The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase (Q28506480)

GOA release 2020-03-11

P. Denny

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author name string

X. Y. Liu

1

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24 January 2017

A. W. Dangel

2

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24 January 2017

R. I. Kelley

3

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24 January 2017

W. Zhao

4

1 reference

24 January 2017

M. Botcherby

6

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24 January 2017

B. Cattanach

7

1 reference

24 January 2017

J. Peters

8

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24 January 2017

P. R. Hunsicker

9

1 reference

24 January 2017

A. M. Mallon

10

1 reference

24 January 2017

M. A. Strivens

11

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24 January 2017

R. Bate

12

1 reference

24 January 2017

W. Miller

13

1 reference

24 January 2017

M. Rhodes

14

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24 January 2017

S. D. Brown

15

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24 January 2017

G. E. Herman

X-linked genetic homologies between mouse and man.

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24 January 2017

language of work or name

English

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publication date

1 June 1999

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24 January 2017

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24 January 2017

22

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24 January 2017

2

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24 January 2017

182–187

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24 January 2017

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7 January 2021

Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28

1 reference

7 January 2021

A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28

1 reference

7 January 2021

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

1 reference

7 January 2021

Refined mapping of caltractin in human Xq28 and in the homologous region of the mouse X chromosome places the gene within the bare patches (Bpa) and striated (Str) critical regions

1 reference

7 January 2021

Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)

1 reference

7 January 2021

The multiple murine 3 beta-hydroxysteroid dehydrogenase isoforms: structure, function, and tissue- and developmentally specific expression

1 reference

7 January 2021

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

1 reference

7 January 2021

Characterization of the Saccharomyces cerevisiae ERG26 gene encoding the C-3 sterol dehydrogenase (C-4 decarboxylase) involved in sterol biosynthesis

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7 January 2021

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7 January 2021

Disorders of cholesterol biosynthesis

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7 January 2021

Cholesterol metabolism and embryogenesis

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7 January 2021

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

7 January 2021

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

1 reference

7 January 2021

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

7 January 2021

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

7 January 2021

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

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7 January 2021

New players and puzzles in the Hedgehog signaling pathway

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7 January 2021

RFLVs in mottled dappled alleles

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7 January 2021

Long Human–Mouse Sequence Alignments Reveal Novel Regulatory Elements: A Reason to Sequence the Mouse Genome

1 reference

7 January 2021

Improved ligation-anchored PCR strategy for identification of 5' ends of transcripts

1 reference

7 January 2021

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

1 reference

7 January 2021