Kruisselbrink, Michael J. Ackerman. 2014. Confirmation of Cause and Manner of Death Via a Comprehensive Cardiac autopsy Including Whole Exome Next-Generation Sequencing. Arch Pathol Lab Med. 138: 1083-1089 | |
dc.relation | Luca Ponzoni, Daniel A Peñaherrera, Zoltán N Oltvai, Ivet Bahar, Rhapsody: predicting the pathogenicity of human missense variants, Bioinformatics, Volume 36, Issue 10, 15 May 2020, Pages 3084–3092, https://doi.org/10.1093/bioinformatics/btaa127 | |
dc.relation | Lundby A, Olesen SP. KCNE3 is an inhibitory subunit of the Kv4.3 potassium channel. Biochem Biophys Res Commun. 2006 Aug 4;346(3):958-67. doi: 10.1016/j.bbrc.2006.06.004. Epub 2006 Jun 9. PMID: 16782062. | |
dc.relation | Masson, E., Zou, WB., Génin, E. et al. Expandir las pautas de clasificación de variantes de ACMG en un marco general. Hum Genomics 16 , 31 (2022). https://doi.org/10.1186/s40246-022-00407-x | |
dc.relation | M. Burrows and D. J. Wheeler, A Block-sorting Lossless Data Compression Algorithm, May 1994 | |
dc.relation | M. Lek, K.J. Karczewski, E.V. Minikel, et al., Analysis of protein-coding genetic variation in 60,706 humans, Nature 536 (7616) (2016) 285–291, https://doi.org/ 10.1038/nature19057 | |
dc.relation | M. Savarese, J. Sarparanta, A. Vihola, B. Udd, P. Hackman. Increasing role of titin mutations in neuromuscular disorders. J Neuromuscul Dis, 3 (2016), pp. 293-308 http://dx.doi.org/10.3233/JND-160158 | |
dc.relation | M.A. Makara, J. Curran, E.R. Lubbers, N.P. Murphy, S.C. Little, H. Musa, S. A. Smith, S.D. Unudurthi, M.V.S. Rajaram, P.M.L. Janssen, P.A. Boyden, E. A. Bradley, T.J. Hund, P.J. Mohler, Novel mechanistic roles for ankyrin-G in cardiac remodeling and heart failure, JACC Basic Transl. Sci. 5 (2018) 675–689, https://doi.org/10.1016/j.jacbts.2018.07.008. PMID: 30456339; PMCID: PMC6234521 | |
dc.relation | M.C. Trudeau, J.W. Warmke, B. Ganetzky, et al. HERG, a human inward rectifier in the voltage-gated potassium channel family Science, 269 (1995), pp. 92-95 | |
dc.relation | M.L. Marks, S.L. Whisler, C. Clericuzio, M. Keating, A new form of long QT syndrome associated with syndactyly., J. Am. Coll. Cardiol. 25 (1995) 59–64. doi:10.1016/0735-1097(94)00318-K | |
dc.relation | M.M. LeWinter, Y. Wu, S. Labeit, H. Granzier. Cardiac titin: Structure, functions and role in disease. Clin Chim Acta, 375 (2007), pp. 1-9 http://dx.doi.org/10.1016/j.cca.2006.06.035 | |
dc.relation | MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, et al. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) Nucleic Acids Research. 2017;45:D896–D901. (Database issue) | |
dc.relation | Maejima Y., Sadoshima J. (2014). SUMOylation. Circ. Res. 115, 686–689. 10.1161/CIRCRESAHA.114.304989 | |
dc.relation | Magi, S., Lariccia, V., Maiolino, M. et al. Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies. J Biomed Sci 24, 56 (2017). https://doi.org/10.1186/s12929-017-0364-6 | |
dc.relation | Mak C.M., Mok N.S., Shum H.C., Siu W.K., Chong Y.K., Lee H.H.C., Fong N.C., Tong S.F., Lee K.W., Ching C.K., et al. Sudden Arrhythmia Death Syndrome in Young Victims: A Five-Year Retrospective Review and Two-Year Prospective Molecular Autopsy Study by next-Generation Sequencing and Clinical Evaluation of Their First-Degree Relatives. Hong Kong Med. J. 2019;25:21–29. doi: 10.12809/hkmj187256 | |
dc.relation | Man, Yilong MS; Yi, Changying BS; Fan, Meili MS; Yang, Tianyu MD; Liu, Peng BS; Liu, Shiguang BS; Wang, Guangxin. Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review. Medicine 101(2):p e28551, January 14, 2022. | DOI: 10.1097/MD.0000000000028551 | |
dc.relation | Manrai AK, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016;375(7):655–665. doi: 10.1056/NEJMsa1507092 | |
dc.relation | Markwerth et al., 2020 P. Markwerth, T. Bajanowski, I. Tzimas, R. Dettmeyer Sudden cardiac death-update International Journal of Legal Medicine, 135 (2) (2020), pp. 483-495 | |
dc.relation | Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92(4):785–789. doi: 10.1161/01.CIR.92.4.785 | |
dc.relation | Maron BJ, Maron MS, Maron BA, Loscalzo J. Moving beyond the sarcomere to explain heterogeneity in hypertrophic cardiomyopathy: JACC Review Topic of the Week. J Am Coll Cardiol. 2019;73(15):1978–1986. doi: 10.1016/j.jacc.2019.01.061 | |
dc.relation | Marston S, Copeland O, Gehmlich K, Schlossarek S, Carrier L. How do MYBPC3 mutations cause hypertrophic cardiomyopathy? J Muscle Res Cell Motil. 2012 May;33(1):75-80. doi: 10.1007/s10974-011-9268-3 | |
dc.relation | Martínez-Barrios E, Cesar S, Cruzalegui J, Hernandez C, Arbelo E, Fiol V, Brugada J, Brugada R, Campuzano O, Sarquella-Brugada G. Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population. Biomedicines. 2022 Jan 5;10(1):10 | |
dc.relation | Maxwell, A. J. & Cooke, J. P. (1998) Cardiovascular effects of L-arginine. Curr. Opin. Nephrol. Hypertens. 7:63–70 | |
dc.relation | Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T.Prague. Novel mutations in the TAZ gene in patients with Barth síndrome. Prague Med Rep 2013;114(3):139-53. | |
