(Q33809286)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Fine mapping of the NRG1 Hirschsprung's disease locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

main subject

Hirschsprung's disease

1 reference

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Benjamin Hon Kei Yip

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Vincent C.H. Lui

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Yan Chen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Patrick H Y Chung

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Paul Kwong Hang Tam

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

8

Elly Sau-Wai Ngan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

7

Thomas Yuk-Yu Leon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

4

Xiao-Ping Miao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Kenneth Kak-Yuen Wong

15

object named as

Kenneth Kak-Yuen Wong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

16

Pak-Chung Sham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

2

Wai-Kiu Tang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

5

Brian Man-Chun Leung

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

11

Ivy Hau-Yee Chan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

13

Xue-Lai Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

Maria-Mercè Garcia-Barcelo

21 January 2020

19

object named as

Maria-Mercè Garcia-Barceló

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1

Clara Sze-Man Tang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

Man-Ting So

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Xuan-Zhao Wu

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

English

0 references

publication date

20 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

e16181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

21 January 2020

copyright license

start time

20 January 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Fine mapping of the 9q31 Hirschsprung's disease locus.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Neuregulin 1 in neural development, synaptic plasticity and schizophrenia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Hirschsprung disease, associated syndromes and genetics: a review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

PLINK: a tool set for whole-genome association and population-based linkage analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

The oncogene and developmental regulator EVI1: expression, biochemical properties, and biological functions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5' SNPs associated with the disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

P-Match: transcription factor binding site search by combining patterns and weight matrices

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

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

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

CLUSTAG: hierarchical clustering and graph methods for selecting tag SNPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

Correlation between genetic variations in Hox clusters and Hirschsprung's disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3024406

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

30 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0016181

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21283760

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0016181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21283760%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

PubMed publication ID

21283760

1 reference