Associated Papers
Computing pathogenicity of mutations in human cytochrome P450 superfamily.
Mondal S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
Clinical analysis of salt-wasting in infants due to genetic aetiology.
Xie Y et al.
Endokrynologia Polska, 2024
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
Merakou C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Spatially restricted substrate-binding site of cortisol-synthesizing CYP11B1 limits multiple hydroxylations and hinders aldosterone synthesis.
Mukai K et al.
Current Research in Structural Biology, 2021
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.
Miao H et al.
Steroids, 2019
The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme's genetic background.
Neunzig J et al.
Endocrine Journal, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
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
[Functional analysis of +11G > A single nucleotide polymorphisms in intron 3 of human urate transporter 1 gene].
Lu J et al.
Zhonghua Nei Ke Za Zhi, 2014
Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene.
Jia M et al.
Plos One, 2014
A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene.
Taranta A et al.
Gene, 2012
Fission yeast Schizosaccharomyces pombe as a new system for the investigation of corticosterone methyloxidase deficiency-causing mutations.
Tin MK et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2011
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene.
Leshinsky-Silver E et al.
Hormone Research, 2006
Aldosterone synthase deficiency and related disorders.
White PC
Molecular and Cellular Endocrinology, 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
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
Nomoto S et al.
Biochemical and Biophysical Research Communications, 1997
Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.
Zhang G et al.
American Journal of Human Genetics, 1995
Genetic disorders of steroid hormone synthesis and metabolism.
New MI et al.
Bailliere's Clinical Endocrinology and Metabolism, 1995
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
Curnow KM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
Pascoe L et al.
Proceedings of the National Academy of Sciences of the United States of America, 1992
A Japanese girl with aldosterone synthase deficiency requiring fludrocortisone until 10 years of age.
Koyama S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0