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

N. Bondurand

doi:10.1093/hmg/10.24.2783

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

Human Molecular Genetics ◽

10.1093/hmg/10.24.2783 ◽

2001 ◽

Vol 10 (24) ◽

pp. 2783-2795 ◽

Cited By ~ 140

Author(s):

N. Bondurand

Keyword(s):

Transcription Factor ◽

Gap Junction ◽

Connexin 32 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease

Acta Neurologica Scandinavica ◽

10.1034/j.1600-0404.2003.01317.x ◽

2003 ◽

Vol 107 (1) ◽

pp. 31-37 ◽

Cited By ~ 31

Author(s):

H. Takashima ◽

M. Nakagawa ◽

F. Umehara ◽

K. Hirata ◽

M. Suehara ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Gap Junction ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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Mutation Analysis of Gap Junction Protein Beta 1 and Genotype–Phenotype Correlation in X-linked Charcot–Marie–Tooth Disease in Chinese Patients

Chinese Medical Journal ◽

10.4103/0366-6999.180511 ◽

2016 ◽

Vol 129 (9) ◽

pp. 1011-1016 ◽

Cited By ~ 8

Author(s):

Bo Sun ◽

Zhao-Hui Chen ◽

Li Ling ◽

Yi-Fan Li ◽

Li-Zhi Liu ◽

...

Keyword(s):

Gap Junction ◽

Mutation Analysis ◽

Chinese Patients ◽

Phenotype Correlation ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Genotype Phenotype Correlation ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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The Role of the Gap Junction Protein Connexin32 in the Pathogenesis of X-Linked Charcot-Marie-Tooth Disease

Novartis Foundation Symposium 219 - Gap Junction-Mediated Intercellular Signalling in Health and Disease - Novartis Foundation Symposia ◽

10.1002/9780470515587.ch11 ◽

2007 ◽

pp. 175-187 ◽

Cited By ~ 1

Author(s):

Steven S. Scherer ◽

Linda Jo Bone ◽

Suzanne M. Deschênes ◽

Annette Abel ◽

Rita J. Balice-Gordon ◽

...

Keyword(s):

Gap Junction ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1 ) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease

Muscle & Nerve ◽

10.1002/mus.24343 ◽

2014 ◽

Vol 50 (6) ◽

pp. 1023-1024 ◽

Cited By ~ 5

Author(s):

Merveen Appu ◽

Soe Mar

Keyword(s):

Gap Junction ◽

Pathogenic Mutation ◽

Neurological Deficits ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report

BMC Neurology ◽

10.1186/s12883-014-0156-5 ◽

2014 ◽

Vol 14 (1) ◽

Cited By ~ 11

Author(s):

Yuan Zhao ◽

Yanchen Xie ◽

Xiaoquan Zhu ◽

Huigang Wang ◽

Yao Li ◽

...

Keyword(s):

Case Report ◽

White Matter ◽

Gap Junction ◽

Novel Mutation ◽

White Matter Lesions ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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A novel mutation of gap junction protein beta 1 gene in x-linked charcot-marie-tooth disease

Muscle & Nerve ◽

10.1002/mus.21992 ◽

2011 ◽

Vol 43 (6) ◽

pp. 887-892 ◽

Cited By ~ 6

Author(s):

Sheng Dong Chen ◽

Zheng Xi Li ◽

Yang Tai Guan ◽

Xia Jun Zhou ◽

Jian Ming Jiang ◽

...

Keyword(s):

Gap Junction ◽

Novel Mutation ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Junction Protein ◽

Gap Junction Protein ◽

Tooth Disease

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

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.261713499 ◽

2002 ◽

Vol 99 (6) ◽

pp. 3980-3984 ◽

Cited By ~ 57

Author(s):

C. K. Abrams ◽

M. V. L. Bennett ◽

V. K. Verselis ◽

T. A. Bargiello

Keyword(s):

Gap Junction ◽

Connexin 32 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Gap Junction Hemichannels ◽

Tooth Disease

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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

Brain Research ◽

10.1016/s0006-8993(00)03327-8 ◽

2001 ◽

Vol 900 (1) ◽

pp. 9-25 ◽

Cited By ~ 51

Author(s):

Charles K. Abrams ◽

Mona M. Freidin ◽

Vytas K. Verselis ◽

Michael V.L. Bennett ◽

Thaddeus A. Bargiello

Keyword(s):

Gap Junction ◽

Pathogenic Mechanism ◽

Connexin 32 ◽

Loss Of Function ◽

Charcot Marie Tooth ◽

Gap Junction Channels ◽

Charcot Marie Tooth Disease ◽

Mutant Forms ◽

Tooth Disease

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Voltage Opens Unopposed Gap Junction Hemichannels Formed By A Connexin 32 Mutant Associated With X-Linked Charcot-Marie-Tooth Disease

Journal of the Peripheral Nervous System ◽

10.1046/j.1529-8027.2002.02026_14.x ◽

2002 ◽

Vol 7 (3) ◽

pp. 209-209

Author(s):

CK Abrams ◽

MVL Bennett ◽

VK Verselis ◽

TA. Bargiello

Keyword(s):

Gap Junction ◽

Connexin 32 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Gap Junction Hemichannels ◽

Tooth Disease

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MUTATIONS IN CONNEXIN 32: THE MOLECULAR AND BIOPHYSICAL BASES FOR THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE

Journal of the Peripheral Nervous System ◽

10.1046/j.1529-8027.2000.00022-41.x ◽

2000 ◽

Vol 5 (4) ◽

pp. 246-247

Author(s):

Ck Abrams ◽

S Oh ◽

Y Ri ◽

Ta Bargiello

Keyword(s):

Connexin 32 ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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