(Q34264758)

1 August 2017

title

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients (English)

1 reference

1 August 2017

Berta Luzón-Toro

1

1 reference

1 August 2017

Ana Torroglosa

2

1 reference

1 August 2017

Rocío Núñez-Torres

3

1 reference

1 August 2017

María Valle Enguix-Riego

4

1 reference

1 August 2017

Raquel María Fernández

5

1 reference

1 August 2017

Juan Carlos de Agustín

6

1 reference

1 August 2017

Guillermo Antiñolo

7

1 reference

1 August 2017

Salud Borrego

8

1 reference

1 August 2017

language of work or name

English

0 references

publication date

4 May 2012

1 reference

1 August 2017

1 reference

1 August 2017

volume

7

1 reference

1 August 2017

issue

5

1 reference

1 August 2017

page(s)

e36524

1 reference

Creative Commons Attribution 4.0 International

1 August 2017

copyright license

start time

4 May 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Fine mapping of the NRG1 Hirschsprung's disease locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Hirschsprung disease, associated syndromes and genetics: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

The neuregulin-I/ErbB signaling system in development and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Neuregulins: functions, forms, and signaling strategies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Neuregulin 1 and susceptibility to schizophrenia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

The transcription factor Sox10 is a key regulator of peripheral glial 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=3344894

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Sensory and motor neuron-derived factor is a transmembrane heregulin that is expressed on the plasma membrane with the active domain exposed to the extracellular environment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Domain-specific gene disruption reveals critical regulation of neuregulin signaling by its cytoplasmic tail

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Neuregulins and their receptors: a versatile signaling module in organogenesis and oncogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

A hierarchical network of interreceptor interactions determines signal transduction by Neu differentiation factor/neuregulin and epidermal growth factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Distinct isoforms of neuregulin are expressed in mesenchymal and neuronal cells during mouse 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=3344894

Neural expression and chromosomal mapping of Neu differentiation factor to 8p12-p21

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

The cellular response to neuregulins is governed by complex interactions of the erbB receptor family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Structural and functional aspects of the multiplicity of Neu differentiation factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Expression of the c-erbB-3 protein in normal human adult and fetal tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Identification of heregulin, a specific activator of p185erbB2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Studies on the structure and function of glycosylated and nonglycosylated neu differentiation factors. Similarities and differences of the alpha and beta isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Protein translocation: tunnel vision

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Release of the neuregulin functional polypeptide requires its cytoplasmic tail.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Mutations in the NRG1 gene are associated with Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Mapping of a Hirschsprung's disease locus in 3p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Colonic Epithelial Expression of ErbB2 Is Required for Postnatal Maintenance of the Enteric Nervous System

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0036524

Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3344894

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22574178

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Forced transmembrane orientation of hydrophilic polypeptide segments in multispanning membrane proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22574178

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22574178

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0036524

1 reference

1 August 2017

0 references

1 reference

1 August 2017

1 reference