GJB1 gene

Known as: GAP JUNCTION PROTEIN, 32-KD, Charcot-Marie-Tooth neuropathy, X-linked, GAP JUNCTION PROTEIN, BETA-1 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1997-2017
01219972017

Papers overview

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2017
2017
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap… (More)
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2017
2017
INTRODUCTION Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of… (More)
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2015
2015
Gap junction protein beta 1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth (CMTX) disease. We investigated a Chinese… (More)
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2014
2014
X-linked Charcot-Marie-Tooth type 1 (CMTX1) is the second most common type of CMT and is caused by mutations in the Gap-Junction… (More)
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2014
2014
INTRODUCTION Data regarding Charcot-Marie-Tooth disease is lacking in Southeast Asian populations. We investigated the frequency… (More)
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2014
2014
INTRODUCTION X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who… (More)
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2014
2014
Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked… (More)
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2013
2013
Mutations in the 5' non-coding region of GJB1 are rarely reported in patients with Charcot-Marie-Tooth disease (CMT). We… (More)
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2013
2013
Charcot-Marie-Tooth disease (CMT), which is the eponym for hereditary motor and sensory neuropathy (HMSN), affects ∼1 in 2500… (More)
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Review
1997
Review
1997
Soon after the description of Charcot-Marie-Tooth disease (CMT) in 1886, it became apparent that this syndrome is clinically and… (More)
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