The genetic and functional basis of isolated 17,20-lyase deficiency
about
Cytochromes P450: a success storyA missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiencyControl of androgen biosynthesis in the human through the interaction of Arg347 and Arg358 of CYP17 with cytochrome b5Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersThe syndrome of 17,20 lyase deficiencyWhy boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiationMutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndromeStructural insights into the function of steroidogenic cytochrome P450 17A1The molecular basis of isolated 17,20 lyase deficiencyRegulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17Deletion of the mouse P450c17 gene causes early embryonic lethalityGenome-wide association study identifies eight loci associated with blood pressureCongenital adrenal hyperplasia: from genetics and biochemistry to clinical practice, Part 1.Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.Human cytochrome p450c17: single step purification and phosphorylation of serine 258 by protein kinase a.Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.Blood pressure and human genetic variation in the general population.Familial partial 17,20-desmolase and 17alpha-hydroxylase deficiency presenting as infertility.Intra-adrenal regulation of androgen synthesis.Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer.Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome.Catalytically relevant electrostatic interactions of cytochrome P450c17 (CYP17A1) and cytochrome b5.Regulation of human 3β-hydroxysteroid dehydrogenase type 2 by adrenal corticosteroids and product-feedback by androstenedione in human adrenarche.High-yield expression of a catalytically active membrane-bound protein: human P450 oxidoreductase.CYB5A polymorphism increases androgens and reduces risk of rheumatoid arthritis in women.SH2B3 (LNK) as a novel link of immune signaling, inflammation, and hypertension in Dahl salt-sensitive hypertensive rats.Clinical and molecular review of atypical congenital adrenal hyperplasiaThe next 150 years of congenital adrenal hyperplasia.A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.Consequences of POR mutations and polymorphisms.P450 oxidoreductase deficiency: a new disorder of steroidogenesis.Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency.Cytochromes P450--a family of proteins and scientists-understanding their relationships.Human cytochromes P450 in health and diseaseThe action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65.Impaired 17,20-Lyase Activity in Male Mice Lacking Cytochrome b5 in Leydig Cells.Substrate-modulated cytochrome P450 17A1 and cytochrome b5 interactions revealed by NMR.
P2860
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P2860
The genetic and functional basis of isolated 17,20-lyase deficiency
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The genetic and functional basis of isolated 17,20-lyase deficiency
@ast
The genetic and functional basis of isolated 17,20-lyase deficiency
@en
The genetic and functional basis of isolated 17,20-lyase deficiency
@en-gb
The genetic and functional basis of isolated 17,20-lyase deficiency
@nl
type
label
The genetic and functional basis of isolated 17,20-lyase deficiency
@ast
The genetic and functional basis of isolated 17,20-lyase deficiency
@en
The genetic and functional basis of isolated 17,20-lyase deficiency
@en-gb
The genetic and functional basis of isolated 17,20-lyase deficiency
@nl
prefLabel
The genetic and functional basis of isolated 17,20-lyase deficiency
@ast
The genetic and functional basis of isolated 17,20-lyase deficiency
@en
The genetic and functional basis of isolated 17,20-lyase deficiency
@en-gb
The genetic and functional basis of isolated 17,20-lyase deficiency
@nl
P2093
P2860
P356
P1433
P1476
The genetic and functional basis of isolated 17,20-lyase deficiency
@en
P2093
D H Geller
R J Auchus
W L Miller
P2860
P2888
P304
P356
10.1038/NG1097-201
P407
P577
1997-10-01T00:00:00Z
P6179
1003217230