A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form-Reference-Cited by-同舟云学术

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A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

Published:2009-07-22 Issue:1 Volume:10 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Concolino Paola,Mello Enrica,Minucci Angelo,Giardina Emiliano,Zuppi Cecilia,Toscano Vincenzo,Capoluongo Ettore

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-10-72.pdf

Reference24 articles.

1. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000, 21: 245-291. 10.1210/er.21.3.245.

2. Speiser PW: Nonclassic adrenal hyperplasia. Rev Endocr Metab Disord. 2009, 10: 77-82. 10.1007/s11154-008-9097-x.

3. Bachelot A, Chakthoura Z, Rouxel A, Dulon J, Touraine P: Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. Horm Res. 2008, 69: 203-11. 10.1159/000113020.

4. White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL: Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci USA. 1985, 82: 1089-1093. 10.1073/pnas.82.4.1089.

5. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY: Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. J Biol Chem. 1999, 274: 12147-12156. 10.1074/jbc.274.17.12147.

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1. Novel and Rapid Molecular Diagnosis Methods in Comprehensive Genetic Analysis of 21-hydroxylase Deficiency;2024-04-02

2. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;Genetic Steroid Disorders;2023

3. 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;Hormones;2022-10-20

4. Congenital Adrenal Hyperplasia - The Main Effect of 21-Hydroxylase Deficiency;Adrenal Glands - The Current Stage and New Perspectives of Diseases and Treatment [Working Title];2022-09-23

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