Results 91 to 100 of about 4,066 (184)

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation

Heliyon
Objective: To explore the correlation between different CYP21A2 pathogenic gene mutations and clinical phenotypes in Congenital adrenal hyperplasia (CAH) patients.
Yanru Hou, Yian Li, Jiajia Ai, Li Tian
doaj   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center. [PDF]

Curr Issues Mol Biol
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with a ...
Fylaktou I, Mertzanian A, Farakla I, Gryparis A, Vasilakis IA, Binou M, Charmandari E, Kanaka-Gantenbein C, Sertedaki A.   +8 more
europepmc   +2 more sources

Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

Data in Brief, 2018
This article presents the data set regarding the functional characterization of mutations in CYP21A2 gene in CAH patients as described in “Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital ...
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
doaj   +1 more source

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

Molecular Genetics and Metabolism Reports, 2014
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel.
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller   +5 more
doaj   +1 more source

SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation [PDF]

, 2020
Rami Salameh, Janna Prater
openalex   +1 more source

Expression of genes encoding mineralocorticoid biosynthetic enzymes and the mineralocorticoid receptor, and levels of mineralocorticoids in the bovine follicle and corpus luteum

The Journal of Reproduction and Development, 2019
Unlike sex steroids, mineralocorticoids have attracted limited attention in ovarian physiology. Recent studies on primates have indicated possible local synthesis and action of mineralocorticoids in the ovary.
Memory MUKANGWA, Koki TAKIZAWA, You AOKI, Seizo HAMANO, Masafumi TETSUKA   +4 more
doaj   +1 more source

cyp21a2 Knockout Tadpoles Survive Metamorphosis Despite Low Corticosterone [PDF]

, 2022
Bidisha Paul, Leena Shewade, Daniel R. Buchholz   +2 more
openalex   +1 more source

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing [PDF]

, 2017
Fernanda A. Correa, Marcela M. França, Qing Fang, Qianyi Ma, Tânia A.S.S. Bachega, Andresa De Santi Rodrigues, Bilge A. Ozel, Jun Z. Li, Berenice B. Mendonça, Alexander A.L. Jorge, Luciani R. Carvalho, Sally A. Camper, Ivo J.P. Arnhold   +12 more
openalex   +1 more source

Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation.

Journal of Clinical Endocrinology and Metabolism
CONTEXT 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic variants in CYP21A2. High homology between CYP21A2 and its pseudogene CYP21A1P causes mismatches, leading to deletions and CYP21A1P/CYP21A2 chimeras.
Xiaoxiang Zhang, Yinjie Gao, Lin Lu, Yaqing Cao, Wei Zhang, Xueyan Wu, Anli Tong, Shi Chen, Xi Wang, J. Mao, M. Nie   +10 more
semanticscholar   +1 more source