(Q34103539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Clara Sze-Man Tang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Patrick H Y Chung

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

Maria-Mercè Garcia-Barcelo

18 January 2020

29

object named as

Maria-Mercè Garcia-Barcelo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

9

Elly Sau-Wai Ngan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

2

Thomas Yuk-Yu Leon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

5

Xiao-Ping Miao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Kenneth Kak-Yuen Wong

25

object named as

Kenneth Kak-Yuen Wong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

26

Pak-Chung Sham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

21

Ivy Hau-Yee Chan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

23

Xue-Lai Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

19

Juncheng Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

6

Belinda K Cornes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

28

Paul Kwong-Hang Tam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

24

Ruizhong Zhang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

13

Hualong Wang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1

Man-Ting So

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Guo Cheng

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Ngoc Ngo Diem

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Long Cui

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Vincent Chai-Hang Lui

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Xuan-Zhao Wu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Bin Wang

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Zheng-Wei Yuan

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Liu-Ming Huang

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Long Li

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Huimin Xia

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Deli Zhu

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Thanh Liem Nguyen

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

9 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

e28986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

18 January 2020

copyright license

start time

9 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Understanding the contribution of synonymous mutations to human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Rare variants create synthetic genome-wide associations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Cataloging coding sequence variations in human genome databases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Hirschsprung disease, associated syndromes and genetics: a review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Identification and classification of conserved RNA secondary structures in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

The RET receptor: function in development and dysfunction in congenital malformation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Functional analysis of RET with Hirschsprung mutations affecting its kinase domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235168

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

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028986

Rate4Site: an algorithmic tool for the identification of functional regions in proteins by surface mapping of evolutionary determinants within their homologues.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028986

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22174939

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22174939

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Frequency of RET mutations in long- and short-segment Hirschsprung disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22174939

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0028986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22174939%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

22174939

1 reference