dc.relation | Mazzaccara C, Lombardi R, Mirra B, Barretta F, Esposito MV, Uomo F, Caiazza M, Monda E, Losi MA, Limongelli G, D'Argenio V, Frisso G. Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes. Biomolecules. 2022 Oct 3;12(10):1417. doi: 10.3390/biom12101417. PMID: 36291626; PMCID: PMC9599286 | |
dc.relation | McKenna, A. et al. El kit de herramientas de análisis del genoma: un marco MapReduce para analizar datos de secuenciación de ADN de próxima generación. Genome Res 20, 1297-1303 (2010). (GAKT) | |
dc.relation | McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic right ventricular cardiomyopathy. April 18, 2005 [updated May 25, 2017]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available at http://www.ncbi.nlm.nih.gov/books/NBK1131/ PubMed citation | |
dc.relation | Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, et al., 2009. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: A comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 54:2065-74 | |
dc.relation | Mering V. (2005). STRING: known and predicted protein-protein associations, integrated and transferred across organisms. Nucleic Acids Res. 33(Suppl. 1): D433-D7 | |
dc.relation | Messer, A. E., Bayliss, C. R., El-Mezgueldi, M., Redwood, C. S., Ward, D. G., Leung, M.-C., et al. (2016). Mutations in Troponin T Associated with Hypertrophic Cardiomyopathy Increase Ca2+-Sensitivity and Suppress the Modulation of Ca2+-Sensitivity by Troponin I Phosphorylation. Arch. Biochem. Biophys. 601, 113–120. doi:10.1016/j.abb.2016.03.027 | |
dc.relation | Michael A. Makara, Jerry Curran, Sean C. Little, Hassan Musa, Iuliia Polina, Sakima A. Smith, Patrick J. Wright, Sathya D. Unudurthi, Jed Snyder, Vann Bennett, Thomas J. Hund and Peter J. Mohler Ankyrin-G Coordinates Intercalated Disc Signaling Platform to Regulate Cardiac Excitability In Vivo. Circulation Research. 2014;115:929–938. https://doi.org/10.1161/CIRCRESAHA.115.305154 | |
dc.relation | Miga KH, Newton Y, Jain M, Altemose N, Willard HF, Kent WJ. Centromere reference models for human chromosomes X and Y satellite arrays. Genome Res.2014; 24: 697–707. https://doi.org/10.1101/gr.159624.113 PMID: 24501022 | |
dc.relation | Modell SM, Bradley DJ, Lehmann MH. Genetic testing for long QT syndrome and the category of cardiac ion channelopathies. PLoS Curr. 2012 May 3:e4f9995f69e6c7. doi: 10.1371/4f9995f69e6c7. Citation on PubMed or Free article on PubMed Central | |
dc.relation | Mohler PJ, Gramolini AO, Bennett V. Ankyrins. J Cell Sci. 2002 Apr 15;115(Pt 8):1565-6. doi: 10.1242/jcs.115.8.1565. PMID: 11950874 | |
dc.relation | Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22. PMID: 17242276. | |
dc.relation | Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003 Feb 6;421(6923):634-9. doi: 10.1038/nature01335. PMID: 12571597 | |
dc.relation | Møller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009 Oct;17(10):1241-9. doi: 10.1038/ejhg.2009.34. | |
dc.relation | Morais Cabral JH, Lee A, Cohen SL, Chait BT, Li M, Mackinnon R. Estructura cristalina y análisis funcional del extremo N del canal de potasio HERG: un dominio PAS eucariota. Célula. 1998; 95 :649–655 | |
dc.relation | Morini et al., 2015. E. Morini, F. Sangiuolo, D. Caporossi, G. Novelli, F. Amati. Application of Next Generation Sequencing for personalized medicine for sudden cardiac death Frontiers in genetics, 6 (2015), p. 55 | |
dc.relation | Morris, S. M., Jr. Arginine: beyond protein. The American journal of clinical nutrition 2006, 83, 508S-512S | |
dc.relation | Mullaney JM, Mills RE, Pittard WS, Devine SE. Small insertions and deletions (INDELs) in human genomes. Hum Mol Genet. 2010;19:R131-R136 | |
dc.relation | Nakano Y, Shimizu W. Genetics of long-QT syndrome. J Hum Genet. 2016 Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25. Review. Citation on PubMed | |
dc.relation | Napolitano C, Antzelevitch C. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel. Circ Res. 2011 Mar 4;108(5):607-18. doi: 10.1161/CIRCRESAHA.110.224279. | |
dc.relation | Napolitano C, Mazzanti A, Bloise R, et al. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2022 Jun 23]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1289/ | |
dc.relation | Narula, N., Tester, D. J., Paulmichl, A., Maleszewski, J. J. & Ackerman, M. J. Postmortem whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series. Pediatr. Cardiol. 36, 768–778 (2015). | |
dc.relation | Nassal D, Yu J, Min D, Lane C, Shaheen R, Gratz D, Hund TJ. Regulation of Cardiac Conduction and Arrhythmias by Ankyrin/Spectrin-Based Macromolecular Complexes. J Cardiovasc Dev Dis. 2021 Apr 29;8(5):48. doi: 10.3390/jcdd8050048 | |
dc.relation | Neale, B.M. (2008). Statistical Genetics: Gene Mapping Through Linkage and Association. Taylor & Francis Group, 574 p | |
dc.relation | Necropsia medicolegal: DG-M-P-016- V3-2021. Instituto Nacional de Medicina Legal y Ciencias Forenses | |
dc.relation | Needleman SB, Wunsch CD. A general method applicable to the search for similarities in the amino acid sequence of two proteins. J Mol Biol. 1970 Mar;48(3):443-53. doi: 10.1016/0022-2836(70)90057-4. PMID: 5420325 | |
