Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
about
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8Structural insights into aldosterone synthase substrate specificity and targeted inhibitionGlucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersUnderlying hydrophobic sequence periodicity of protein tertiary structure.Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 geneBlood pressure and human genetic variation in the general population.Genetics of hypertension: from experimental animals to humans.Aldosterone postnatally, but not at birth, is required for optimal induction of renal mineralocorticoid receptor expression and sodium reabsorption.The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 geneGlucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree.Aldosterone-independent regulation of the epithelial Na+ channel (ENaC) by vasopressin in adrenalectomized mice.Links between dietary salt intake, renal salt handling, blood pressure, and cardiovascular diseases.Molecular genetics of the stress-responsive adrenocortical axis.Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.Defects of steroidogenesis.Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.Pathophysiology, diagnosis, and treatment of mineralocorticoid disorders.High Frequency of Variants of Candidate Genes in Black Africans with Low Renin-Resistant Hypertension.Congenital hypoaldosteronism: the Visser-Cost syndrome revisited.Does primary salt wasting occur in 11-beta-hydroxylase deficiency?Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II deficiency.Genetic screening in the Persian Jewish community: A pilot study.Four is not more than two.Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.Erythrocyte Na+,K+-ATPase and nasal potential in pseudohypoaldosteronism.Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism.Genetic determination of plasma aldosterone levels in essential hypertension.Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.Neglected issues concerning teaching human adrenal steroidogenesis in popular biochemistry textbooks.Defective CYP11B1 does not oxidise 11DCORTDefective CYP11B2 does not oxidise 11DCORSTDefective CYP11B2 does not oxidise 18HCORSTDefective CYP11B2 does not oxidise CORSTCombined sequence and sequence-structure-based methods for analyzing RAAS gene SNPs: a computational approach.Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomicsClassical pathway of steroidogenesis, including diseases
P2860
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P2860
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@ast
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@en
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@nl
type
label
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@ast
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@en
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@nl
prefLabel
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@ast
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@en
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@nl
P2093
P2860
P356
P1476
Mutations in the human CYP11B2 ...... ne methyloxidase II deficiency
@en
P2093
P2860
P304
P356
10.1073/PNAS.89.11.4996
P407
P577
1992-06-01T00:00:00Z