(Q36772356)

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Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

scientific article published on 21 March 2016

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26998835%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes (English)

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12 March 2020

Smith-Lemli-Opitz syndrome

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Ian Martin Williams

7

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12 March 2020

William J Pavan

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12 March 2020

Heiner Westphal

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Heiner Westphal

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12 March 2020

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Kevin R Francis

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12 March 2020

Amy N Ton

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12 March 2020

Yao Xin

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12 March 2020

Peter E O'Halloran

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12 March 2020

Christopher A Wassif

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12 March 2020

Nasir Malik

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12 March 2020

Celine V Cluzeau

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12 March 2020

Niraj S Trivedi

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12 March 2020

Wonhwa Cho

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12 March 2020

Forbes D Porter

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12 March 2020

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21 March 2016

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12 March 2020

Nature Medicine

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12 March 2020

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12 March 2020

4

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12 March 2020

388-396

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12 March 2020

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4823163/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

https://scigraph.springernature.com/pub.10.1038/nm.4067

0 references

CRISPR-mediated direct mutation of cancer genes in the mouse liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Cholesterol selectively activates canonical Wnt signalling over non-canonical Wnt signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

The WNT receptor FZD7 is required for maintenance of the pluripotent state in human embryonic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Genome engineering using the CRISPR-Cas9 system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Multiplex genome engineering using CRISPR/Cas systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Cholesterol modulates cell signaling and protein networking by specifically interacting with PDZ domain-containing scaffold proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Endogenous Wnt signalling in human embryonic stem cells generates an equilibrium of distinct lineage-specified progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Wnt signaling regulates neuronal differentiation of cortical intermediate progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Malformation syndromes caused by disorders of cholesterol synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Beta-catenin signaling negatively regulates intermediate progenitor population numbers in the developing cortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

5A apolipoprotein mimetic peptide promotes cholesterol efflux and reduces atherosclerosis in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Lipid rafts as a membrane-organizing principle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Emerging roles of Wnts in the adult nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Generation of human induced pluripotent stem cells from dermal fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Neurosteroid regulation of central nervous system development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Use of cyclodextrins to manipulate plasma membrane cholesterol content: evidence, misconceptions and control strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Derivation of human embryonic stem cells in defined conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Wnt signalling regulates adult hippocampal neurogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

In vivo analysis of quiescent adult neural stem cells responding to Sonic hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Fluorescence imaging for monitoring the colocalization of two single molecules in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Maintenance of pluripotency in human and mouse embryonic stem cells through activation of Wnt signaling by a pharmacological GSK-3-specific inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Mesd encodes an LRP5/6 chaperone essential for specification of mouse embryonic polarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Regulation of cerebral cortical size by control of cell cycle exit in neural precursors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Membrane binding assays for peripheral proteins.

1 reference

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29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

29 September 2017

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo

1 reference

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29 September 2017

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

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29 September 2017

Membrane lipid composition and cellular function

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29 September 2017

Mechanism of cataract production by 3-β(2-diethylaminoethoxy) androst-5-en-17-one hydrochloride, U18666A: An inhibitor of cholesterol biosynthesis

1 reference

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29 September 2017

Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

27 June 2018

Activation mechanisms of conventional protein kinase C isoforms are determined by the ligand affinity and conformational flexibility of their C1 domains

1 reference

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27 June 2018

Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

5 September 2018

Wnt/beta-catenin pathway activation and myogenic differentiation are induced by cholesterol depletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

5 September 2018

The Wnt/beta-catenin pathway directs neuronal differentiation of cortical neural precursor cells

1 reference

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5 September 2018

Roles of calcium ions in the membrane binding of C2 domains.

1 reference

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5 September 2018

Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function

1 reference

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5 September 2018

Differential roles of ionic, aliphatic, and aromatic residues in membrane-protein interactions: a surface plasmon resonance study on phospholipases A2.

1 reference

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5 September 2018

Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.

1 reference

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5 September 2018

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4823163

20 October 2018

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

https://pubmed.ncbi.nlm.nih.gov/26998835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved method for preparing G-banded chromosomes from mouse peripheral blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/26998835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol for synthesis of myelin is made locally, not imported into brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/26998835

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/NM.4067

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26998835%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PMC publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26998835%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26998835%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

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