dc.relation | Neetu Singh Yadav, Pawan Kumar, Indra Singh, Chapter 12 - Structural and functional analysis of protein, Editor(s): Dev Bukhsh Singh, Rajesh Kumar Pathak, Bioinformatics, Academic Press, 2022, Pages 189-206, ISBN 9780323897754, https://doi.org/10.1016/B978-0-323-89775-4.00026-2 | |
dc.relation | Neubauer J., Lecca M.R., Russo G., Bartsch C., Medeiros-Domingo A., Berger W., Haas C. Exome Analysis in 34 Sudden Unexplained Death (SUD) Victims Mainly Identified Variants in Channelopathy-Associated Genes. Int. J. Leg. Med. 2018;132:1057–1065. doi: 10.1007/s00414-018-1775-y | |
dc.relation | Neubauer, J., Haas, C., Bartsch, C., Medeiros-Domingo, A. & Berger, W. Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int. J. Legal Med. 130, 1011–1021 (2016) | |
dc.relation | Neubauer, J., Lecca, M.R., Russo, G. et al. Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes. Int J Legal Med 132, 1057–1065 (2018). https://doi.org/10.1007/s00414-018-1775-y | |
dc.relation | Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16. PMID: 23861362; PMCID: PMC3887521. | |
dc.relation | Ng PC, Henikoff S. (2003). SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. Jul 1;31(13):3812-4. doi: 10.1093/nar/gkg509. PMID: 12824425; PMCID: PMC168916 | |
dc.relation | Nilius, B., Prenen, J., Tang, J., Wang, C., Owsianik, G., Jannssens, A., et al. (2005). Regulation of the Ca2+ sensitivity of the nonselective cation channel TRPM4. J. Biol. Chem. 280, 6423–6433. doi: 10.1074/jbc.M411089200 | |
dc.relation | Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062 | |
dc.relation | Novocraft, T. S. B. (2014). http://www.novocraft.com/products/novoalign/. | |
dc.relation | O’Neill,MJ., Yuko Wada, Lynn D. Hall, Devyn W. Mitchell, Andrew M. Glazer and Dan M. Roden. Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies,Circulation: Genomic and Precision Medicine. 2022;15. https://doi.org/10.1161/CIRCGEN.122.003782 | |
dc.relation | Ohno S, Toyoda F, Zankov DP, Yoshida H, Makiyama T, Tsuji K, Honda T, Obayashi K, Ueyama H, Shimizu W, Miyamoto Y, Kamakura S, Matsuura H, Kita T, Horie M. Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome. Hum Mutat. 2009 Apr;30(4):557-63. doi: 10.1002/humu.20834. PMID: 19306396. | |
dc.relation | Okuda H, Noguchi A, Kobayashi H, Kondo D, Harada KH, Youssefian S, Shioi H, Kabata R, Domon Y, Kubota K, Kitano Y, Takayama Y, Hitomi T, Ohno K, Saito Y, Asano T, Tominaga M, Takahashi T, Koizumi A. Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families. PLoS One. 2016 May 25;11(5):e0154827. doi: 10.1371/journal.pone.0154827. ECollection 2016 | |
dc.relation | Olesen MS, Refsgaard L, Holst AG, Larsen AP, Grubb S, Haunsø S, Svendsen JH, Olesen SP, Schmitt N, Calloe K. A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation. Cardiovasc Res. 2013 Jun 1;98(3):488-95. doi: 10.1093/cvr/cvt028. Epub 2013 Feb 11. PMID: 23400760. | |
dc.relation | Oliveri, L.M.; Buzaleh, A.M.; Gerez, E.N. An increase in O-GlcNAcylation of Sp1 down-regulates the gene expression of pi class glutathione S-transferase in diabetic mice. Biochem. Biophys. Rep. 2021, 27, 101049 | |
dc.relation | O'Mahony C, Akhtar MM, Anastasiou Z, et al. Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis. Heart 2019;105:623-31 | |
dc.relation | O'Mahony C, Jichi F, Pavlou M, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-MSC). Eur Heart J 2014;35:2010-20 | |
dc.relation | Orland, KM, Anderson, KB Autopsia molecular para muerte súbita cardíaca: estado actual y consideraciones. Curr Genet Med Rep 7, 145–152 (2019). https://doi.org/10.1007/s40142-019-00170-x | |
dc.relation | Oudit GY, Kassiri Z, Sah R, Ramirez RJ, Zobel C, Backx PH (mayo de 2001). "La fisiología molecular de la corriente de potasio saliente transitoria cardíaca (I (a)) en el miocardio normal y enfermo". J. Mol. Célula. Cardiol . 33 (5): 851–72. doi: 10.1006/jmcc.2001.1376 | |
dc.relation | Oulas, A., Minadakis, G., Zachariou, M. et al. Selecting variants of unknown significance through network-based gene-association significantly improves risk prediction for disease-control cohorts. Sci Rep 9, 3266 (2019). https://doi.org/10.1038/s41598-019-39796-w | |
dc.relation | Paul Khairy, Michael J Silka, Jeremy P Moore, James A DiNardo, Jim T Vehmeijer, Mary N Sheppard, Alexander van de Bruaene, Marie-A Chaix, Margarita Brida, Benjamin M Moore, Maully J Shah, Blandine Mondésert, Seshadri Balaji, Michael A Gatzoulis, Magalie Ladouceur, Sudden cardiac death in congenital heart disease, European Heart Journal, Volume 43, Issue 22, 7 June 2022, Pages 2103–2115, https://doi.org/10.1093/eurheartj/ehac104 | |
dc.relation | P. Garg, A. Oikonomopoulos, H. Chen, Y. Li, C.K. Lam, K. Sallam, M. Perez, R.L. Lux, M.C. Sanguinetti, J.C. Wu Genome editing of induced pluripotent stem cells to decipher cardiac channelopathy variant J Am Coll Cardiol, 72 (1) (2018), pp. 62-75, 10.1016/j.jacc.2018.04.041 | |
dc.relation | P.L. Jia, Y.B. Wang, H. Fu, W.L. Huang, S.R. Zhong, L. Ma, Y.H. Li, Y. Dong, Z. C. Sun, L. Yang, P.F. Qu, S. Zhao, Y.Q. Qu, Y.M. Xi, S.W. Wang, X. Tang, P.P. Lei, Postmortem analysis of 4 mutation hotspots of KCNQ1, KCNH2, and SCN5A genes in sudden unexplained death in Southwest of China, Am. J. Forensic Med Pathol. 39 (3) (2018) 218–222, https://doi.org/10.1097/PAF.0000000000000411. PMID: 29851656 | |
