Molecular genetics of X-linked Charcot-Marie-Tooth disease (Q36507155)

14 August 2017

1 reference

title

Molecular genetics of X-linked Charcot-Marie-Tooth disease (English)

1 reference

14 August 2017

1 reference

Kleopas A Kleopa

1

1 reference

PubMed ID

16775370

14 August 2017

Steven S Scherer

series ordinal

2

1 reference

14 August 2017

1 January 2006

1 reference

14 August 2017

NeuroMolecular Medicine

1 reference

14 August 2017

8

1 reference

14 August 2017

1-2

1 reference

14 August 2017

107-122

1 reference

https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:107

14 August 2017

0 references

cites work

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Four classes of intercellular channels between glial cells in the CNS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Functional gap junctions in the schwann cell myelin sheath

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

An expression atlas of connexin genes in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked dominant hereditary motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

21 January 2018

Inherited neuropathies

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Severe neuropathy with leaky connexin32 hemichannels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Connexin29 and connexin32 at oligodendrocyte and astrocyte gap junctions and in myelin of the mouse central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

The human connexin32 gene is transcribed from two tissue-specific promoters

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Use of alternate promoters for tissue-specific expression of the gene coding for connexin32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

A new alternatively spliced transcript of the mouse connexin32 gene is expressed in embryonic stem cells, oocytes, and liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Tight junction contact events and temporary gap junctions in the sciatic nerve fibres of the chicken during Wallerian degeneration and subsequent regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Three-dimensional structure of a recombinant gap junction membrane channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Genetic diseases and gene knockouts reveal diverse connexin functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Structural and functional diversity of connexin genes in the mouse and human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Connexins and gap junctions of astrocytes and oligodendrocytes in the CNS

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A107

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene

21 January 2018

1 reference

12 December 2020

Connexins are critical for normal myelination in the CNS.

1 reference

12 December 2020

Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers

1 reference

12 December 2020

Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13

1 reference

12 December 2020

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

Clinical and pathological observations in men lacking the gap junction protein connexin 32

1 reference

12 December 2020

Altered connexin expression after peripheral nerve injury

1 reference

12 December 2020

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

1 reference

12 December 2020

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

1 reference

12 December 2020

Altered trafficking of mutant connexin32

1 reference

12 December 2020

Linkage in a family with X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations

1 reference

12 December 2020

Uneventful administration of cisplatin to a man with X-linked Charcot-Marie-Tooth disease (CMT)

1 reference

12 December 2020

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online

1 reference

12 December 2020

Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

1 reference

12 December 2020

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

1 reference

12 December 2020

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

12 December 2020

X-linked neuropathy: gene localization with DNA probes

1 reference

12 December 2020

A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female

1 reference

12 December 2020

A linkage study of the locus for X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

1 reference

12 December 2020

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.

1 reference

12 December 2020

Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease

1 reference

12 December 2020

A second alternative transcript of the gap junction gene connexin32 is expressed in murine Schwann cells and modulated in injured sciatic nerve

1 reference

12 December 2020

Linkage localization of X-linked Charcot-Marie-Tooth disease.

1 reference

12 December 2020

Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance

1 reference

12 December 2020

A family with Charcot-Marie-Tooth's disease, showing a probable X-linked incompletely dominant inheritance

1 reference

12 December 2020

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

1 reference

12 December 2020

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

1 reference

12 December 2020

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

1 reference

12 December 2020

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

1 reference

12 December 2020

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

1 reference

12 December 2020

Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family

1 reference

12 December 2020

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

1 reference

12 December 2020

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

1 reference

12 December 2020

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

12 December 2020

Relationships between genotype and phenotype in Charcot-Marie-Tooth disease

1 reference

12 December 2020

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

1 reference

12 December 2020

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

1 reference

12 December 2020

Familial jaw cysts in Charcot-Marie-Tooth disease

1 reference

12 December 2020

Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

1 reference

12 December 2020

X-linked dominant charcot-marie-tooth neuropathy with 15 cases in a family genetic linkage study

1 reference

12 December 2020

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations

1 reference

12 December 2020

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

1 reference

12 December 2020

X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability

1 reference

12 December 2020

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

1 reference

12 December 2020

Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Sox10, a novel transcriptional modulator in glial cells

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:107

1 reference

PubMed ID

16775370

Dimensions Publication ID

14 August 2017

0 references

1 reference

PubMed ID

16775370