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
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
An Updated Classification of Primary Lymphedema Based on Age of Onset, Lymphatic Anomalies, and Genetics.
Liu NF et al.
Lymphology, 2023
Abnormal lymphatic phenotype in a CRISPR mouse model of the human lymphedema-causing Connexin47 R260C point mutation.
Mustacich DJ et al.
Lymphology, 2021
Human venous valve disease caused by mutations in FOXC2 and GJC2.
Lyons O et al.
The Journal of Experimental Medicine, 2017
28724617 (PubMed )
Supplement: JEM_20160875_sm.pdf
Cx47 fine-tunes the handling of serum lipids but is dispensable for lymphatic vascular function.
Meens MJ et al.
Plos One, 2017
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A et al.
Molecular Syndromology, 2013
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
GJC2 missense mutations cause human lymphedema.
Ferrell RE et al.
American Journal of Human Genetics, 2010
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