dc.relation | R. Walsh, K. Paar V, Jirak P, Larbig R, Zagidullin NS, Brandt MC, Lichtenauer M, Hoppe UC, Motloch LJ. Pathophysiology of Calcium Mediated Ventricular Arrhythmias and Novel Therapeutic Options with Focus on Gene Therapy. Int J Mol Sci. 2019 Oct 24;20(21). pii: E5304. doi: 10.3390/ijms20215304 | |
dc.relation | Pacheco Bautista, D., González Pérez, M. and Algredo Badillo, I. 2015. From sequencing to hardware acceleration of DNA alignment software: A integral review. Mexican Journal of Biomedical Engineering. 36, 3 (Sep. 2015), 257-275. DOI:https://doi.org/10.17488/RMIB.36.3.6 | |
dc.relation | Pahl E, Sleeper LA, Canter CE, et al. Incidence of and risk factors for sudden cardiac death in children with dilated cardiomyopathy: a report from the Pediatric Cardiomyopathy Registry. J Am Coll Cardiol 2012;59:607-15 | |
dc.relation | Palladino A, Papa AA, Petillo R, Scutifero M, Morra S, Passamano L, Nigro V, Politano L. The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution. Genes (Basel). 2022 Jan 28;13(2):258. doi: 10.3390/genes13020258. PMID: 35205305; PMCID: PMC8871839 | |
dc.relation | Pamuła-Piłat, J., Tęcza, K., Kalinowska-Herok, M. et al. Genetic 3′UTR variations and clinical factors significantly contribute to survival prediction and clinical response in breast cancer patients. Sci Rep 10, 5736 (2020). https://doi.org/10.1038/s41598-020-62662-z | |
dc.relation | Paolo Ferragina and Giovanni Manzini. Opportunistic data structures with applications. Proceedings 41st Annual Symposium on Foundations of Computer Science. 2000:390-398 | |
dc.relation | Patel DM, Green KJ Desmosomas en el corazón: una revisión de los análisis clínicos y mecánicos. Comun de celular Adhesivos 2014; 21 :109–128. doi: 10.3109/15419061.2014.906533 | |
dc.relation | Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam H, Mort M, Cooper DN, Sebat J, Iakoucheva LM, Mooney SD, Radivojac P. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nat. Commun. 11, 5918 (2020) | |
dc.relation | PJ Mohler, I. Rivolta, C. Napolitano, et al. La mutación Nav1.5 E1053K que causa el síndrome de Brugada bloquea la unión a la anquirina-G y la expresión de Nav1.5 en la superficie de los cardiomiocitos Proc Natl Acad Sci USA , 101 ( 2004 ) , págs. 17533 – 17538 | |
dc.relation | Poloni, Giulia; De Bortoli, Marzia; Calore, Martina; Rampazzo, Alessandra; Lorenzon, Alessandra. Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing. Journal of Cardiovascular Medicine: June 2016 - Volume 17 - Issue 6 - p 399-407 doi: 10.2459/JCM.0000000000000385 | |
dc.relation | Prakoso, D.; Lim, S.Y.; Erickson, J.R.; Wallace, R.S.; Lees, J.G.; Tate, M.; Kiriazis, H.; Donner, D.G.; Henstridge, D.C.; Davey, J.R.; et al. Fine-tuning the cardiac O-GlcNAcylation regulatory enzymes governs the functional and structural phenotype of the diabetic heart. Cardiovasc. Res. 2021 | |
dc.relation | Previs MJ, Beck Previs S, Gulick J, Robbins J, Warshaw DM. Molecular mechanics of cardiac myosin-binding protein C in native thick filaments. Science. 2012 Sep 7;337(6099):1215-8. doi: 10.1126/science.1223602 | |
dc.relation | Priori SG, Pandit SV, Rivolta I, et al., 2005. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 96: 800-807. | |
dc.relation | Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, et al. 2001. Genotype-phenotype correlation in the long QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103: 89-95 | |
dc.relation | Priori SG, Wilde AA, Horie M, et al. 2013. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: Expert consensus statement on inherited primary arrhythmia syndromes: Document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. e75-106 | |
dc.relation | Priori SG. 2009. Arrhythmias: Unexplained sudden cardiac death–back to clinical evaluation. Nat Rev Cardiol. 6: 678-9. | |
dc.relation | Qin, C.X.; Sleaby, R.; Davidoff, A.J.; Bell, J.R.; De Blasio, M.J.; Delbridge, L.M.; Chatham, J.C.; Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM. Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2012 May;33(9):1128-36. doi: 10.1093/eurheartj/ehr451. Epub 2011 Dec 23. | |
dc.relation | Raquel Neves, MD, David J. Tester, BS, Michael A. Simpson, PhD, Elijah R. Behr, MD, Michael J. Ackerman, MD, PhD, John R. Giudicessi, MD, PhD. Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death. Genomic and Precision Medicine. 2022;15 https://doi.org/10.1161/CIRCGEN.121.003497Circulation | |
dc.relation | R. De Zio, A. Gerbino, C. Forleo, M. Pepe, S. Milano, S. Favale, G. Procino, M. Svelto, M. Carmosino Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome J Cell Mol Med, 23 (9) (2019), pp. 6331-6342, 10.1111/jcmm.14521 | |
dc.relation | Radusky L, Modenutti C, Delgado J, Bustamante JP, Vishnopolska S, Kiel C, Serrano L, Marti M and Turjanski A (2018) VarQ: A Tool for the Structural and Functional Analysis of Human Protein Variants. Front. Genet. 9:620. doi: 10.3389/fgene.2018.00620 | |
