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Genomic organization of the human thyroglobulin gene: The complete intron-exon structure
(BioScientifica, 2001-10)
Objective: In order to complete the knowledge of the genomic organization of the human thyroglobulin gene, the present work was designed to establish the intron-exon organization from exon 24 to exon 35 and to construct a ...
Identification of core components of the exon junction complex in trypanosomes
(Elsevier Science, 2009-08)
In animal cells, the exon junction complex (EJC) is deposited onto mRNAs during the second step of splicing, 20-24 nt upstream of the exon-exon junction. The EJC core contains four proteins: Mago, Y14, eIF4AIII and Btz. ...
Theragnosis for Duchenne Muscular Dystrophy
(Frontiers Media, 2021-06)
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most ...
Nonsense-Associated Alternative Splicing of the Human Thyroglobulin Gene
(Springer, 2012-12-01)
Introduction: We have described in previous articles a nonsense mutation (4588C>T, R1511X) in exon 22 of the thyroglobulin (TG) gene in a member of a family with a complex history of congenital goiter. In the mutated thyroid ...
A New Case of Congenital Goiter with Hypothyroidism Caused by a Homozygous p.R277X Mutation in the Exon 7 of the Thyroglobulin Gene: A Mutational Hot Spot Could Explain the Recurrence of This Mutation
(Endocrine Society, 2005-06)
Identification of thyroglobulin (TG) gene mutations may provide insight into the structure-function relationship. In this study, we have performed molecular studies in a patient with congenital goiter, hypothyroidism, and ...
How Slow RNA Polymerase II Elongation Favors Alternative Exon Skipping
(Cell Press, 2014-05)
Splicing is functionally coupled to transcription, linking the rate of RNA polymerase II (Pol II) elongation and the ability of splicing factors to recognize splice sites (ss) of various strengths. In most cases, slow Pol ...
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion
(John Wiley & Sons Inc, 2009-02)
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe ...
Mutaciones en JAK2, MPL y CALR en neoplasias mieloproliferativas: análisis de disociación de alta resoluciónMutations in JAK2, MPL and CALR in myeloproliferative neoplasms: High Resolution Melting analysisMutações em JAK2, MPL e CALR em neoplasias mieloproliferativas: análise de dissociação em alta resolução
(Federación Bioquímica de la Provincia Buenos Aires, 2017-11)
La policitemia vera (PV), la trombocitemia esencial (TE) y la mielofibrosisidiopática (MI) constituyen las Neoplasias Mieloproliferativas cromosomaFiladelfia negativas (NMP Ph-neg). La mutación V617F en el exón 14 delgen ...
Genetic variation of the second exon of ELA-DRB genes in Argentine Creole horses
(Wiley Blackwell Publishing, Inc, 2008-06-28)
Genetic variation in the equine leucocyte antigen-DRB (ELA-DRB) second exon was investigated using polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism (RFLP) of PCR products (PCR-RFLP) ...
Selection on MHC in a context of historical demographic change in 2 closely distributed species of tuco-Tucos (ctenomys australis and C. Talarum)
(Oxford Univ Press Inc, 2017-06-09)
Selection necessarily acts within the same current and historical demographic framework as neutral evolutionary processes, and the outcome of the interplay between these forces may vary according to their relative strength. ...