Literature DB >> 22771554

Analysis of CYP21A1P and the duplicated CYP21A2 genes.

Li-Ping Tsai, Hsien-Hsiung Lee.   

Abstract

The RCCX module on chromosome 6p21.3 has 3 possible forms: monomodular, bimodular, and trimodular. Chromosomes with 4 RCCX modules are very rare. In the monomodule, most of the CYP21A1P genes do not exist. However, haplotypes of the RCCX module with more than one CYP21A2 gene were observed. Obviously, the gene located downstream of the XA gene can possibly include the CYP21A2 as well as the CYP21A1P gene. Crown
Copyright © 2012. Published by Elsevier B.V. All rights reserved.

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Year:  2012        PMID: 22771554     DOI: 10.1016/j.gene.2012.06.045

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  4 in total

1.  [Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China].

Authors:  Jing Li; Yan-Fei Luo; Mireguli Maimaiti
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2016-02

Review 2.  Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.

Authors:  Paola Concolino; Alessandra Costella
Journal:  Mol Diagn Ther       Date:  2018-06       Impact factor: 4.074

3.  A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.

Authors:  Violeta Anastasovska; Mirjana Kocova; Nikolina Zdraveska; Maja Stojiljkovic; Anita Skakic; Kristel Klaassen; Sonja Pavlovic
Journal:  Endocrine       Date:  2021-03-14       Impact factor: 3.633

4.  Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.

Authors:  Julianna Anna Szabó; Ágnes Szilágyi; Zoltán Doleschall; Attila Patócs; Henriette Farkas; Zoltán Prohászka; Kárioly Rácz; George Füst; Márton Doleschall
Journal:  PLoS One       Date:  2013-11-29       Impact factor: 3.240

  4 in total

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