Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Item
http://www.wikidata.org/entity/Q28115991
MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to LearnRecent advances in prenatal genetic screening and testingBiallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyComprehensive analysis of the numbers, lengths and amino acid compositions of transmembrane helices in prokaryotic, eukaryotic and viral integral membrane proteins of high-resolution structure.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The scales and tales of myelination: using zebrafish and mouse to study myelinating gliaEvaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.G Protein-Coupled Receptors in Myelinating Glia.The Relevance of Genomic Signatures at Adhesion GPCR Loci in Humans.Adhesion GPCRs as Novel Actors in Neural and Glial Cell Functions: From Synaptogenesis to Myelination.Adhesion G-protein coupled receptors and extracellular matrix proteins: Roles in myelination and glial cell development.Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Item
http://www.wikidata.org/entity/Q28115991
description
2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2015
@ast
im Mai 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2015/06/04)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/06/04)
@nl
наукова стаття, опублікована в червні 2015
@uk
مقالة علمية (نشرت في 4-6-2015)
@ar
name
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@ast
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@en
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@nl
type
label
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@ast
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@en
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@nl
prefLabel
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@ast
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@en
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@nl
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P2093
P2860
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P50
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P921
P932
P3181
P356
P1433
P1476
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
@en
P2093
P2860
P304
P31
P3181
P356
10.1016/J.AJHG.2015.04.014
P407
P433
P478
P50
P577
P698
P921
P932