Results 101 to 110 of about 6,020 (257)

cyp21a2 knockout tadpoles survive metamorphosis despite low corticosterone.

Endocrinology, 2022
Corticosteroids are vital for organ maturation such that reduced corticosteroid signaling during post-embryonic development causes death in terrestrial vertebrates.
Bidisha Paul, Leena H Shewade, D. Buchholz   +2 more
semanticscholar   +1 more source

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life‐threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir   +8 more
wiley   +1 more source

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population

Frontiers in Endocrinology, 2023
ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene.
Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic   +7 more
doaj   +1 more source

A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.

, 2017
There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene.
Doleschall, M, Doleschall, Z, Erhardt, É, Fekete, G, Gereben, B, Gláz, E, Hadzsiev, K, Igaz, P, Koncz, K, Korbonits, M, Luczay, A, Németh, K, Patócs, A, Prohászka, Z, Rácz, K, Szilágyi, Á, Tóth, M, Török, D   +17 more
core   +2 more sources

Comprehensive Mutation Analysis of the CYP21A2 Gene [PDF]

The Journal of Molecular Diagnostics, 2013
Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of adrenal steroidogenesis caused by mutations in the CYP21A2 gene. Direct comparison of established and novel methodologies of CYP21A2 genetic analysis in a large cohort representing a wide range of genotypes has not been previously reported ...
Zhi Xu, Nazli B. McDonnell, Wuyan Chen, Deborah P. Merke   +3 more
openaire   +2 more sources

Method Development and Clinical Utility for Simultaneous Measurement of 21‐Deoxycortisol, 17‐Hydroxyprogesterone, Cortisol, and Cortisone Levels in Human Plasma Using UHPLC‐MS/MS

Advances in Pharmacological and Pharmaceutical Sciences, Volume 2025, Issue 1, 2025.
A simple and efficient validated assay for quantifying 21‐deoxycortisol (21‐DOC), 17‐hydroxyprogesterone (17‐OHP), cortisol, and cortisone in human plasma has been developed using ultra‐high performance liquid chromatography coupled with tandem mass spectrometry (UHPLC‐MS/MS).
Syed N. Alvi, Saleh Al dgither, Ali Al-Odaib, Koteshwara Mudigonda   +3 more
wiley   +1 more source

The spectrum of CYP21A2 gene mutations from 16 families of congenital adrenal hyperplasia: Genotype-phenotype correlation

Indian Journal of Endocrinology and Metabolism, 2021
Aim: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to 21-hydroxylase deficiency resulting from mutations in CYP21A2 gene.
Subbiah Sridhar, Ramajayam Govindhan, Balasankar Soundian, Maheshkumar Poomarimuthu, Karuppasamy Nallan, Santhanakrishnan Ramesh kumar, Subbiah Eagappan, Vasanthiy Natarajan, Sangumani Jayaraman   +8 more
doaj   +1 more source

In Silico Pharmacological and Pharmacokinetic Study of Marmeline From Bael Fruit for the Treatment of Alzheimer’s Disease

Advances in Pharmacological and Pharmaceutical Sciences, Volume 2025, Issue 1, 2025.
Epidemiological studies identify risk factors for Alzheimer’s disease (AD), which induces oxidative stress and inflammation. Pharmaceuticals aimed against the nuclear receptor PPARγ, including TZDs, have been associated with considerable negative consequences in AD treatment.
Tassanee Ongtanasup, Onkamon Jampa, Nattawan Suwannakul, Komgrit Eawsakul, Benedetto Natalini   +4 more
wiley   +1 more source

Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia

MethodsX, 2022
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contribute ...
Lavanya Ravichandran, Deny Varghese, Parthiban R, Asha H. S, Sophy Korula, Nihal Thomas, Aaron Chapla   +6 more
doaj  

ỨNG DỤNG KỸ THUẬT MULTIPLEX LIGATION – DEPENDENT PROBE AMPLIFICATION (MLPA) KHẢO SÁT ĐỘT BIẾN MẤT ĐOẠN GEN CYP21A2 GÂY BỆNH TĂNG SẢN THƯỢNG THẬN BẨM SINH

Tạp chí Y học Việt Nam
Tăng sản thượng thận bẩm sinh (TSTTBS) là bệnh di truyền lặn trên nhiễm sắc thể thường do thiếu hụt enzyme 21-hydroxylase. Sự thiếu hụt enzyme 21-hydroxylase xảy ra do các đột biến trên gen CYP21A2.
N. Nguyễn, Huỳnh Minh Quân Nguyễn, A. Hoàng   +2 more
semanticscholar   +1 more source