Disease: Deafness nonsyndromic- Connexin 26 linked
- A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
- A novel connexin 26 compound heterozygous mutation results in deafness
- A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels
- A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect
- Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis
- Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations
- Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
- Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree
- Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
- Biological functions of connexin genes revealed by human genetic defects, dominant negative approaches and targeted deletions in the mouse
- Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness
- Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness
- Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population
- Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians
- Connexin 26 mutations in autosomal recessive deafness disorders: a review
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
- Connexin 30 deletion exacerbates cochlear senescence and age-related hearing loss
- Connexin-26 mutations in deafness and skin disease
- Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea
- Connexins 30 and 43 expression changes in relation to age-related hearing loss
- Deficiency of transcription factor Brn4 disrupts cochlear gap junction plaques in a model of DFN3 non-syndromic deafness
- DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
- Diversity and molecular anatomy of gap junctions
- Dominant modifier DFNM1 suppresses recessive deafness DFNB26
- Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions
- Epigenetics--a new perspective for the study of deafness
- Exploring the clinical and epidemiological complexity of GJB2-linked deafness
- Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness
- Functional studies reveal new mechanisms for deafness caused by connexin mutations
- Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice
- Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions
- Genetic causes of hearing loss
- Genetic causes of nonsyndromic hearing loss
- Genetics of deafness in India
- Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss
- Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania
- Hereditary hearing impairment. Mutation analysis of connexin 26 and POU3F4 genes in Icelanders with nonsyndromic hearing impairment.
- Hereditary hearing loss and deafness genes in Japan
- Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
- Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families
- Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
- Molecular study of patients with auditory neuropathy
- Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies
- Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
- Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
- Non-syndromic hereditary hearing impairment
- Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations
- Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel
- Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree
- Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene
- Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice
- Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
- Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss
- Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family
- Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness
- Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation
- Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
- Study of a mutation in connexin 26 gene associated with congenital sensorineural deafness
- Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families
- The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome
- The role of connexins in ear and skin physiology - functional insights from disease-associated mutations
- The role of connexins in human disease
- The Segregation of p.Arg68Ter-<em>CLDN14</em> Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the <em>GJB2</em> Gene
- TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families
- Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations
- Unique expression of connexins in the human cochlea