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Hereditary Cancer Program (ProCanHe): 21-years of experience at a referral registry in Argentina
(BioMed Central, 2019)
Registries in South America were initiated in the early 90´s with thehelp of Henry T. Lynch. The Programa de Cancer Hereditario (Pro.Can.He), is a multidisciplinary program established in 1996 at theHospital Italiano, ...
Characterization of two group III potato CDPKs, StCDPK22 and StCDPK24, that contain three EF-Hand motifs in their CLDs
(Elsevier France-Editions Scientifiques Medicales Elsevier, 2021-05-09)
Four members of the potato (Solanum tuberosum L.) calcium-dependent protein kinase (CDPK) family StCDPK22/23/24 and StCDPK27, present three functional EF-hands motifs in their calmodulin-like domain (CLD). StCDPK22/23/24 ...
A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis
(Wiley, 2018-09)
We report on the presence of a rare nonsense mutation (rs149847328, p.Arg227Ter) in the glucokinase regulator (<i>GCKR</i>) gene in an adult patient with nonalcoholic fatty liver disease (NAFLD), morbid obesity, and type ...
Dengue virus targets RBM10 deregulating host cell splicing and innate immune response
(Oxford University Press, 2020-07)
RNA-seq experiments previously performed by our laboratories showed enrichment in intronic sequences and alterations in alternative splicing in dengue-infected human cells. The transcript of the SAT1 gene, of well-known ...
Mitochondrial Pentatricopeptide Repeat Protein, EMB2794, Plays a Pivotal Role in NADH Dehydrogenase Subunit nad2 mRNA Maturation in Arabidopsis thaliana
(Oxford University Press, 2020-03)
The Arabidopsis genome encodes >450 proteins containing the pentatricopeptide repeat (PPR) motif. The PPR proteins are classified into two groups, termed as P and P Long-Short (PLS) classes. Typically, the PLS subclass ...
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene
(Wiley Blackwell Publishing, Inc, 2012-04)
Background: Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide resulting in hypothyroidism. Mutations in thyroid peroxidase (TPO) gene appear to be the most common ...
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms
(BioScientifica, 2007-10-01)
Thyroglobulin (TG) functions as the matrix for thyroid hormone synthesis. Thirty-five different loss-of-function mutations in the TG gene have been reported. These mutations are transmitted in an autosomal recessive mode. ...
PNPLA3, the triacylglycerol synthesis/hydrolysis/storage dilemma, and nonalcoholic fatty liver disease
(W J G Press, 2012-11)
Genome-wide and candidate gene association studies have identified several variants that predispose individuals to developing nonalcoholic fatty liver disease (NAFLD). However, the gene that has been consistently involved ...
Characterization of StPPI1, a proton pump interactor from Solanum tuberosum L. that is up-regulated during tuber development and by abiotic stress
(Springer, 2011-04)
Plasma membrane proton pumps (PM H+-ATPases) are involved in several physiological processes, such as growth and development, and abiotic stress responses. The major regulators of the PM H+-ATPases are proteins of the ...
The geographic distribution and complex evolutionary history of the NX-2 trichothecene chemotype from Fusarium graminearum
(Academic Press Inc Elsevier Science, 2016-01)
Fusarium graminearum and 21 related species comprising the F. sambucinum species complex lineage 1 (FSAMSC-1) are the most important Fusarium Head Blight pathogens of cereal crops world-wide. FSAMSC-1 species typically ...