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Nueva mutación heterocigota en el gen de la proteína regulatoria aguda de la esteroideogénesis (star) en un paciente 46,xy con hiperplasia adrenal congénita lipoideaNovel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia
(Medicina (buenos Aires), 2013-03)
StAR forma parte del complejo multiproteico transduceosoma, encargado del transporte de colesterol y que facilita su entrada a la mitocondria. Mutaciones recesivas en el gen STAR causan formas clásicas y no clásicas de ...
Inactivation of glutamine synthetase-coding gene glnA increases susceptibility to quinolones through increasing outer membrane protein F in salmonella enterica serovar typhi
(Frontiers Media, 2020)
Ciprofloxacin is the choice treatment for infections caused by Salmonella Typhi, however, reduced susceptibility to ciprofloxacin has been reported for this pathogen. Considering the decreased approbation of new antimicrobials ...
Increased resting intracellular calcium modulates NF-κB-dependent inducible nitric-oxide synthase gene expression in dystrophic mdx skeletal myotubes
(2012)
Duchenne muscular dystrophy (DMD) is a genetic disorder caused by dystrophin mutations, characterized by chronic inflammation and severe muscle wasting. Dystrophic muscles exhibit activated immune cell infiltrates, ...
Papel das mutações da alfa-sinucleína associadas à doença de parkinson sobre a estabilidade termodinâmica das fibras amilóides
(Universidade Federal do Rio de JaneiroBrasilInstituto de QuímicaUFRJ, 2018)
Candidate gene selection and detailed morphological evaluations of fs8.1, a quantitative trait locus controlling tomato fruit shape
(Oxford University Press, 2015-09)
fs8.1 is a major quantitative trait locus (QTL) that controls the elongated shape of tomato (Solanum lycopersicum) fruit. In this study, we fine-mapped the locus from a 47Mb to a 3.03Mb interval on the long arm of chromosome ...
Impairment of the Natriuretic Peptide System in Follitropin Receptor Knockout Mice and Reversal by Estradiol: Implications for Obesity-Associated Hypertension in Menopause
(2008)
Estrogen is considered a major regulator of adipose tissue in females. Estrogen increases circulating levels of atrial natriuretic peptide (ANP), a hormone with renal and cardiovascular effects. The aim of this study was ...
Transcriptional profiling of embryos lacking the lipoprotein receptor SR-B1 reveals a regulatory circuit governing a neurodevelopmental or metabolic decision during neural tube closure
(2018)
Abstract
Background
The high-density lipoprotein receptor SR-B1 mediates cellular uptake of several lipid species, including cholesterol and vitamin E. During early mouse ...