Skip to search formSkip to main contentSkip to account menu

GJC2 gene

Known as: CONNEXIN 46.6, SPG44, GAP JUNCTION PROTEIN, 47-KD 
National Institutes of Health

Related topics

Related topics

1 relation
GJB3 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
2016
2016
Identification of GJC2 gene mutations in chinese patients with Pelizaeus-Merzbacher-like disease.
BACKGROUND Clinical and genetic features were analyzed in five pedigrees with Pelizaeus-Merzbacher-like disease (PMLD) to provide… 
2016
2016
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].
2016
2016
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease (CMT1X) is a common form of inherited neuropathy resulting from different mutations… 
2010
2010
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus–Merzbacher-like disease
2010
2010
GJA12 遺伝子変異をみとめず，新規の白質ジストロフィーがうたがわれた1例
症例は50歳女性である．3歳頃に歩行障害で発症し，眼振，小脳失調，痙性麻痺などが緩徐に進行し，頭部MRIで髄鞘低形成と思われる所見をみとめた白質ジストロフィーの1… 
2010
2010
Interruption of SOX10 function in myelinopathies
Tremendous progress in our understanding of myelin development, function, and maintenance has come from insights provided by… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)