Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita (Q28115991)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

case report

0 references

title

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

Adhesion G protein-coupled receptor G6

15 February 2020

main subject

1 reference

GOA release 2020-03-11

myelination

1 reference

GOA release 2020-03-11

author

Flora Nolent

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jérôme Maluenda

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Nigel G Laing

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

15

Richard J Allcock

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

20

Judith Melki

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Gianina Ravenscroft

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Sulekha Rajagopalan

3

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Dominique Gaillard

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Elisabeth Alanio

7

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Michael Buckland

8

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Susan Arbuckle

9

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Michael Krivanek

10

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Stephen Pannell

12

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Rebecca Gooding

13

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Fernando Kok

18

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ana M Meireles

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Kevin J Paavola

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Royston W Ong

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ellaine D F Carvalho

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Maria D F Carvalho

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

William S Talbot

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

language of work or name

English

0 references

publication date

21 May 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

15 February 2020

published in

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

96

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

955-961

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Gpr126 is essential for peripheral nerve development and myelination in mammals

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Gpr126 functions in Schwann cells to control differentiation and myelination via G-protein activation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

A tethered agonist within the ectodomain activates the adhesion G protein-coupled receptors GPR126 and GPR133

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Type IV collagen is an activating ligand for the adhesion G protein-coupled receptor GPR126

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Sticky signaling--adhesion class G protein-coupled receptors take the stage

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

A G protein-coupled receptor is essential for Schwann cells to initiate myelination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Mapping of adenylyl cyclase genes type I, II, III, IV, V, and VI in mouse

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Integrative genomics viewer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Glial cell development and function in zebrafish

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Analysis of Gpr126 function defines distinct mechanisms controlling the initiation and maturation of myelin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Arthrogryposis and fetal hypomobility syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Genome-wide association study of height and body mass index in Australian twin families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457946

Genetic aspects of arthrogryposis

2 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26004201

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of GPR126 gene polymorphism with adolescent idiopathic scoliosis in Chinese populations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26004201

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.04.014

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26004201%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

2 references