نتایج جستجو برای: ژن cyp21a2
تعداد نتایج: 16028 فیلتر نتایج به سال:
Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH--the largest cohort of CAH patients reported to date. Of the families studied, 1,507 had at least one member affected with one of three known forms of...
Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...
Androgens are essential for sexual development and reproduction. However, androgen regulation in health and disease is poorly understood. We showed that human adrenocortical H295R cells grown under starvation conditions acquire a hyperandrogenic steroid profile with changes in steroid metabolizing enzymes HSD3B2 and CYP17A1 essential for androgen production. Here we studied the regulatory mecha...
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. In 90-95% of cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed CYP21A2 and P450c21). The IVS-II-656 (C/A>G) mutation leaves ~2.0% enzyme activity, and comprises 25% of the classic CYP21 deficiency alleles and 51% of alleles in the salt-wasting form. We performed direct molecular diagnosis o...
21-hydroxylase deficiency (21-ohd) caused congenital adrenal hyperplasia (cah) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (co) synthesis in the adrenal glands. testicular adrenal rest tumors (tarts) are rarely the presenting symptoms of cah. here, we describe a case of simple virilizing cah with tarts, in a 15-year-old boy. the p...
کلزا یکی از گیاهان مهم روغنی می باشد که تنها بعد از سویا و نخل روغنی جایگاه سوم را در تولید جهانی به خود اختصاص داده است. این گیاه عضو خانواده براسیکا می باشد. یکی از مهمترین عوامل محدود کننده تولید دانه های روغنی از جمله کلزا مجموعه ای از آفات هستند که به این گیاه خسارت وارد می کنند. آفات حشره ای گیاهان روغنی کلزا، منحصراً مختص خانواده شب بو هستند که از جمله این آفات، آفات پروانه ای می باشند. آ...
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