Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
about
Connexin46 mutations in autosomal dominant congenital cataract.Novel rab GAP-like protein, CIP85, interacts with connexin43 and induces its degradationA missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1qX-linked situs abnormalities result from mutations in ZIC3The effects of connexin phosphorylation on gap junctional communicationConnexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaA new locus for dominant "zonular pulverulent" cataract, on chromosome 13A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque developmentMolecular determinants of neural crest migrationDifferential expression of gap-junction gene connexin 31 in seminiferous epithelium of rat testesExome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.Myotonic dystrophy protein kinase expressed in rat cardiac muscle is associated with sarcoplasmic reticulum and gap junctions.Naturally Engineered Maturation of CardiomyocytesDefects in the determination of left-right asymmetry.Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.The cardiac muscle cell.Intramolecular interactions mediate pH regulation of connexin43 channelsPH regulation of connexin43: molecular analysis of the gating particleConnexin mutant embryonic stem cells and human diseasesCharacterization of the mitogen-activated protein kinase phosphorylation sites on the connexin-43 gap junction protein.Molecular bioelectricity: how endogenous voltage potentials control cell behavior and instruct pattern regulation in vivo.Hierarchical and cybernetic nature of biologic systems and their relevance to homeostatic adaptation to low-level exposures to oxidative stress-inducing agents.Sharing signals: connecting lung epithelial cells with gap junction channels.Both PKA and Epac pathways mediate N-acetylcysteine-induced Connexin43 preservation in rats with myocardial infarctionIvemark syndrome with agenesis of the corpus callosum: a case report with a review of the literature.Six innexins contribute to electrical coupling of C. elegans body-wall muscleGénie: literature-based gene prioritization at multi genomic scaleOn the role of the gap junction protein Cx43 (GJA1) in human cardiac malformations with Fallot-pathology. a study on paediatric cardiac specimen.A submicroscopic deletion in Xq26 associated with familial situs ambiguus.Temporal regulation of connexin phosphorylation in embryonic and adult tissues.Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse modelsRoles of gap junctions and hemichannels in bone cell functions and in signal transmission of mechanical stress.A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.Connexinopathies: a structural and functional glimpseBiological role of connexin intercellular channels and hemichannelsPhosphorylation of connexin43 on serine368 by protein kinase C regulates gap junctional communication.Replication of the Association of the 6q22.31c Locus near GJA1 with Pulse Rate in the Korean Population.Ser364 of connexin43 and the upregulation of gap junction assembly by cAMP.Electrical and mechanical stimulation of cardiac cells and tissue constructs.
P2860
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P2860
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations of the Connexin43 ga ...... ions and defects of laterality
@ast
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en-gb
Mutations of the Connexin43 ga ...... ions and defects of laterality
@nl
type
label
Mutations of the Connexin43 ga ...... ions and defects of laterality
@ast
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en-gb
Mutations of the Connexin43 ga ...... ions and defects of laterality
@nl
prefLabel
Mutations of the Connexin43 ga ...... ions and defects of laterality
@ast
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en-gb
Mutations of the Connexin43 ga ...... ions and defects of laterality
@nl
P2093
P3181
P1476
Mutations of the Connexin43 ga ...... ions and defects of laterality
@en
P2093
C W Zuppan
S H Britz-Cunningham
W H Fletcher
P304
P3181
P356
10.1056/NEJM199505183322002
P407
P577
1995-05-18T00:00:00Z