Pages that link to "Q48045551"
Jump to navigation
Jump to search
The following pages link to Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans (Q48045551):
Displaying 50 items.
- Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice (Q21092155) (← links)
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis (Q22008478) (← links)
- A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness (Q22009151) (← links)
- A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q (Q24316327) (← links)
- Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction (Q24602944) (← links)
- Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings (Q24647074) (← links)
- C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment (Q25257125) (← links)
- Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward (Q26799628) (← links)
- The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss (Q26863583) (← links)
- Inner ear symptoms and disease: pathophysiological understanding and therapeutic options (Q26997318) (← links)
- Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness (Q27009501) (← links)
- The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance. (Q28076301) (← links)
- Connexin-26 mutations in sporadic and inherited sensorineural deafness (Q28117673) (← links)
- Mutations in GJB6 cause hidrotic ectodermal dysplasia (Q28140272) (← links)
- Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus (Q28143612) (← links)
- A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? (Q28207515) (← links)
- GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review (Q28217345) (← links)
- Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells (Q28217685) (← links)
- Gap junctions and cochlear homeostasis (Q28245955) (← links)
- Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear (Q28302365) (← links)
- Purinergic control of intercellular communication between Hensen's cells of the guinea-pig cochlea (Q28360316) (← links)
- A fully atomistic model of the Cx32 connexon (Q28473231) (← links)
- Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) (Q28552418) (← links)
- Reduced Connexin26 in the Mature Cochlea Increases Susceptibility to Noise-Induced Hearing Lossin Mice (Q30386378) (← links)
- Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss (Q30430067) (← links)
- Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia (Q30435992) (← links)
- Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform (Q30438646) (← links)
- Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study. (Q30462691) (← links)
- Molecular biology of hearing (Q30467847) (← links)
- Future approaches for inner ear protection and repair (Q30474951) (← links)
- Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University (Q30477741) (← links)
- Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss (Q30478094) (← links)
- A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart (Q30490278) (← links)
- A genotype-phenotype correlation for GJB2 (connexin 26) deafness (Q30495323) (← links)
- Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists (Q30495354) (← links)
- Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26. (Q30573245) (← links)
- Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death (Q30578611) (← links)
- Advances in hereditary deafness (Q30665416) (← links)
- Expression of members of Wnt and Frizzled gene families in the postnatal rat cochlea (Q30717081) (← links)
- The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research. (Q30764402) (← links)
- Temporal bone histopathology in connexin 26-related hearing loss (Q30840222) (← links)
- Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency (Q30898157) (← links)
- Correlation between audiometric data and the 35delG mutation in ten patients (Q31146817) (← links)
- Human hereditary hearing impairment: mouse models can help to solve the puzzle (Q33346003) (← links)
- Beginning of a molecular era in hearing and deafness (Q33639128) (← links)
- Development of the vertebrate ear: insights from knockouts and mutants (Q33650550) (← links)
- Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. (Q33783963) (← links)
- Connexin gene mutations in human genetic diseases. (Q33892851) (← links)
- A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population (Q33949892) (← links)
- The genetics of childhood cataract (Q33959625) (← links)