(Q30416401)

11 August 2017

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

1 reference

auriculocondylar syndrome

11 August 2017

1 reference

10

Stanislas Lyonnet

0 references

Jeanne Amiel

11

object named as

Jeanne Amiel

1 reference

11 August 2017

Christopher T Gordon

5

0 references

Deborah A Nickerson

15

object named as

Deborah A Nickerson

1 reference

11 August 2017

Mark J Rieder

1

1 reference

11 August 2017

Glenn E Green

2

1 reference

11 August 2017

Sarah S Park

3

1 reference

11 August 2017

Brendan D Stamper

4

1 reference

11 August 2017

Jason M Johnson

6

1 reference

11 August 2017

Christopher M Cunniff

7

1 reference

11 August 2017

Joshua D Smith

8

1 reference

11 August 2017

Sarah B Emery

9

1 reference

11 August 2017

Muriel Holder

12

1 reference

11 August 2017

Andrew A Heggie

13

1 reference

11 August 2017

Michael J Bamshad

14

1 reference

11 August 2017

Timothy C Cox

16

1 reference

11 August 2017

Anne V Hing

17

1 reference

11 August 2017

Jeremy A Horst

18

1 reference

11 August 2017

Michael L Cunningham

19

1 reference

11 August 2017

language of work or name

English

0 references

publication date

1 May 2012

1 reference

American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

90

1 reference

11 August 2017

907-914

1 reference

11 August 2017

5

1 reference

Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Exome sequencing identifies the cause of a mendelian disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Structural Determinants of G-protein Subunit Selectivity by Regulator of G-protein Signaling 2 (RGS2)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Structural diversity in the RGS domain and its interaction with heterotrimeric G protein -subunits

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

The Rap-RapGAP complex: GTP hydrolysis without catalytic glutamine and arginine residues

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Scoring functions for de novo protein structure prediction revisited.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

CASTp: computed atlas of surface topography of proteins with structural and topographical mapping of functionally annotated residues

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Distribution and intensity of constraint in mammalian genomic sequence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

UCSF Chimera--a visualization system for exploratory research and analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Endothelin-1 regulates the dorsoventral branchial arch patterning in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Specification of jaw subdivisions by Dlx genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

G-protein-coupled receptors and signaling networks: emerging paradigms.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

A novel phospholipase C delta4 (PLCdelta4) splice variant as a negative regulator of PLC.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Phospholipase cbeta4 is specifically involved in climbing fiber synapse elimination in the developing cerebellum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Phospholipase C beta 4 is involved in modulating the visual response in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Combined bilateral external ear deformity and hypoplastic mandible. Case report

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Regulation of facial morphogenesis by endothelin signaling: insights from mice and fish.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Serotonin 2B receptor signaling is required for craniofacial morphogenesis and jaw joint formation in Xenopus

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Autosomal dominant isolated question mark ear

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Zebrafish furin mutants reveal intricacies in regulating Endothelin1 signaling in craniofacial patterning

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

The correction of auricular and mandibular deformities in auriculo-condylar syndrome.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Galphaq and Galpha11 proteins mediate endothelin-1 signaling in neural crest-derived pharyngeal arch mesenchyme.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Endothelin 1-mediated regulation of pharyngeal bone development in zebrafish

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Transmission of the dysgnathia complex from mother to daughter

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

New syndrome? Prominent, constricted ears with malformed condyle of the mandible.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376493

Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications

26 November 2018

1 reference

12 December 2020

Auriculo-condylar syndrome. Confronting a diagnostic challenge

1 reference

12 December 2020

Question mark ears and post-auricular tags

1 reference

12 December 2020

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

1 reference

12 December 2020

Auriculo-condylar syndrome: further evidence for a new disorder

1 reference

12 December 2020

Auriculo-condylar syndrome: additional patients

1 reference

12 December 2020

10.1016/J.AJHG.2012.04.002

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

1 reference