(Q40914971)

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Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency.

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31 October 2019

Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency (English)

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31 October 2019

molecular genetics

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3

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31 October 2019

6

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J Simard

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31 October 2019

author name string

Y Morel

1

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31 October 2019

F Mébarki

2

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31 October 2019

R Sanchez

4

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31 October 2019

M G Forest

5

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31 October 2019

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publication date

1 January 1997

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31 October 2019

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31 October 2019

62

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31 October 2019

1

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31 October 2019

176-184

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31 October 2019

An NADH-induced conformational change that mediates the sequential 3 beta-hydroxysteroid dehydrogenase/isomerase activities is supported by affinity labeling and the time-dependent activation of isomerase

1 reference

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Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads

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Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase

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Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase

1 reference

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Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1

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Genetic linkage mapping of HSD3B1 and HSD3B2 encoding human types I and II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase close to D1S514 and the centromeric D1Z5 locus

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The human 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene cluster on chromosome 1p13 contains a presumptive pseudogene; 3 beta-HSD and CYP17 do not segregate with dominantly inherited hirsutism

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Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency

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3&beta;-Hydroxysteroid Dehydrogenase Deficiency Follow-Up Study in a Girl with Pubertal Bone Age

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Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene

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Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency.

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Structure-function relationships and molecular genetics of the 3 beta-hydroxysteroid dehydrogenase gene family

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Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

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Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency

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Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency

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Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin

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Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from microsomes, substrate kinetics, and inhibition by product steroids

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7 January 2021

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Affinity labeling of human placental 3.beta.-hydroxy-.DELTA.5-steroid dehydrogenase and steroid .DELTA.-isomerase: evidence for bifunctional catalysis by a different conformation of the same protein for each enzyme activity

1 reference

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7 January 2021

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Evidence for distinct dehydrogenase and isomerase sites within a single 3.beta.-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase protein

1 reference

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Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

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Redesign of the coenzyme specificity of a dehydrogenase by protein engineering

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Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.

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The complete amino acid sequence of three alcohol dehydrogenase alleloenzymes (AdhN-11, AdhS and AdhUF) from the fruitfly Drosophila melanogaster

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Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency

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Structures important in mammalian 11 beta- and 17 beta-hydroxysteroid dehydrogenases.

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A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency

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Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Nonsalt-Losing Congenital Adrenal Hyperplasia due to 3β-Hydroxysteroid Dehydrogenase Deficiency with Normal Glomerulosa Function*

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Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity

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Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency

1 reference

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Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency

1 reference

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Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss

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Identifiers

10.1016/S0039-128X(96)00178-X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9029734%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

Europe PubMed Central

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31 October 2019

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