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Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity
(Elsevier, 2018-12)
Connexinophaties are a collective of diseases related to connexin channels and hemichannels. In particular many Cx26 alterations are strongly associated to human deafness. Calcium plays an important role on this structures ...
Structure-based evaluation of non-nucleoside inhibitors with improved potency and solubility that target HIV reverse transcriptase variants
(American Chemical Society, 2015-03)
The development of novel non-nucleoside inhibitors (NNRTIs) with activity against variants of HIV reverse transcriptase (RT) is crucial for overcoming treatment failure. The NNRTIs bind in an allosteric pocket in RT ∼10 Å ...
Identification of the long polar fimbriae gene variants in the locus of enterocyte effacement-negative Shiga toxin-producing Escherichia coli strains isolated from humans and cattle in Argentina
(Wiley Blackwell Publishing, Inc, 2010-07)
The long polar fimbriae (Lpf) is one of few adhesive factors of Shiga toxin-producing Escherichia coli (STEC) and it is associated with colonization of the intestine. Studies have demonstrated the presence of lpf genes in ...
Lesch-Nyhan disease and its variants: Phenotypic and mutation spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase deficiency in Argentine patients
(Scielo, 2021-03)
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) ...
An update on genetic variants of the NKX2-5
(Wiley-liss, div John Wiley & Sons Inc., 2020-05)
NKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In ...
Role of ABCB1 and glutathione S‑transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection
(Spandidos Publications, 2020-02)
In Argentina, porphyria cutanea tarda (PCT) is strongly associated with infection with human immunodefi-ciency virus (HIV); however, whether the onset of this disease is associated with HIV infection and/or the antiretroviral ...
Overexpression of survivin in pediatric Hodgkin lymphoma tumor cells: Characterization of protein expression and splice-variants transcription profile
(Academic Press Inc Elsevier Science, 2019-06)
Survivin is abundantly expressed during fetal development but absent in most differentiated adult tissues; an exception being components of the immune system, such as B and T lymphocytes. Beyond acting as a master regulator ...
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant
(Academic Press Inc Elsevier Science, 2004-04)
The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel ...
Profiling Lgals9 splice variant expression at the fetal-maternal interface: implications in normal and pathological human pregnancy
(Oxford University Press, 2013)
Disruption of fetal-maternal tolerance mechanisms can contribute to pregnancy complications, including spontaneous abortion. Galectin-9 (LGALS9), a tandem repeat lectin associated with immune modulation, is expressed in ...
Genetic variants in STAT3 are associated with nonalcoholic fatty liver disease
(Academic Press Ltd - Elsevier Science Ltd, 2008-10)
Aims: To investigate the role of gene variants and derived haplotypes of the STAT3 transcription factor in nonalcoholic fatty liver disease (NAFLD) and their relation with the clinical disease severity. Patients & Methods: ...