Results 1 to 10 of about 7,344,064 (138)

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene [PDF]

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Juan Tan, Shuping Jin, Linxiang Huang, Binbin Shao, Yan Wang, Yuguo Wang, Jingjing Zhang, Min Su, Jianxin Tan, Qing Cheng, Zhengfeng Xu   +10 more
doaj   +5 more sources

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background 21‐Hydroxylase deficiency (21‐OHD) caused by the CYP21A2 gene mutations is the most common form of congenital adrenal hyperplasia. It is an autosomal recessive disorder that results in defective synthesis of cortisol and aldosterone.
Yang Liu, Jie Zheng, Nan Liu, Xiaowei Xu, Xinjie Zhang, Ying Zhang, Guoxu Li, Geli Liu, Chunquan Cai, Jianbo Shu   +9 more
doaj   +4 more sources

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

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   +3 more sources

Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene [PDF]

Current Issues in Molecular Biology
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis and shows elevated ACTH concentrations, which in turn has downstream effects.
Paola Concolino
doaj   +3 more sources

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche [PDF]

International Journal of Endocrinology, 2020
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH).
Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani   +7 more
doaj   +3 more sources

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene. [PDF]

Hormones (Athens), 2023
Background Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p21.3, the CYP21A2 gene is partially overlapped by the TNXB gene, the two residing in tandem ...
Fanis P, Skordis N, Phylactou LA, Neocleous V.   +3 more
europepmc   +2 more sources

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function. [PDF]

J Endocr Soc, 2022
Steroid 21-hydroxylase is an enzyme of the steroid pathway that is involved in the biosynthesis of cortisol and aldosterone by hydroxylation of 17α-hydroxyprogesterone and progesterone at the C21 position.
Schubert T, Reisch N, Naumann R, Reichardt I, Landgraf D, Quitter F, Thirumalasetty SR, Heninger AK, Sarov M, Peitzsch M, Huebner A, Koehler K.   +11 more
europepmc   +2 more sources

ODP046 Initial Lessons from a Prescreening Protocol to Identify Participants with Classic CAH Potentially Eligible for Gene Therapy Treatment with BBP-631, an Adeno-associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene [PDF]

J Endocr Soc, 2022
Here we present the design and early findings from CAH-300 /NCT05101902, a prescreening protocol to identify participants who are potentially eligible for the CAH-301 Phase 1/2 treatment trial with BBP-631, an AAV5-based gene therapy for classic ...
K. Bharucha, D. Weinstein, Kathleen Kirby, R. Auchus, M. Geffner, Mimi Kim, K. Sarafoglou, Rachel Williams, A. Shaywitz   +8 more
europepmc   +2 more sources

Identification of a Homozygous Variant in the <i>CYP21A2</i> Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA. [PDF]

Genes (Basel)
Background/Objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the CYP21A2 gene associated with 21-hydroxylase deficiency and increased levels of adrenal androgens.
Petrillo N, Marcella S, Sirica R, Ianniello M, Ruggiero R, Mori A, Castiello R, Ramiro C, D'Angelo R, Pennacchio G, Barletta E, Passaro R, Fico A, Savarese G.   +13 more
europepmc   +2 more sources

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene. [PDF]

Ann Pediatr Endocrinol Metab
Purpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess.
Yoon JH, Hwang S, Kim JH, Kim GH, Yoo HW, Choi JH.   +5 more
europepmc   +2 more sources