(Q36338193)

13 August 2017

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

1 reference

auriculocondylar syndrome

13 August 2017

1 reference

16

Stanislas Lyonnet

0 references

Nancy Mizue Kokitsu-Nakata

Nancy Mizue Kokitsu-Nakata

4

0 references

Christopher T Gordon

Christopher T Gordon

2

0 references

Tatiana Teixeira Torres

Tatiana T Torres

11

0 references

Jeanne Amiel

Jeanne Amiel

17

0 references

Tiong Y Tan

Tiong Y Tan

6

0 references

Maria Rita Passos-Bueno

18

Maria Rita Passos-Bueno

1 reference

13 August 2017

Maria Leine Guion-Almeida

15

Maria L Guion-Almeida

1 reference

Siulan Vendramini-Pittoli

13 August 2017

8

Siulan Vendramini-Pittoli

1 reference

13 August 2017

Roseli Maria Zechi-Ceide

3

Roseli M Zechi-Ceide

1 reference

13 August 2017

5

Norine Voisin

1 reference

Vanessa L Romanelli Tavares

13 August 2017

1

Vanessa L Romanelli Tavares

1 reference

13 August 2017

13

Luciane Portas Capelo

1 reference

13 August 2017

10

Blake C Papsin

1 reference

13 August 2017

Andrew A Heggie

7

1 reference

13 August 2017

Evan J Propst

9

1 reference

13 August 2017

Henk Buermans

12

1 reference

13 August 2017

Johan T den Dunnen

14

1 reference

13 August 2017

16 July 2014

1 reference

European Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

23

1 reference

13 August 2017

4

1 reference

13 August 2017

481-485

1 reference

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

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Development of the mammalian axial skeleton requires signaling through the Gα(i) subfamily of heterotrimeric G proteins.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Mechanisms of dominant negative G-protein alpha subunits.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

The Ras superfamily at a glance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Human RAS superfamily proteins and related GTPases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Mutations of the ras gene product p21 that abolish guanine nucleotide binding

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Primary cilium migration depends on G-protein signalling control of subapical cytoskeleton.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Transmission of the dysgnathia complex from mother to daughter

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Suppression of pancreatic cancer by the dominant negative ras mutant, N116Y.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4666574

Auriculo-condylar syndrome: additional patients

22 September 2018

1 reference

12 December 2020

Heterotrimeric G proteins containing G alpha i3 regulate multiple effector enzymes in the same cell. Activation of phospholipases C and A2 and inhibition of adenylyl cyclase

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. Confronting a diagnostic challenge

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.132

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

25026904

1 reference