Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A et al.
Molecular Syndromology, 2023
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Abrams CK
Biomolecules, 2023
Cx47 fine-tunes the handling of serum lipids but is dispensable for lymphatic vascular function.
Meens MJ et al.
Plos One, 2017
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.
Fasciani I et al.
Neuropharmacology, 2013
The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
Kim MS et al.
The Biochemical Journal, 2013
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
Biancheri R et al.
European Journal of Human Genetics : Ejhg, 2013
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
Finegold DN et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E et al.
Molecular Genetics and Metabolism, 2011
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P et al.
Journal of Medical Genetics, 2011
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Diekmann S et al.
European Journal of Human Genetics : Ejhg, 2010
GJC2 missense mutations cause human lymphedema.
Ferrell RE et al.
American Journal of Human Genetics, 2010
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