(Q35266382)

7 August 2017

title

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia (English)

1 reference

mandibulofacial dysostosis with alopecia

7 August 2017

main subject

0 references

Franceschetti–Klein syndrome

1 reference

29

1 reference

7 August 2017

22

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Stanislas Lyonnet

30

Stanislas Lyonnet

0 references

Patrik Ernfors

23

Patrik Ernfors

1 reference

7 August 2017

16

Patrick Nitschké

0 references

Christine Bôle-Feysot

15

Christine Bole-Feysot

0 references

Roseli Maria Zechi-Ceide

3

Roseli Maria Zechi-Ceide

1 reference

7 August 2017

Robert B Hufnagel

24

0 references

Christopher T Gordon

Christopher T Gordon

1

0 references

Didier Lacombe

Didier Lacombe

18

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Christelle Golzio

Christelle Golzio

31

0 references

Jeanne Amiel

Jeanne Amiel

Maria Leine Guion-Almeida

33

0 references

19

Maria Leine Guion-Almeida

1 reference

7 August 2017

13

Norine Voisin

1 reference

7 August 2017

8

Igor Adameyko

1 reference

7 August 2017

14

Cécile Masson

1 reference

7 August 2017

6

Myriam Oufadem

1 reference

7 August 2017

11

Sébastien Pierrot

1 reference

7 August 2017

17

Marie-Ange Delrue

1 reference

7 August 2017

K Nicole Weaver

2

1 reference

7 August 2017

Erik C Madsen

4

1 reference

7 August 2017

Andre L P Tavares

5

1 reference

7 August 2017

Yukiko Kurihara

7

1 reference

7 August 2017

Arnaud Picard

9

1 reference

7 August 2017

Sylvain Breton

10

1 reference

7 August 2017

Martin Biosse-Duplan

12

1 reference

7 August 2017

Patrick Nitschké

16

1 reference

7 August 2017

Priscila Padilha Moura

20

1 reference

7 August 2017

Daniela Gamba Garib

21

1 reference

7 August 2017

Robert J Hopkin

25

1 reference

7 August 2017

Hiroki Kurihara

26

1 reference

7 August 2017

Howard M Saal

27

1 reference

7 August 2017

David D Weaver

28

1 reference

7 August 2017

David E Clouthier

32

1 reference

7 August 2017

language of work or name

English

0 references

publication date

12 March 2015

1 reference

7 August 2017

number of pages

13

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

7 August 2017

volume

96

1 reference

7 August 2017

issue

4

1 reference

7 August 2017

page(s)

519-531

1 reference

describes a project that uses

7 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4385188/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

1 reference

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Evolution of endothelin receptors in vertebrates

27 July 2018

1 reference

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27 July 2018

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

27 July 2018

1 reference

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27 July 2018

1 reference

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27 July 2018

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1 reference

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NFIB is a governor of epithelial-melanocyte stem cell behaviour in a shared niche

27 July 2018

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

27 July 2018

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27 July 2018

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27 July 2018

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An endothelin-1 switch specifies maxillomandibular identity

27 July 2018

1 reference

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Dlx3 is a crucial regulator of hair follicle differentiation and cycling

27 July 2018

1 reference

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Morphing the hyomandibular skeleton in development and evolution

27 July 2018

1 reference

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The first inner loop of endothelin receptor type B is necessary for specific coupling to Galpha 13

27 July 2018

1 reference

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Potent and selective ET-A antagonists. 1. Syntheses and structure-activity relationships of N-(6-(2-(aryloxy)ethoxy)-4-pyrimidinyl)sulfonamide derivatives

27 July 2018

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The expression pattern of endothelin 3 in the avian embryo

27 July 2018

1 reference

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

27 July 2018

1 reference

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Sequence analysis, chromosomal location, and developmental expression of the mouse preproendothelin-1 gene

27 July 2018

1 reference

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Mutational analysis of the endothelin type A receptor (ETA): interactions and model of selective ETA antagonist BMS-182874 with putative ETA receptor binding cavity

27 July 2018

1 reference

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Mutation of peptide binding site in transmembrane region of a G protein-coupled receptor accounts for endothelin receptor subtype selectivity.

27 July 2018

1 reference

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

27 July 2018

1 reference

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Tyr-129 is important to the peptide ligand affinity and selectivity of human endothelin type A receptor

27 July 2018

1 reference

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Separable binding sites for the natural agonist endothelin-1 and the non-peptide antagonist bosentan on human endothelin-A receptors

27 July 2018

1 reference

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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

27 July 2018

1 reference

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Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

26 September 2018

1 reference

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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

A framework for variation discovery and genotyping using next-generation DNA sequencing data

26 September 2018

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Evolution of oropharyngeal patterning mechanisms involving Dlx and endothelins in vertebrates.

26 September 2018

1 reference

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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.

26 September 2018

1 reference

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Requirements for Endothelin type-A receptors and Endothelin-1 signaling in the facial ectoderm for the patterning of skeletogenic neural crest cells in zebrafish

26 September 2018

1 reference

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Johnson-McMillin syndrome: report of a new case with novel features.

26 September 2018

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26 September 2018

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Hypogonadotropic hypogonadism in a female with the Johnson-McMillin syndrome.

26 September 2018

1 reference

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

26 September 2018

1 reference

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Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

Mucosal T lymphocyte numbers are selectively reduced in integrin alpha E (CD103)-deficient mice.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

Ontogeny of endothelins-1 and -3, their receptors, and endothelin converting enzyme-1 in the early human embryo

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

Johnson-McMillin syndrome: report of another family

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4385188

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25772936

12 December 2020

inferred from PubMed ID database lookup

Restoration of the intrinsic properties of human dermal papilla in vitro

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25772936

12 December 2020

inferred from PubMed ID database lookup

Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25772936

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2015.01.015

1 reference

7 August 2017

1 reference

7 August 2017

1 reference