Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
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Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutantsGap junctions in inherited human disorders of the central nervous system.Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.Connexins and Pannexins: New Insights into Microglial Functions and DysfunctionsCx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defectsAxonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.A new mutation in GJC2 associated with subclinical leukodystrophy.Connexinopathies: a structural and functional glimpseHow do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese PatientsExome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.A Review of X-linked Charcot-Marie-Tooth Disease.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.What's the Function of Connexin 32 in the Peripheral Nervous System?
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P2860
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
@en
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
@nl
type
label
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
@en
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
@nl
prefLabel
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
@en
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
@nl
P2093
P1433
P1476
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
@en
P2093
Christodoulou K
Georgiou DM
Hadjisavvas A
Kyriakides T
Zamba-Papanicolaou E
P304
P356
10.1212/01.WNL.0000196479.93722.59
P407
P577
2006-02-01T00:00:00Z