(Q34381684)

1 August 2017

title

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

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1 August 2017

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27

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21

Guy A Rouleau

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Tanya Nelson

12

object named as

Tanya N Nelson

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1 August 2017

Laura Arbour

29

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Robert D. Steiner

object named as

Robert D Steiner

37

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Michael Stratton

28

object named as

Michael R Stratton

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16

Jacques L Michaud

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24

Patrick S Tarpey

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Margot I Van Allen

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23

Raffaella Smith

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Keith W McLarren

1

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Tesa M Severson

2

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Christèle du Souich

3

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David W Stockton

4

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Lisa E Kratz

5

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David Cunningham

6

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Glenda Hendson

7

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Ryan D Morin

8

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Diane Wu

9

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Jessica E Paul

10

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Jianghong An

11

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Athena Chou

13

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Andrea E DeBarber

14

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Louise S Merkens

15

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Paula J Waters

17

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Jingyi Yin

18

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Barbara McGillivray

19

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Michelle Demos

20

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Karl-Heinz Grzeschik

22

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Debbie Shears

25

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Charles E Schwartz

26

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Jane Hurlburt

30

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Gail E Herman

32

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Yongjun Zhao

33

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Richard Moore

34

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Richard I Kelley

35

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Steven J M Jones

36

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F Lucy Raymond

38

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Marco A Marra

39

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Cornelius F Boerkoel

40

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1 August 2017

language of work or name

English

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publication date

1 December 2010

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

87

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1 August 2017

issue

6

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1 August 2017

page(s)

905-914

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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