Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com (Q28115860)

steroid delta-isomerase activity

GOA release 2020-03-11

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Phenylalkylamine Ca2+ antagonist (emopamil) binding protein

GOA release 2020-03-11

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GOA release 2020-03-11

author name string

J. M. Derry

1

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4 January 2017

E. Gormally

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4 January 2017

G. D. Means

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4 January 2017

W. Zhao

4

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4 January 2017

A. Meindl

5

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4 January 2017

R. I. Kelley

6

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4 January 2017

Y. Boyd

7

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4 January 2017

G. E. Herman

The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization

8

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4 January 2017

language of work or name

English

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publication date

1 July 1999

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4 January 2017

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4 January 2017

22

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4 January 2017

3

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4 January 2017

286–290

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4 January 2017

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7 January 2021

Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho).

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7 January 2021

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

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7 January 2021

Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation.

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7 January 2021

Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast

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7 January 2021

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

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7 January 2021

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

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7 January 2021

Antiproliferative effects of SR31747A in animal cell lines are mediated by inhibition of cholesterol biosynthesis at the sterol isomerase step

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7 January 2021

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

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7 January 2021

Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning

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7 January 2021

Current understanding of the molecular actions of vitamin D.

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7 January 2021

Cholesterol modification of hedgehog signaling proteins in animal development

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7 January 2021

Cholesterol metabolism and embryogenesis

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7 January 2021

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation

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7 January 2021

Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome

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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

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7 January 2021

The isolation of cDNAs from OATL1 at Xp 11.2 using a 480-kb YAC.

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7 January 2021

RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain

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7 January 2021