(Q27330447)

26571399

26 June 2017

title

A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease (English)

1 reference

26 June 2017

1 reference

neural crest cell migration involved in autonomic nervous system development

1 reference

Fibronectin 1

1 reference

Collagen, type VI, alpha 4

1 reference

Hirschsprung's disease

1 reference

inferred from title

author

Karl-Frederik Bergeron

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Christophe Faure

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Rodolphe Soret

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mathilde Mennetrey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Anne Dariel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Michel Neunlist

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Franziska Grunder

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Nicolas Pilon

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

David W Silversides

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ente-Hirsch Study Group

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

English

0 references

publication date

16 November 2015

1 reference

26571399

Journal of Clinical Investigation

26 June 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

4483-4496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

7 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4665793/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Male-biased aganglionic megacolon in the TashT mouse line due to perturbation of silencer elements in a large gene desert of chromosome 10

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Remodelling the extracellular matrix in development and disease

21 March 2017

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Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

21 March 2017

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Enteric nervous system development: migration, differentiation, and disease

21 March 2017

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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

21 March 2017

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DSCAM functions as a netrin receptor in commissural axon pathfinding

21 March 2017

1 reference

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

21 March 2017

1 reference

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Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

21 March 2017

1 reference

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Mutations of the RET proto-oncogene in Hirschsprung's disease

21 March 2017

1 reference

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Topological domains in mammalian genomes identified by analysis of chromatin interactions

21 March 2017

1 reference

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Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen

21 March 2017

1 reference

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Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI

21 March 2017

1 reference

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A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16

21 March 2017

1 reference

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Spatial partitioning of the regulatory landscape of the X-inactivation centre

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

7 April 2017

1 reference

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Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

CTCF establishes discrete functional chromatin domains at the Hox clusters during differentiation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Extracellular matrix assembly: a multiscale deconstruction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Annexin A2 mediates secretion of collagen VI, pulmonary elasticity and apoptosis of bronchial epithelial cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Pathways systematically associated to Hirschsprung's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis.

28 September 2017

1 reference

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The expanded collagen VI family: new chains and new questions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy

28 September 2017

1 reference

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Development and developmental disorders of the enteric nervous system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Building a brain in the gut: development of the enteric nervous system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

The developmental genetics of Hirschsprung's disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Trans-mesenteric neural crest cells are the principal source of the colonic enteric nervous system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

The enteric nervous system and neurogastroenterology.

28 September 2017

1 reference

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Overview of the matrisome--an inventory of extracellular matrix constituents and functions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

The collagen VI-related myopathies: muscle meets its matrix

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Gdnf is mitogenic, neurotrophic, and chemoattractive to enteric neural crest cells in the embryonic colon

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Structural variation in the human genome and its role in disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

The extracellular matrix in development and morphogenesis: a dynamic view

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Hirschsprung disease, associated syndromes and genetics: a review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Genomic rearrangements and sporadic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Neural crest and the development of the enteric nervous system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Acetylcholinesterase in Hirschsprung's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Dual function of Slit2 in repulsion and enhanced migration of trunk, but not vagal, neural crest cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

A gene expression map of human chromosome 21 orthologues in the mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

A new twist in the collagen story--the type VI segmented supercoil

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

GDNF is a chemoattractant for enteric neural cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Evaluation of tyrosinase minigene co-injection as a marker for genetic manipulations in transgenic mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Enteric neural crest-derived cells promote their migration by modifying their microenvironment through tenascin-C production

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Collagen VI is a basement membrane component that regulates epithelial cell-fibronectin interactions

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Animal models for studying neural crest development: is the mouse different?

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Neural stem cell therapies for enteric nervous system disorders

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Differential and restricted expression of novel collagen VI chains in mouse.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Novel pre- and post-gastrulation expression of Gata4 within cells of the inner cell mass and migratory neural crest cells.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Three novel collagen VI chains with high homology to the alpha3 chain

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Structure and function of primitive immunoglobulin superfamily neural cell adhesion molecules: a lesson from studies on planarian.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Lack of 1 integrins in enteric neural crest cells leads to a Hirschsprung-like phenotype

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4665793

A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung's disease

27 November 2018

1 reference

12 December 2020

Collagen type VI in neural crest development: Distribution in situ and interaction with cells in vitro

1 reference

12 December 2020

Extracellular matrix and adhesive molecules in the early development of the gut and its innervation in normal and spotting lethal rat embryos

1 reference

12 December 2020

Collagen type VI gene expression in the skin of trisomy 21 fetuses

1 reference

12 December 2020

Beta1 integrins are required for the invasion of the caecum and proximal hindgut by enteric neural crest cells

1 reference

12 December 2020

L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI83178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

7 June 2020

3752513

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3752513

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26571399%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

26571399

1 reference