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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.
Ghasemi A et al.
Molecular Syndromology, 2023
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
Mutations in cardiovascular connexin genes.
Molica F et al.
Biology of the Cell, 2014
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
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E et al.
Molecular Genetics and Metabolism, 2011
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 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
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg B et al.
American Journal of Human Genetics, 2004
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