نتایج جستجو برای: ژن cyp21a2
تعداد نتایج: 16028 فیلتر نتایج به سال:
Chlamydomonas reinhardtii adapts to the stress of CO(2)-limiting conditions through the induction of a set of genes including CAH1, which encodes a periplasmic carbonic anhydrase. CAH1 is up-regulated under low-CO(2) conditions (air containing 0.04% [v/v] CO(2)) in the presence of light, whereas it is down-regulated under high-CO(2) conditions (5% [v/v] CO(2)) or in the dark. In an effort to id...
Intraspecific Evolution of Human RCCX Copy Number Variation Traced by Haplotypes of the CYP21A2 Gene
Triple A syndrome is caused by mutations in AAAS encoding the protein ALADIN. We investigated the role of ALADIN in the human adrenocortical cell line NCI-H295R1 by either over-expression or down-regulation of ALADIN. Our findings indicate that AAAS knock-down induces a down-regulation of genes coding for type II microsomal cytochrome P450 hydroxylases CYP17A1 and CYP21A2 and their electron don...
Objective The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype-phenotype relationships are unknown. Methods We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. Results The most frequent mutation among the 43 21-OHD cases was p.Ile172Asn (allele frequency, 36.0%), followe...
Nonclassical form of 21-hydroxylase deficiency (NC 21OHD) as a frequent variant on the milder end of the disease spectrum has been widely acknowledged, but its potential contribution to adrenocortical tumorigenesis has not been fully elucidated. We report a 66-year old male case of bilateral adrenocortical incidentaloma, associated with partial 21OHD without any episodes of hypoadrenocorticism ...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder commonly caused by mutation of the CYP21A2 gene, resulting in deficiency enzyme required for cortisol synthesis cortex. In 90-95% cases, deficient 21-hydroxylase (21-OH), with incidence ranging from 1 5,000 to 15,000 live births across various ethnic and racial backgrounds. classical 21-OH (21-OHD) CAH, excessive androgen e...
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