Results 71 to 80 of about 5,009 (204)

The "backdoor pathway" of androgen synthesis in human male sexual development. [PDF]

, 2019
Mammalian sex determination (male versus female) is largely controlled by genes, whereas sex differentiation (development of reproductive structures) is largely controlled by hormones. Work in the 20th century indicated that female external anatomy was a
Auchus, Richard J, Miller, Walter L
core   +2 more sources

Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease

Human Mutation, Volume 2026, Issue 1, 2026.
The observational studies confirmed the high prevalence of metabolic dysfunction–associated steatotic liver disease (MASLD) in patients with Type 2 diabetes mellitus (T2DM), but whether this reflects a shared genetic etiology and exists underlying causal relationships remains unknown. Here, we utilized the largest scale cross‐trait analysis from genome‐
Zijun Zhu, Hailong Li, Xin Wang, Xinyu Chen, Liang Cheng, Priya Gusain   +5 more
wiley   +1 more source

CYP21A2 gene mutationsin the women with recurrent miscarriage

Journal of obstetrics and women's diseases, 2012
Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %.
Natalya Sergeevna Osinovskaya, Iskender Yuryevich Sultanov, Tatyana Eduardovna Ivaschenko, Vladislav Sergeevich Baranov   +3 more
openaire   +2 more sources

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS Short title: CYP21A2 genotyping using MALDI-TOF MS

, 2023
Abstract Background Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. Methods This study aimed to develop a novel MALDI-TOF MS assay that can identify common variants and
Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang   +8 more
openaire   +1 more source

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

Molecular Genetics and Metabolism Reports, 2021
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies.
Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita   +4 more
openaire   +3 more sources

From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes

Advanced Genetics, Volume 6, Issue 4, December 2025.
This review begins with an introduction, summarizing the research background in pseudogene studies. It then contains three aspects: identification of pseudogenes, detailing their classification and features in metazoan genomes; functional pseudogenes, introducing their reactivation and regulation mechanisms; and pseudogenes’ contribution to species ...
Mengyao Sun, Yanni Ma, Jia Yu
wiley   +1 more source

Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]

, 2016
Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana, Gonçalves, João, Kay, Teresa, Lopes, Lurdes, Lurdes de Matos, Maria   +4 more
core  

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

DNA methylation profiling of the human major histocompatibility complex: A pilot study for the Human Epigenome Project [PDF]

, 2004
The Human Epigenome Project aims to identify, catalogue, and interpret genome-wide DNA methylation phenomena. Occurring naturally on cytosine bases at cytosine-guanine dinucleotides, DNA methylation is intimately involved in diverse biological processes ...
Andrews, TD, Beck, S, Berlin, K, Cox, AV, Fischer, J, Gut, IG, Hildmann, T, Howe, KL, Lewin, J, Novik, KL, Olek, A, Otto, T, Rakyan, VK, Tost, J   +13 more
core  

A CYP21A2 based whole-cell system in Escherichia coli for the biotechnological production of premedrol [PDF]

, 2015
Additional file 4: Fig. S4. In vitro conversion of medrane with the redox systems AdR/Adx/CYP21A2 or arh1/Adx/CYP21A2 with either NADH or NADPH. 400 ÎźM Medrane was converted in a reconstituted in vitro assay with Adx based redox systems containing AdR ...
Bernd Janocha, Frank Hannemann, Lina Schiffer, Rita Bernhardt, Simone Brixius-Anderko   +4 more
core   +5 more sources