Results 21 to 30 of about 4,066 (184)

CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum

Avicenna journal of medical biotechnology
Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98%
Danial Zangene, Hossein Moravej, Homa Ilkhanipoor, Anis Amirhakimi, Zhila Afshar, Mona Entezam   +5 more
openalex   +3 more sources

The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

Clinical, Cosmetic and Investigational Dermatology, 2021
Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Ting Yang, Wenjuan Wu, Liming Tian, Dengfeng Zhang, Xiao-Yan Yang, Jue Qi, Ying Tu, Li He   +7 more
openalex   +4 more sources

Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene

Data in Brief, 2016
This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in “The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort” (R. Khajuria, R. Walia, A.
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
openalex   +3 more sources

High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency [PDF]

PLoS ONE, 2008
The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs).
Silvia Parajes, Celsa Quinteiro, Fernando Domı́nguez, Lourdes Loidi   +3 more
openalex   +3 more sources

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency. [PDF]

Orphanet J Rare Dis
Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct ...
Xia Y, Yu F, Bai Y, Jiang L, Shi P, Jiang Z, Kong X.   +6 more
europepmc   +2 more sources

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

Endocrine Connections, 2021
Objective: Treatment of classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess.
Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle   +12 more
doaj   +1 more source

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

JCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Advances in Laboratory Medicine, 2023
La recombinación entre CYP21A2-TNXB y sus respectivos pseudogenes (CYP21A1P-TNXA) da lugar a quimeras responsables del síndrome CAH-X (SCAH-X). Los pacientes con este síndrome presentan manifestaciones clínicas de hiperplasia suprarrenal congénita (HSC ...
Martínez Figueras Laura, Muñoz Pacheco Rafael, García González Dolores, Arriba Domènech María, Ezquieta Zubicaray Begoña   +4 more
doaj   +1 more source

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2

Frontiers in Pharmacology, 2022
CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases.
Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha, Arnaldo Zaha, Maria Lucia Rosa Rossetti, Maria Lucia Rosa Rossetti, Amit V. Pandey, Amit V. Pandey   +10 more
doaj   +1 more source

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Advances in Laboratory Medicine, 2023
The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos ...
Figueras Laura Martínez, Pacheco Rafael Muñoz, González Dolores García, Domènech María Arriba, Zubicaray Begoña Ezquieta   +4 more
doaj   +1 more source