dc.relation | Ramsey, I. S., Delling, M., and Clapham, D. E. (2006). An introduction to TRP channels. Annu. Rev. Physiol. 68, 619–647. doi: 10.1146/annurev.physiol.68.040204.100431 | |
dc.relation | Reva, B., Antipin, Y., & Sander, C. 2011. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Research, 39(17), el18-el18. http://doi.org/10.1093/nar/gkr407 | |
dc.relation | Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015). ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868; PMCID: PMC4544753 | |
dc.relation | Ritchie, R.H. Insights into the role of maladaptive hexosamine biosynthesis and O-GlcNAcylation in development of diabetic cardiac complications 2017, 116, 45–56 | |
dc.relation | Roberts AM, et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134 | |
dc.relation | Romero J, Mejia-Lopez E, Manrique C, et al. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC/D): A systematic literature review. Clin Med Insights Cardiol 2013;7:97-114 | |
dc.relation | Rong Huo, Yue Sheng, Wen-Ting Guo & De-Li Dong (2014) The potential role of Kv4.3 K+ channel in heart hypertrophy, Channels, 8:3, 203-209, DOI: 10.4161/chan.28972 | |
dc.relation | Roquemore, E.P.; Chevrier, M.R.; Cotter, R.J.; Hart, G.W. Dynamic O-GlcNAcylation of the small heat shock protein alpha B-crystallin. Biochemistry 1996, 35, 3578–3586 | |
dc.relation | Sessa, Francesco, Massimiliano Esposito, Giovanni Messina, Giulio Di Mizio, Nunzio Di Nunno, and Monica Salerno. 2021. "Sudden Death in Adults: A Practical Flow Chart for Pathologist Guidance" Healthcare 9, no. 7: 870. https://doi.org/10.3390/healthcare9070870 | |
dc.relation | S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H.L. Rehm, Standards and guide- lines for the interpretation of sequence variants: a joint consensus recommenda- tion of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet. Med. 17 (5) (2015) 405–423, https://doi.org/10.1038/gim.2015.30 | |
dc.relation | S.J. Carlus, I.S. Almuzaini, M. Karthikeyan, L. Loganathan, G.S. Al-Harbi, F.H. Carlus, A.H. Al-Mazroea, M.M. Morsy, H.M. Abo-Haded, A.M. Abdallah, K.M. Al-Harbi . A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs Eur Rev Med Pharmacol Sci | |
dc.relation | S.M. Purcell, International Schizophrenia Consortium; Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, Sklar P. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009 Aug 6;460(7256):748-52. doi: 10.1038/nature08185. Epub 2009 Jul 1. PMID: 19571811; PMCID: PMC3912837 | |
dc.relation | S.O. Marx, J. Kurokawa, S. Reiken, H. Motoike, J. D’Armiento, A.R. Marks, R.S. Kass, requirement of a macromolecular signaling complex for β adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel, Science. 295 (2002) 496–499. doi:10.1126/science.1066843 | |
dc.relation | Salavert J, Tomás A, Tárraga J, Medina I, Dopazo J, Blanquer I. Fast inexact mapping using advanced tree exploration on backward search methods. BMC Bioinformatics. 2015 Jan 28;16:18. doi: 10.1186/s12859-014-0438-3. PMID: 25626517; PMCID: PMC4384339 | |
dc.relation | Samuel Chauveau, Alexandre Janin, Marianne Till, Elodie Morel, Philippe Chevalier, Gilles Millat.Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing,HeartRhythm Case Reports, Volume 3, Issue 12, 2017 Pages 574-578 ISSN 2214-0271, https://doi.org/10.1016/j.hrcr.2017.08.003. | |
dc.relation | Sanchez O., Campuzano O., Fernández-Falgueras A., Sarquella-Brugada G., Cesar S., Mademont I., Mates J., Pérez-Serra A., Coll M., Pico F., et al. Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. PLoS ONE. 2016;11:e0167358. doi: 10.1371/journal.pone.0167358 | |
dc.relation | Sarquella-Brugada, G et al (2016) Sudden infant death syndrome caused by cardiac arrythmias: only a matter of genes encoding ion channels Int J Legal Med130:415-420 | |
dc.relation | Schlüter, K. D., Schulz, R. & Schreckenberg, R. Arginase induction and activation during ischemia and reperfusion and functional consequences for the heart. Front. Physiol. 6, 65 (2015). | |
dc.relation | Schmidt, T. L., Jasper, M.-E., Weeks, A. R., & Hoffmann, A. A. (2021). Unbiased population heterozygosity estimates from genome-wide sequence data. Methods in Ecology and Evolution, 12, 1888– 1898. https://doi.org/10.1111/2041-210X.13659 | |
dc.relation | Schober T, Huke S, Venkataraman R, Gryshchenko O, Kryshtal D, Hwang HS, Baudenbacher FJ, Knollmann BC. 2012. Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia. Circ Res. Vol. 111: 170–179 | |
dc.relation | Schwartz PJ, Ackerman MJ, George AL Jr, Wilde AAM. Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol. 2013 Jul 16;62(3):169-180. doi: 10.1016/j.jacc.2013.04.044. Epub 2013 May 15. PMID: 23684683; PMCID: PMC3710520. | |
dc.relation | Schwartz, C. E. & Chen, C. F. Progress in detecting genetic alterations and their association with human disease. J Mol Biol 425, 3914–8 (2013) | |
dc.relation | Schwarz, J., Cooper, D., Schuelke, M. et al. (2014). MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11, 361–362. https://doi.org/10.1038/nmeth.2890 | |
dc.relation | Schwarz, JM., Cooper, DN., Schuelke, M., & Seelow, D. 2014. MutationTaster2: mutationprediction for the deep-sequencing age. Nature methods, 11(4), 361-362 | |
