Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease (Q28943464)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

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

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

genome-wide association study

20 January 2020

main subject

0 references

susceptibility locus

1 reference

inferred from title

Hirschsprung's disease

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Vincent C.H. Lui

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Yan Chen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Kenneth M Cheung

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Stacey S. Cherny

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Paul Kwong Hang Tam

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

18

You-Qiang Song

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

Maria-Mercè Garcia-Barcelo

20 January 2020

1

object named as

Maria-Mercè Garcia-Barcelo

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

3

Elly Sau-Wai Ngan

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

7

Thomas Yuk-Yu Leon

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

8

Xiao-Ping Miao

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

11

Ming-Yiu Yeung

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

13

Wei-Hong Guo

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

15

Xiao-Bing Sun

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

17

Jin-Fa Tou

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Kenneth Kak-Yuen Wong

21

object named as

Kenneth Kak-Yuen Wong

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

23

Pak-Chung Sham

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Man-Ting So

6

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Cathy Ka-Yee Shum

9

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Feng-Qin Liu

10

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Zhen-Wei Yuan

12

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Lei Liu

14

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Liu-Ming Huang

16

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Danny Chan

19

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

English

0 references

publication date

5 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

20 January 2020

published in

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

106

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

8

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

2694-2699

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

20 January 2020

genome-wide association study

1 reference

Genome-wide detection and characterization of positive selection in human populations

inferred from title

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

A second generation human haplotype map of over 3.1 million SNPs

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Principal components analysis corrects for stratification in genome-wide association studies

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Haploview: analysis and visualization of LD and haplotype maps

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Sox10, a novel transcriptional modulator in glial cells

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

A new multipoint method for genome-wide association studies by imputation of genotypes

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Whole-genome patterns of common DNA variation in three human populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Hirschsprung disease, associated syndromes and genetics: a review

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Neuregulins: functions, forms, and signaling strategies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Enteric nervous system: development and developmental disturbances--part 2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

The transcription factor Sox10 is a key regulator of peripheral glial development.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

III. Role Of the RET signal transduction pathway in development of the mammalian enteric nervous system.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

An extended transmission/disequilibrium test (TDT) for multi-allele marker loci.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

Expression of the HER-2/neu proto-oncogene in normal human adult and fetal tissues

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650328

RET-deficient mice: an animal model for Hirschsprung's disease and renal agenesis.

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0809630105

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/10.1073%2FPNAS.0809630105

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0809630105

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0809630105

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/10.1073%2FPNAS.0809630105

Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0809630105

Genome-wide analysis of transcript isoform variation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0809630105

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/10.1073%2FPNAS.0809630105

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=2650328

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

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19196962

12 December 2020

inferred from PubMed ID database lookup

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19196962

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.0809630105

2 references

14 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19196962%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

2 references

14 March 2017