(Q37369042)

20 August 2017

0 references

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears (English)

1 reference

auriculocondylar syndrome

20 August 2017

1 reference

19

Stanislas Lyonnet

0 references

Patrick Nitschké

12

Patrick Nitschké

0 references

Christine Bôle-Feysot

7

Christine Bole-Feysot

0 references

Roseli Maria Zechi-Ceide

5

Roseli Maria Zechi-Ceide

1 reference

Nancy Mizue Kokitsu-Nakata

20 August 2017

10

Frédéric Tores

0 references

Nancy Mizue Kokitsu-Nakata

16

0 references

Christopher T Gordon

Christopher T Gordon

1

0 references

Florence Petit

Florence Petit

2

0 references

Jeanne Amiel

Jeanne Amiel

21

0 references

Arnold Munnich

18

Arnold Munnich

1 reference

Maria Leine Guion-Almeida

20 August 2017

15

Maria Leine Guion-Almeida

1 reference

Siulan Vendramini-Pittoli

20 August 2017

17

Siulan Vendramini-Pittoli

1 reference

20 August 2017

3

Peter M Kroisel

1 reference

20 August 2017

9

Cécile Masson

1 reference

20 August 2017

6

Myriam Oufadem

1 reference

20 August 2017

4

Linda Jakobsen

1 reference

20 August 2017

8

Solenn Pruvost

1 reference

20 August 2017

13

Pernille Lindholm

1 reference

20 August 2017

14

Philippe Pellerin

1 reference

20 August 2017

Muriel Holder-Espinasse

20

Muriel Holder-Espinasse

1 reference

20 August 2017

Frédéric Tores

10

1 reference

20 August 2017

Thierry Hieu

11

1 reference

20 August 2017

Patrick Nitschké

12

1 reference

20 August 2017

language of work or name

English

0 references

publication date

21 November 2013

1 reference

American Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

93

1 reference

20 August 2017

6

1 reference

20 August 2017

1118-1125

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

20 August 2017

1 reference

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Spatio-temporal dynamics of gene expression of the Edn1-Dlx5/6 pathway during development of the lower jaw

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Review and update of mutations causing Waardenburg syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

The Sequence Alignment/Map format and SAMtools

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

An endothelin-1 switch specifies maxillomandibular identity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Endothelin-A receptor-dependent and -independent signaling pathways in establishing mandibular identity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Endothelin-1 regulates the dorsoventral branchial arch patterning in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Furin at the cutting edge: from protein traffic to embryogenesis and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Furin: a mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Amino acid difference formula to help explain protein evolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

A novel potent vasoconstrictor peptide produced by vascular endothelial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Human furin is a calcium-dependent serine endoprotease that recognizes the sequence Arg-X-X-Arg and efficiently cleaves anthrax toxin protective antigen

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Sequence specificity of furin, a proprotein-processing endoprotease, for the hemagglutinin of a virulent avian influenza virus.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

phospholipase C, beta 3 is required for Endothelin1 regulation of pharyngeal arch patterning in zebrafish

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Cranial neural crest cells on the move: their roles in craniofacial development.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Recombinase-mediated cassette exchange reveals the selective use of Gq/G11-dependent and -independent endothelin 1/endothelin type A receptor signaling in pharyngeal arch development.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

sucker encodes a zebrafish Endothelin-1 required for ventral pharyngeal arch development

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853412

Identification of amino acid residues in the C-terminal tail of big endothelin-1 involved in processing to endothelin-1

3 December 2018

1 reference

12 December 2020

A Heterozygous Frameshift Mutation in the Endothelin-3 (EDN-3) Gene in Isolated Hirschsprung's Disease

1 reference

12 December 2020

Quantitative characterization of furin specificity. Energetics of substrate discrimination using an internally consistent set of hexapeptidyl methylcoumarinamides

1 reference

12 December 2020

Syndromes of the first and second pharyngeal arches: A review

1 reference

12 December 2020

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

1 reference

12 December 2020

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV

1 reference

12 December 2020

Auriculo-condylar syndrome: additional patients

1 reference

12 December 2020

Purification and characterization of furin, a Kex2-like processing endoprotease, produced in Chinese hamster ovary cells

1 reference

12 December 2020

Alanine scan of endothelin: Importance of aromatic residues

1 reference

12 December 2020

10.1016/J.AJHG.2013.10.023

Identifiers

DOI

1 reference

release_rjngdvanqfatzepqto4f2t4erq

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rjngdvanqfatzepqto4f2t4erq

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

PubMed publication ID

24268655

1 reference