about
Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerveAnalysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked diseaseCoupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout mice.Differential expression of gap junction proteins connexin26, 32, and 43 in normal and crush-injured rat sciatic nerves. Close relationship between connexin43 and occludin in the perineurium.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.X-linked Charcot-Marie-Tooth disease and connexin32.Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomainThe role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyMolecular basis of calcium regulation in connexin-32 hemichannelsDifferent consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Connexin29 and connexin32 at oligodendrocyte and astrocyte gap junctions and in myelin of the mouse central nervous system.Functional gap junctions in the schwann cell myelin sheath.Rapid and direct effects of pH on connexins revealed by the connexin46 hemichannel preparationIdentification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel SequencingImproving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysisExtracellular domains play different roles in gap junction formation and docking compatibility.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Role of gamma carboxylated Glu47 in connexin 26 hemichannel regulation by extracellular Ca²⁺: insight from a local quantum chemistry study.Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencingAsparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26.Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.Cellular mechanisms of connexin32 mutations associated with CNS manifestations.Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory-Motor Neuropathies: 12 cases.Permeant-specific gating of connexin 30 hemichannels.Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.Mouse models of myelin diseases.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.Gap junctional communication and connexin expression in cultured olfactory ensheathing cells.Genetic epidemiology of Charcot-Marie-Tooth disease.X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Connexin32 and X-linked Charcot-Marie-Tooth disease
@ast
Connexin32 and X-linked Charcot-Marie-Tooth disease
@en
Connexin32 and X-linked Charcot-Marie-Tooth disease
@nl
type
label
Connexin32 and X-linked Charcot-Marie-Tooth disease
@ast
Connexin32 and X-linked Charcot-Marie-Tooth disease
@en
Connexin32 and X-linked Charcot-Marie-Tooth disease
@nl
prefLabel
Connexin32 and X-linked Charcot-Marie-Tooth disease
@ast
Connexin32 and X-linked Charcot-Marie-Tooth disease
@en
Connexin32 and X-linked Charcot-Marie-Tooth disease
@nl
P2093
P3181
P356
P1476
Connexin32 and X-linked Charcot-Marie-Tooth disease
@en
P2093
K H Fischbeck
R J Balice-Gordon
S M Deschênes
S S Scherer
P304
P3181
P356
10.1006/NBDI.1997.0152
P407
P577
1997-01-01T00:00:00Z