Associated Papers
GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis.
Rietmann SJ et al.
Animal Genetics, 2026
Correction to "GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis".
Unknown Author
Animal Genetics, 2026
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Abrams CK et al.
Scientific Reports, 2017
Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.
Pavithra A et al.
Annals of Human Genetics, 2015
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.
Pang X et al.
Plos One, 2014
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
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
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Yuan Y et al.
Journal of Translational Medicine, 2009
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Nemoto-Hasebe I et al.
The British Journal of Dermatology, 2009
Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
Sargiannidou I et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
Alexandrino F et al.
American Journal of Medical Genetics. Part A, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Molecular genetics study of deafness in Brazil: 8-year experience.
de Oliveira CA et al.
American Journal of Medical Genetics. Part A, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.
Minarik G et al.
Clinical Genetics, 2005
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
Taylor RA et al.
Neurology, 2003
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
Marziano NK et al.
Human Molecular Genetics, 2003
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Janecke AR et al.
Human Genetics, 2002
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
[Hereditary hearing loss due to mutations in the connexin-26 gene].
Weigell-Weber M et al.
Schweizerische Medizinische Wochenschrift, 2000
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES et al.
American Journal of Medical Genetics, 1999
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
Richard G et al.
Human Genetics, 1998
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30.
Forge A et al.
Cell Communication & Adhesion, 0
Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.
Felix F et al.
Brazilian Journal of Otorhinolaryngology, 0