Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome (Q34381684)

1 August 2017

title

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome (English)

1 reference

1 August 2017

1 reference

27

1 reference

1 August 2017

21

Guy A Rouleau

0 references

Tanya Nelson

12

object named as

Tanya N Nelson

1 reference

1 August 2017

Laura Arbour

29

0 references

Robert D. Steiner

object named as

Robert D Steiner

37

0 references

Michael Stratton

28

object named as

Michael R Stratton

1 reference

1 August 2017

16

Jacques L Michaud

1 reference

1 August 2017

24

Patrick S Tarpey

1 reference

1 August 2017

31

Margot I Van Allen

1 reference

1 August 2017

23

Raffaella Smith

1 reference

1 August 2017

Keith W McLarren

1

1 reference

1 August 2017

Tesa M Severson

2

1 reference

1 August 2017

Christèle du Souich

3

1 reference

1 August 2017

David W Stockton

4

1 reference

1 August 2017

Lisa E Kratz

5

1 reference

1 August 2017

David Cunningham

6

1 reference

1 August 2017

Glenda Hendson

7

1 reference

1 August 2017

Ryan D Morin

8

1 reference

1 August 2017

Diane Wu

9

1 reference

1 August 2017

Jessica E Paul

10

1 reference

1 August 2017

Jianghong An

11

1 reference

1 August 2017

Athena Chou

13

1 reference

1 August 2017

Andrea E DeBarber

14

1 reference

1 August 2017

Louise S Merkens

15

1 reference

1 August 2017

Paula J Waters

17

1 reference

1 August 2017

Jingyi Yin

18

1 reference

1 August 2017

Barbara McGillivray

19

1 reference

1 August 2017

Michelle Demos

20

1 reference

1 August 2017

Karl-Heinz Grzeschik

22

1 reference

1 August 2017

Debbie Shears

25

1 reference

1 August 2017

Charles E Schwartz

26

1 reference

1 August 2017

Jane Hurlburt

30

1 reference

1 August 2017

Gail E Herman

32

1 reference

1 August 2017

Yongjun Zhao

33

1 reference

1 August 2017

Richard Moore

34

1 reference

1 August 2017

Richard I Kelley

35

1 reference

1 August 2017

Steven J M Jones

36

1 reference

1 August 2017

F Lucy Raymond

38

1 reference

1 August 2017

Marco A Marra

39

1 reference

1 August 2017

Cornelius F Boerkoel

40

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 December 2010

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

87

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

905-914

1 reference

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

X-linked intellectual disability: unique vulnerability of the male genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

The genetic landscape of intellectual disability arising from chromosome X.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Protein structure homology modeling using SWISS-MODEL workspace.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

The diploid genome sequence of an Asian individual

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Accurate whole human genome sequencing using reversible terminator chemistry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

The complete genome of an individual by massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

The diploid genome sequence of an individual human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Mutational spectrum of NSDHL in CHILD syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Preputial gland tumor sterols. 3. A metabolic pathway from lanosterol to cholesterol

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Protein-protein interactions among C-4 demethylation enzymes involved in yeast sterol biosynthesis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

The Smith-Lemli-Opitz syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Allegro, a new computer program for multipoint linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

24S-Hydroxycholesterol: a Marker of Brain Cholesterol Metabolism

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Low cholesterol and violent crime

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Teratogen-mediated inhibition of target tissue response to Shh signaling

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Avoiding recomputation in linkage analysis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997364

Reference ranges of lipids and apolipoproteins in pregnancy

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21129721

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21129721

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.11.004

1 reference

1 August 2017

1 reference

1 August 2017

1 reference