(Q29147396)

4 April 2017

title

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state (English)

1 reference

Endothelin receptor type B

4 April 2017

main subject

1 reference

endothelin receptor signaling pathway

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nadège Bondurand

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Veronique Pingault

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

8

Natalie Loundon

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

9

Laurence Jonard

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

13

Sandrine Marlin

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

7

Naima Deggouj

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Emmanuelle Faubert

3

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sylvain Poisson

4

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Laure Lecerf

5

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Patrick Nitschke

6

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Albert David

10

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Yves Sznajer

11

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Patricia Blanchet

12

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

24 February 2017

1 reference

4 April 2017

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

581-593

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

13 June 2020

cites work

1 reference

Phorbol ester-inducible genes contain a common cis element recognized by a TPA-modulated trans-acting factor

21 April 2017

1 reference

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

21 April 2017

1 reference

21 April 2017

1 reference

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 April 2017

1 reference

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

21 April 2017

1 reference

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

21 April 2017

1 reference

Analysis of protein-coding genetic variation in 60,706 humans

21 April 2017

1 reference

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 April 2017

1 reference

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

21 April 2017

1 reference

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

21 April 2017

1 reference

21 April 2017

1 reference

SLUG (SNAI2) deletions in patients with Waardenburg disease

21 April 2017

1 reference

Activation mechanism of endothelin ETB receptor by endothelin-1

21 April 2017

1 reference

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 April 2017

1 reference

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

21 April 2017

1 reference

Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients

21 April 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Maintenance of mammalian enteric nervous system progenitors by SOX10 and endothelin 3 signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Icy: an open bioimage informatics platform for extended reproducible research.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Endothelin-3 stimulates cell adhesion and cooperates with β1-integrins during enteric nervous system ontogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Building a brain in the gut: development of the enteric nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Reporter-gene systems for the study of G-protein-coupled receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Endothelin receptor signaling: new insight into its regulatory mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Endothelins stimulate c-fos and nerve growth factor expression in astrocytes and astrocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Endothelin receptor B is required for the expansion of melanocyte precursors and malignant melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Review and update of mutations causing Waardenburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Roles of endothelin signaling in melanocyte development and melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

Regulation and intracellular trafficking pathways of the endothelin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

inferred from DOI database lookup

7 January 2021

based on heuristic

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23206

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28236341%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

2 references

4 April 2017