Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review-Reference-Cited by-同舟云学术

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Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review

Published:2019-10 Issue: Volume:150 Page:108448
ISSN:0039-128X
Container-title:Steroids
language:en
Short-container-title:Steroids

Author:

Miao Hui^ORCID,Yu Zhongxun,Lu Lin,Zhu Huijuan,Auchus Richard J.^ORCID,Liu Jiayan,Jiang Jun,Pan Hui,Gong Fengying,Chen Shi,Lu Zhaolin

Funder

The National Key Research and Development Program of China

CAMS Innovation Fund for Medical Science

Publisher

Elsevier BV

Subject

Organic Chemistry,Clinical Biochemistry,Pharmacology,Endocrinology,Molecular Biology,Biochemistry

Reference54 articles.

1. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex;Curnow;Mol. Endocrinol. (Baltimore, Md).,1991

2. Disorders of steroid 11 beta-hydroxylase isozymes;White;Endocr. Rev.,1994

3. Disorders of aldosterone biosynthesis and action;White;N. Engl. J. Med.,1994

4. Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta);Mornet;J. Biol. Chem.,1989

5. Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway;Ulick;J. Clin. Endocrinol. Metab.,1976

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1. Aldosterone synthase deficiency associated with a CYP11B2 variant of uncertain significance: Case report and literature review;Journal of Clinical and Translational Endocrinology: Case Reports;2024-06

2. Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis;Molecular Diagnosis & Therapy;2024-02-07

3. Severe Aldosterone Synthase Deficiency in a 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in <i>CYP11B2</i>;Hormone Research in Paediatrics;2024-02-05

4. Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2;Archives de Pédiatrie;2024-02

5. Screening of Novel Candidate Compounds for the Treatment of Primary Aldosteronism;2024

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