(Q34720641)

4 August 2017

title

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease (English)

1 reference

4 August 2017

1 reference

11

0 references

Stanislas Lyonnet

16

Stanislas Lyonnet

0 references

Robert Hofstra

10

Robert M W Hofstra

1 reference

Françoise Clerget-Darpoux

4 August 2017

14

Françoise Clerget-Darpoux

0 references

Anne-Sophie Jannot

Anne-Sophie Jannot

1

0 references

Nadège Bondurand

Nadège Bondurand

12

0 references

Jeanne Amiel

Jeanne Amiel

15

0 references

Isabella Ceccherini

Isabella Ceccherini

8

0 references

Damien Sanlaville

Damien Sanlaville

7

0 references

Anastella Pelet

2

Anna Pelet

1 reference

4 August 2017

author name string

Alexandra Henrion-Caude

3

1 reference

4 August 2017

Asma Chaoui

4

1 reference

4 August 2017

Marine Masse-Morel

5

1 reference

4 August 2017

Stacey Arnold

6

1 reference

4 August 2017

Salud Borrego

9

1 reference

4 August 2017

Aravinda Chakravarti

13

1 reference

4 August 2017

language of work or name

English

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publication date

6 May 2013

1 reference

4 August 2017

1 reference

4 August 2017

volume

8

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4 August 2017

issue

5

1 reference

4 August 2017

page(s)

e62519

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Creative Commons Attribution 4.0 International

4 August 2017

copyright license

start time

6 May 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

SNP and gene networks construction and analysis from classification of copy number variations data

7 July 2018

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Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

L1cam acts as a modifier gene during enteric nervous system development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Developmental determinants of the independence and complexity of the enteric nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

DSCAM functions as a netrin receptor in commissural axon pathfinding

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Smarter clustering methods for SNP genotype calling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

DSCAM is a netrin receptor that collaborates with DCC in mediating turning responses to netrin-1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Hirschsprung disease, associated syndromes and genetics: a review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Selective hormone-dependent repression of estrogen receptor beta by a p38-activated ErbB2/ErbB3 pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Netrins and DCC in the guidance of migrating neural crest-derived cells in the developing bowel and pancreas

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Segregation at three loci explains familial and population risk in Hirschsprung disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Protein zero gene expression is regulated by the glial transcription factor Sox10

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

The ErbB2 and ErbB3 receptors and their ligand, neuregulin-1, are essential for development of the sympathetic nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3646051

Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Genomic variation in multigenic traits: Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

A trisomic transmission disequilibrium test

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Immunolocalization of estrogen receptor alpha and beta in gastric epithelium and enteric neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

The cell adhesion molecule l1 is required for chain migration of neural crest cells in the developing mouse gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Mutations in the NRG1 gene are associated with Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0062519

Integrating case-control and TDT studies

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23671607

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0062519

1 reference

4 August 2017

0 references

1 reference

4 August 2017

1 reference