dc.relation | Shafaattalab Sanam, Li Alison Y, Gunawan Marvin G, Kim BaRun, Jayousi Farah, Maaref Yasaman, Song Zhen, Weiss James N, Solaro R. John, Qu Zhilin, Tibbits Glen F. Mechanisms of Arrhythmogenicity of Hypertrophic Cardiomyopathy-Associated Troponin T (TNNT2) Variant I79N. Frontiers in Cell and Developmental Biology.Vol. 9,2021, ISSN=2296-634X.DOI:10.3389/fcell.2021.787581. https://www.frontiersin.org/articles/10.3389/fcell.2021.787581 | |
dc.relation | Shanks G.W., Tester D.J., Ackerman J.P., Simpson M.A., Behr E.R., White S.M., Ackerman M.J. Importance of Variant Interpretation in Whole-Exome Molecular Autopsy. Circulation. 2018;137:2705–2715. doi: 10.1161/CIRCULATIONAHA.117.031053 | |
dc.relation | Shaun Purcell., PLIN(1.07) Documentation. 2010. http://zzz.bwh.harvard.edu/plink/pdf.shtml and http://zzz.bwh.harvard.edu/plink/dist/plink-doc-1.07.pdf. | |
dc.relation | Shifu Chen, Yanqing Zhou, Yaru Chen, Jia Gu., 2018. fastp: an ultra-fast all-in-one FASTQ preprocessor. Bioinformatics, Vol 34: i884–i890. https://doi.org/10.1093/bioinformatics/bty560 | |
dc.relation | Shihab HA, Gough J, Cooper DN, et al. (2013). Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat. 13;34(1):57-65. doi:10.1002/humu.22225 | |
dc.relation | Shinomiya, H, Kato, H, Kuramoto, Y, et al. Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy. FASEB J. 2021; 35:e21994. doi:10.1096/fj.202100800R | |
dc.relation | Shorvon and Tomson, 2011 S. Shorvon, T. Tomson Sudden unexpected death in epilepsy The Lancet, 378 (9808) (2011), pp. 2028-2038 | |
dc.relation | Siepel A, Pollard K, Haussler D (2006) New methods for detecting lineage-specific selection. In: Proc. 10th Int’l Conf. on Research in Computational Molecular Biology. Berlin: Springer-Verlag, pp.190–205 | |
dc.relation | Siragam V, Cui X, Masse S, et al. TMEM43 mutation p. S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. PLoS ONE. 2014; 9:e109128 | |
dc.relation | Smith, T.F. and Waterman, M.S. (1981) Identification of Common Molecular Subsequences. Journal of Molecular Biology, 147, 195-197. http://dx.doi.org/10.1016/0022-2836(81)90087-5 | |
dc.relation | Song, J., Kang, JS., Kim, YE. et al. Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. J Hum Genet 62, 615–620 (2017). https://doi.org/10.1038/jhg.2017.8 | |
dc.relation | Spielmann, N., Miller, G., Oprea, T.I. et al. Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nat Cardiovasc Res 1, 157–173 (2022). https://doi.org/10.1038/s44161-022-00018-8 | |
dc.relation | Stefl, S., Nishi, H., Petukh, M., Panchenko, A. R. & Alexov, E. Molecular mechanisms of disease-causing missense mutations. J Mol Biol 425, 3919–36 (2013). | |
dc.relation | Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, et al. Overexpression of the Cytokine BAFF and Autoimmunity Risk. N Engl J Med. 2017 Apr 27;376(17):1615–1626. doi: 10.1056/NEJMoa1610528 | |
dc.relation | Steven Xijin Ge and others, ShinyGO: a graphical gene-set enrichment tool for animals and plants, Bioinformatics, Volume 36, Issue 8, April 2020, Pages 2628–2629, https://doi.org/10.1093/bioinformatics/btz931 | |
dc.relation | Sucharski HC, Dudley EK, Keith CBR, El Refaey M, Koenig SN, Mohler PJ. Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function. Biomolecules. 2020 Jan 31;10(2):211. doi: 10.3390/biom10020211. PMID: 32023981; PMCID: PMC7072516 | |
dc.relation | Sun B, Sheng Y, Huo R, Hu CW, Lu J, Li SL, Liu X, Wang YC, Dong DL. Bone morphogenetic protein-4 contributes to the down-regulation of Kv4.3 K+ channels in pathological cardiac hypertrophy. Biochem Biophys Res Commun. 2013 Jul 12;436(4):591-4. doi: 10.1016/j.bbrc.2013.05.113. Epub 2013 Jun 6. PMID: 23747723 | |
dc.relation | Swayne LA, Murphy NP, Asuri S, Chen L, Xu X, McIntosh S, Wang C, Lancione PJ, Roberts JD, Kerr C, Sanatani S, Sherwin E, Kline CF, Zhang M, Mohler PJ, Arbour LT. Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome. Circ Cardiovasc Genet. 2017 Jan;10(1):e001537. doi: 10.1161/CIRCGENETICS.116.001537. PMID: 28196901; PMCID: PMC5312931 | |
dc.relation | T. D. Wu and S. Nacu, “Fast and SNP-tolerant detection of complex variants and splicing in short reads,” Bioinformatics, vol. 26, no. 7, pp. 873–881, 2010. (GSNAP) | |
dc.relation | T.J. Pugh, M.A. Kelly, S. Gowrisankar, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med., 16 (2014), pp. 601-608 http://dx.doi.org/10.1038/gim.2013.204 | |
dc.relation | Takayama K, Ohno S, Ding WG, Ashihara T, Fukumoto D, Wada Y, et al. A de novo gain-of-function KCND3 mutation in early repolarization syndrome. Heart Rhythm. 2019 Nov;16(11):1698–1706. DOI:https://doi.org/10.1016/j.hrthm.2019.05.033 | |
dc.relation | Taylor, M.R.G.; Slavov, D.; Gajewski, A.; Vlcek, S.; Ku, L.; Fain, P.R.; Carniel, E.; Di Lenarda, A.; Sinagra, G.; Boucek, M.M.; et al. Thymopoietin (Lamina-Associated Polypeptide 2) Gene Mutation Associated with Dilated Cardiomyopathy. Hum. Mutat. 2005, 26, 566–574. | |
dc.relation | Teng, S., Michonova-Alexova, E. & Alexov, E. Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions. Curr Pharm Biotechnol 9, 123–33 (2008). | |
