(Q22010196)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

EBP cholestenol delta-isomerase

9 December 2019

main subject

1 reference

cholesterol metabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

6

H Glossmann

H

Glossmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

8

Rimoin DL

D L

Rimoin

1 reference

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9 December 2019

Braverman N

1

N

Braverman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Lin P

2

P

Lin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Moebius FF

3

F F

Moebius

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Obie C

4

C

Obie

1 reference

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9 December 2019

Moser A

5

A

Moser

1 reference

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9 December 2019

Wilcox WR

7

W R

Wilcox

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Smith M

9

M

Smith

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Kratz L

10

L

Kratz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Kelley RI

11

R I

Kelley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Valle D

12

D

Valle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

language of work or name

English

0 references

publication date

1 July 1999

1 reference

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9 December 2019

1 reference

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9 December 2019

volume

22

1 reference

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9 December 2019

issue

3

1 reference

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9 December 2019

page(s)

291-294

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

9 December 2019

cites work

1 reference

7 January 2021

X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males

1 reference

7 January 2021

XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)

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

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval

1 reference

7 January 2021

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

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

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

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization

1 reference

7 January 2021

Cloning and disruption of the yeast C-8 sterol isomerase gene

1 reference

7 January 2021

Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata

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

Clinical phenotype of desmosterolosis

1 reference

7 January 2021

Teratogen-mediated inhibition of target tissue response to Shh signaling

1 reference

7 January 2021

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

7 January 2021

Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene

1 reference

7 January 2021

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

1 reference

7 January 2021

Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein

1 reference

7 January 2021

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

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

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1 reference

7 January 2021

Identifiers

DOI

10.1038/10357

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10391219%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 December 2019

1033123640

0 references

1 reference