Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 2017
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Key functions for gap junctions in skin and hearing.
Scott CA et al.
The Biochemical Journal, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Rouan F et al.
Journal of Cell Science, 2001
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
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