dc.relation | Tester David J., Argelia Medeiros-Domingo, Melissa L. Will, Carla M. Haglund, and Michael J. Ackerman, (2012). Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing. Mayo Clin. Proc. 87(6): 524-539 | |
dc.relation | Tester DJ, Ackerman MJ. 2011. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation. 123: 1021-37 | |
dc.relation | Tester DJ, Medeiros-Domingo A, Will ML, et al., 2011. Unexplained drownings and the cardiac channelopathies: A molecular autopsy series. Mayo Clin Proc. 86:941-7 | |
dc.relation | Toepfer CN, et al. Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. Sci Transl Med. 2019;11(476): eaat1199. doi: 10.1126/scitranslmed.aat1199 | |
dc.relation | Tomé Esteban M, Garcia Pinilla J, McKenna WJ. 2004. Update in Arrhythmogenic Right Ventricular Cardiomyopathy: genetic, clinical presentation and risk stratification. Rev Esp Cardiol 57(8):757-67 | |
dc.relation | Towbin JA. Inherited cardiomyopathies. Circ J 78: 2347–2356, 2014. doi: 10.1253/circj.cj-14-0893 | |
dc.relation | Trujillano D, Ramos MD, González J, et al. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet. 2013;50:455-62 | |
dc.relation | Trujillano D, Perez B, González J, et al. Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. Eur J Hum Genet. 2014;22:528-34 | |
dc.relation | Tsao CW, Aday AW, Almarzooq ZI, Alonso A, Beaton AZ, Bittencourt MS, Boehme AK, Buxton AE, Carson AP, Commodore-Mensah Y, Elkind MSV, Evenson KR, Eze-Nliam C, Ferguson JF, Generoso G, Ho JE, Kalani R, Khan SS, Kissela BM, Knutson KL, Levine DA, Lewis TT, Liu J, Loop MS, Ma J, Mussolino ME, Navaneethan SD, Perak AM, Poudel R, Rezk-Hanna M, Roth GA, Schroeder EB, Shah SH, Thacker EL, VanWagner LB, Virani SS, Voecks JH, Wang N-Y, Yaffe K, Martin SS; on behalf of the American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee. Heart disease and stroke statistics—2022 update: a report from the American Heart Association [published online ahead of print Wednesday, January 26, 2022]. Circulation. doi: 10.1161/CIR.0000000000001052 | |
dc.relation | Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S. Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3. Citation on PubMed or Free article on PubMed Central | |
dc.relation | Vadrot, Nathalie, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, and Brigitte Buendia. 2023. "Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies" Cells 12, no. 2: 337. https://doi.org/10.3390/cells12020337 | |
dc.relation | Vaidyanathan R, Vega AL, Song C, Zhou Q, Tan BH, Berger S, Makielski JC, Eckhardt LL. The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9). J Biol Chem. 2013 Jun 14;288(24):17472-80. doi: 10.1074/jbc.M112.435370. Epub 2013 May 2. Erratum in: J Biol Chem. 2013 Oct 4;288(40):28948. Tan, Bihua [corrected to Tan, Bi-Hua]. PMID: 23640888; PMCID: PMC3682547. | |
dc.relation | Valdivia CR, Medeiros-Domingo A, Ye B, Shen WK, Algiers TJ, Ackerman MJ, et al., 2010. Loss-of-function mutation of the SCN3B-encoded sodium channel {beta} 3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc Res. 86:392-400. | |
dc.relation | Valle, G., Arad, M. & Volpe, P. Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants. J Muscle Res Cell Motil 41, 251–258 (2020). https://doi.org/10.1007/s10974-020-09587-2 | |
dc.relation | Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10. doi: 10.1016/j.jacc.2004.07.045. PMID: 15519027 | |
dc.relation | Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006 Nov 14;114(20):2104-12 | |
dc.relation | Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML, Vriend G. (2010). Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC bioinformatics. 11: 548. | |
dc.relation | Verma R, Ghosh JK. Structural and functional changes in a synthetic S5 segment of KvLQT1 channel as a result of a conserved amino acid substitution that occurs in LQT1 syndrome of human. Biochim Biophys Acta. 2010 Mar;1798(3):461-70. doi: 10.1016/j.bbamem.2009.12.014. Epub 2010 Jan 4. PMID: 20044973 | |
dc.relation | Vriesendorp PA, Schinkel AF, Liebregts M, et al. Validation of the 2014 European Society of Cardiology guidelines risk prediction model for the primary prevention of sudden cardiac death in hypertrophic cardiomyopathy. Circ Arrhythm Electrophysiol 2015;8:829-35 | |
dc.relation | W. Wong, J.D. Scott, AKAP signalling complexes: focal points in space and time, Nat. Rev. Mol. Cell Biol. 5 (2004) 959–970. doi:10.1038/nrm1527 | |
dc.relation | Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, Özcelik C, Osterziel KJ, Loeffler M, Maisch B, Regitz-Zagrosek V, Schunkert H, Scheffold T; German Competence Network Heart Failure. Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi: 10.1093/eurjhf/hfr074. | |
dc.relation | Wang X, et al. O-GlcNAcase deficiency suppresses skeletal myogenesis and insulin sensitivity in mice through the modulation of mitochondrial homeostasis. Diabetologia. 2016;59(6):1287–1296 | |
dc.relation | Wang, J., et al., Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol, 2014. 71(5): p. 650-1 | |
