Results 151 to 160 of about 7,344,533 (183)

Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia

Endocrine, 2019
Funding Information: Catalina Tobar, MD for presenting this case report to the national annual meeting of endocrinology in Chile. Fondo Nacional de Desarrollo Cientifico y Tecnologico (FONDECYT) Project Number 1160695, IMII P09/016-F. Publisher Copyright:
E. Arteaga, F. Valenzuela, C. Lagos, M. Lagos, Alejandra Martínez, R. Baudrand, C. Carvajal, C. Fardella   +7 more
semanticscholar   +3 more sources

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Molecular Analysis of CYP21A2 Gene Mutations among Congenital Adrenal Hyperplasia Patients in Iraq

Challenges in Disease and Health Research Vol. 10, 2021
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq.
Ruqayah G. Y. Al-Obaidi, Bassam M. S. Al-Musawi, Munib A. Al-Zubaidi, C. Oberkanins, S. Németh, Yusra G. Y. Al-Obaidi   +5 more
semanticscholar   +1 more source

Determination of the carriage of the «chimeric» CYP21A1P/CYP21A2 gene in families with a proband with non-classical congenital adrenal hyperplasia

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2022
Более 90% случаев врожденной дисфункции коры надпочечников (ВДКН) связаны с изменениями в гене CYP21A2, из которых около 20% приходится на различные типы «химерных» генов CYP21A1P/CYP21A2.
Осиновская, Н.С., Султанов, И.Ю., Главнова, О.Б., Насыхова, Ю.А., Глотов, А.С.   +4 more
semanticscholar   +1 more source

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

Experimental and clinical endocrinology & diabetes, 2020
Congenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21 ...
B. Carvalho, C. Marques, Rita Santos-Silva, M. Fontoura, D. Carvalho, F. Carvalho   +5 more
semanticscholar   +1 more source

Functional and Structural Analysis of Four Novel Mutations of CYP21A2 Gene in Italian Patients with 21-Hydroxylase Deficiency

Hormone and Metabolic Research, 2014
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the 21-hydroxylase gene (CYP21A2), coding for the enzyme 21-hydroxylase (21-OH). About 95% of the mutations arise from gene conversion between CYP21A2 and
L Ghizzoni, Mauro Maccarrone, Marco Cappa   +2 more
exaly   +2 more sources

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort

Hormone Research in Paediatrics, 2019
Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC).
Rita Santos-Silva, Rita M. Cardoso, Lurdes Lopes, M. Fonseca, Filipa Espada, Lurdes Sampaio, C. Brandão, A. Antunes, Graciete Bragança, R. Coelho, Teresa Bernardo, P. Vieira, R. Morais, A. Leite, Luís F. M. Ribeiro, B. Carvalho, A. Grangeia, R. Oliveira, M. Oliveira, V. Rey, J. Rosmaninho‐Salgado, B. Marques, A. M. Garcia, A. Meireles, J. Carvalho, A. Sequeira, A. Mirante, T. Borges   +27 more
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Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA‐A*33:01; B*14:02; C*08:02 as a genetic marker

Australasian Journal of Dermatology, 2019
The aetiology of frontal fibrosing alopecia is unknown, and its genetic aspect remains uncharacterised. The aim of this report is to elucidate if major histocompatibility complex is associated with familial frontal fibrosing alopecia.
M. Porriño-Bustamante, M. López-Nevot, J. Aneiros-Fernández, Jorge Casado-Ruíz, Susana García-Linares, Susana Pedrinacci-Rodríguez, E. García‐Lora, María Antonia Martín-Casares, M. Fernández-Pugnaire, S. Arias-Santiago   +9 more
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Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.

Biochimie, 2018
Steroid 21-Hydroxylase deficiency is an inherited autosomal recessive metabolic disorder of the adrenal steroidogenesis caused due to mutations in the CYP21A2 gene in 95% of CAH cases.
Ragini Khajuria, R. Walia, A. Bhansali, R. Prasad   +3 more
semanticscholar   +1 more source

Carriers of a pathological variant in CYP21A2 gene- clinical and hormonal status

Endocrine Abstracts, 2023
S. Schipor, C. Procopiuc, C. Stancu, M. Vintila, A. Brehar, A. Muresan, D. Manda, A. Caragheorgheopol, Dumitrica Alina Elena, L. Udrea, S. Vladoiu, I. Gherlan   +11 more
semanticscholar   +1 more source

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

Endocrine, 2020
Priyanka V. Gangodkar, V. Khadilkar, P. Raghupathy, Rakesh Kumar, A. Dayal, D. Dayal, A. Ayyavoo, Tushar Godbole, R. Jahagirdar, Kavitha Bhat, Neerja Gupta, S. Kamalanathan, S. Jagadeesh, S. Ranade, Nikhil Lohiya, R. Oke, K. Ganesan, K. Khatod, M. Agarwal, Nikhil D Phadke, A. Khadilkar   +20 more
semanticscholar   +1 more source