(Q28115860)

4 January 2017

title

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

1 reference

EBP cholestenol delta-isomerase

4 January 2017

main subject

1 reference

steroid delta-isomerase activity

GOA release 2020-03-11

1 reference

Phenylalkylamine Ca2+ antagonist (emopamil) binding protein

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

J. M. Derry

1

1 reference

4 January 2017

E. Gormally

2

1 reference

4 January 2017

G. D. Means

3

1 reference

4 January 2017

W. Zhao

4

1 reference

4 January 2017

A. Meindl

5

1 reference

4 January 2017

R. I. Kelley

6

1 reference

4 January 2017

Y. Boyd

7

1 reference

4 January 2017

G. E. Herman

8

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 July 1999

1 reference

4 January 2017

1 reference

4 January 2017

volume

22

1 reference

4 January 2017

issue

3

1 reference

4 January 2017

page(s)

286–290

1 reference

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

4 January 2017

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

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

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

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Current understanding of the molecular actions of vitamin D.

1 reference

7 January 2021

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

7 January 2021

Cholesterol metabolism and embryogenesis

1 reference

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

1 reference

7 January 2021

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

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

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

1 reference

4 January 2017

1 reference