dc.relation | Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: Functional Annotation of Genetic Variants from High-Throughput Sequencing Data. Nucleic Acids Research, 38, e164. http://dx.doi.org/10.1093/nar/gkq603 | |
dc.relation | Warde-Farley D, Donaldson SL, Comes O, Zuberi K, Badrawi R, Chao P, et al. (2010). The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function. Nucleic Acids Res. 38: W214–20 | |
dc.relation | Ware JS, et al. Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med. 2016 Jan 6. Doi: 10.1056/NEJMoa1505517 | |
dc.relation | Ware JS, Walsh R, Cunningham F, Birney E, Cook SA. Paralogous annotation of disease-causing variants in long QT syndrome genes. Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7. PMID: 22581653; PMCID: PMC4640174 | |
dc.relation | Watanabe H, Minamino T. Rare Variants in ANK2 Associated With Various Inherited Arrhythmia Syndromes. Circ J. 2016 Nov 25;80(12):2423-2424. doi: 10.1253/circj.CJ-16-1085. Epub 2016 Nov 3. PMID: 27818464 | |
dc.relation | Wei, Jinhuan; Ni, Xuejun; Dai, Yanfei; Chen, Xi; Ding, Sujun; Bao, Jingyin; Xing, Lingyan. 2021. Identification of genes associated with sudden cardiac death: a network- and pathway-based approach JF. Journal of Thoracic Disease; Vol 13, No 6 (June 28, 2021): https://jtd.amegroups.com/article/view/53234 | |
dc.relation | Wei, Q., Wang, L., Wang, Q., Kruger, W. D. & Dunbrack, R. L., Jr Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. Proteins 78, 2058–74 (2010). | |
dc.relation | Wemhöner K, Friedrich C, Stallmeyer B, Coffey AJ, Grace A, Zumhagen S, Seebohm G, Ortiz-Bonnin B, Rinné S, Sachse FB, Schulze-Bahr E, Decher N. Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol Cell Cardiol. 2015 Mar;80:186-95. doi: 10.1016/j.yjmcc.2015.01.002 | |
dc.relation | Wende AR. Post-translational modifications of the cardiac proteome in diabetes and heart failure. Proteomics Clinical Applications. 2016;10(1):25–38 | |
dc.relation | Wilde AAM, Amin AS, Postema PG Diagnosis, management and therapeutic strategies for congenital long QT syndrome Heart 2022;108:332-338 | |
dc.relation | Wolf A, Zalpour C, Theilmeier G, Wang BY, Ma A, Anderson B, Tsao PS, Cooke JP. Dietary L-arginine supplementation normalizes platelet aggregation in hypercholesterolemic humans. J Am Coll Cardiol. 1997 Mar 1;29(3):479-85. doi: 10.1016/s0735-1097(97)00523-8 | |
dc.relation | Wu CT, Qi XY, Huang H, Naud P, Dawson K, Yeh YH, Harada M, Kuo CT, Nattel S. Disease and region-related cardiac fibroblast potassium current variations and potential functional significance. Cardiovasc Res. 2014 Jun 1;102(3):487-96. doi: 10.1093/cvr/cvu055. Epub 2014 Mar 4. PMID: 24596399; PMCID: PMC4030513 | |
dc.relation | Y. Kobayashi, S. Yang, K. Nykamp, J. Garcia, S.E. Lincoln, S.E. Topper, Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation, Genome Med. 9 (1) (2017) 13. https://doi.org/10.1186/s13073-017-0403-7. | |
dc.relation | Y. Li, L. Chen, R.S. Kass, C.W. Dessauer, The A-kinase anchoring protein Yotiao facilitates complex formation between adenylyl cyclase type 9 and the IKs potassium channel in heart, J. Biol. Chem. 287 (2012) 29815–29824. doi:10.1074/jbc.M112.380568 | |
dc.relation | Y.G. Yap, A.J. Camm, Drug induced QT prolongation and torsades de pointes, Heart. 89 (2003) 1363–1372. doi:10.1136/heart.89.11.1363. | |
dc.relation | Yamakage M, Namiki A. Calcium channels--basic aspects of their structure, function and gene encoding; anesthetic action on the channels--a review. Can J Anaesth. 2002 Feb;49(2):151-64 | |
dc.relation | Yang, H. and Wang, K. (2015) Genomic Variant Annotation and Prioritization with ANNOVAR and wANNOVAR. Nature Protocols, 10, 1556-1566. http://dx.doi.org/10.1038/nprot.2015.105 | |
dc.relation | Year: 2020 Vol. 24 - N. 14 Pages: 7732-7744 DOI: 10.26355/eurrev_202007_22299. | |
dc.relation | Yeung CY, Lam KS, Li SW, et al. Sudden cardiac death after myocardial infarction in type 2 diabetic patients with no residual myocardial ischemia. Diabetes Care 2012;35:2564-9. | |
dc.relation | Zhang S, Lei L, Fan Z, Su S, Duo J, Luan Q, Lu Y, Di L, Wang M, Da Y. Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies. Front Neurol. 2021 Nov 19;12:766942. doi: 10.3389/fneur.2021.766942. PMID: 34867752; PMCID: PMC8639696. | |
dc.relation | Zhang, Z. et al. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet 22, 3789–97 (2013). | |
dc.relation | Zhang, Z., Teng, S., Wang, L., Schwartz, C. E. & Alexov, E. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat 31, 1043–9 (2010). | |
dc.relation | Zipes et al., 2006. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. Circulation. 114:e385-484. | |
dc.relation | Zou, C., Gong, J., & Li., H. 2013. An improved sequence based prediction protocol for DNAbinding proteins using SVM and comprehensive feacture analysis. BMC Bioinformatics, 14(1). 1. http://doi.org/10.1186/1471-2105--14-90 | |
dc.rights | Atribución-NoComercial-SinDerivadas 4.0 Internacional | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | Identificación de mutaciones en genes asociados a canalopatías hereditarias mediante análisis exómico | |
dc.type | Trabajo de grado - Doctorado | |