Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability (Q33960467)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Paul Kwong Hang Tam

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Isabella Ceccherini

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Anastella Pelet

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Anne-Sophie Jannot

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Loic de Pontual

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Stanislas Lyonnet

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Robert Hofstra

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Eileen Sproat Emison

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Merce Garcia-Barcelo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Elizabeth A Grice

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Francesca Lantieri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Grzegorz Burzynski

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Raquel M Fernandez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Li Hao

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Carl Kashuk

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Kristen West

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Xiaoping Miao

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Paola Griseri

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Alexandra Henrion-Caude

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Joke B G M Verheij

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Guillermo Antiñolo

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Salud Borrego

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Andrew S McCallion

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Aravinda Chakravarti

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

1 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

60-74

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

Copy number variation in human health, disease, and evolution

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Genetic mapping in human 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=2896767

Basal laminar drusen caused by compound heterozygous variants in the CFH gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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=2896767

The Genetic Basis of Truncate Wing,-an Inconstant and Modifiable Character in Drosophila.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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=2896767

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=2896767

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=2896767

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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=2896767

Are rare variants responsible for susceptibility to complex diseases?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

A New Statistical Method for Haplotype Reconstruction from Population Data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Protein zero gene expression is regulated by the glial transcription factor Sox10

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Ultraviolet light induces redox reaction-mediated dimerization and superactivation of oncogenic Ret tyrosine kinases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Association of RET protooncogene codon 45 polymorphism with 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=2896767

The DNA-binding specificity of SOX9 and other SOX proteins.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Identification of two Sox17 messenger RNA isoforms, with and without the high mobility group box region, and their differential expression in mouse spermatogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Definition of a consensus DNA binding site for SRY.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

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=2896767

Point mutations affecting the tyrosine kinase domain 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=2896767

Mutation and cancer: statistical study of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

A genetic study of 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=2896767

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Cell proliferation drives neural crest cell invasion of the intestine.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Loss of function effect of RET mutations causing Hirschsprung disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896767

Genetics of common disorders

29 October 2018

1 reference

12 December 2020

GOLD--graphical overview of linkage disequilibrium

1 reference

12 December 2020

The new genomics: global views of biology

1 reference

12 December 2020

A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

1 reference

12 December 2020

10.1016/J.AJHG.2010.06.007

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20598273%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

20598273

1 reference