Associated Papers
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
Turan I et al.
Clinical Endocrinology, 2018
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Combined sequence and sequence-structure-based methods for analyzing RAAS gene SNPs: a computational approach.
Singh KhD et al.
Journal of Receptor and Signal Transduction Research, 2014
Disorders of aldosterone synthesis, secretion, and cellular function.
Root AW
Current Opinion in Pediatrics, 2014
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
Kondo E et al.
Endocrine Journal, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
A particular phenotype in a girl with aldosterone synthase deficiency.
Williams TA et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
A compound heterozygote case of type II aldosterone synthase deficiency.
Dunlop FM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
Wasniewska M et al.
European Journal of Endocrinology, 2001
Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies.
Peter M et al.
Hormone Research, 1999
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II.
Peter M et al.
Hormone Research, 1998
Aldosterone secretion: a molecular perspective.
Boon WC et al.
Trends in Endocrinology and Metabolism: Tem, 1997
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