ArticleAmerican journal of human genetics1996
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 114 citations in OpenAlex.
- Retrocochlear Auditory Dysfunctions (RADs) and Their Treatment: A Narrative Review.Audiology research · 2025Review
- The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.Human genetics · 2024Article
- Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2023Article
- Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.Audiology & neuro-otology · 2023Review
- A frameshift mutation ofFrontiers in pediatrics · 2022Article
- Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports.Journal of clinical medicine · 2020Review
- Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.International journal of molecular sciences · 2020Article
- Auditory synaptopathy, auditory neuropathy, and cochlear implantation.Laryngoscope investigative otolaryngology · 2019Review
- Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.Molecular genetics & genomic medicine · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.Scientific reports · 2018Article
- Article
- A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.Journal of molecular medicine (Berlin, Germany) · 2014Article
- Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.Journal of the Association for Research in Otolaryngology : JARO · 2011Article
- Membrane-anchored serine proteases in health and disease.Progress in molecular biology and translational science · 2011Review
- Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.Journal of medical genetics · 2007Article
- Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.American journal of human genetics · 2006Article
- A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.Human genetics · 2005Article
- Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.BMC medical genetics · 2004Article
- Genetic and environmental epidemiology of Alzheimer's disease in arabs residing in Israel.Journal of molecular neuroscience : MN · 2003Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere of chromosome 21. This genetic distance corresponds to <2.4 Mbp. Five marker loci typed from this region gave maximum LOD scores > or = to 3. Homozygosity of marker alleles was evident for only the most telomeric marker, D21S1259, suggesting that DFNB10 is closest to this locus. To our knowledge, this is the first evidence, at this location, for a gene that is involved in the development or maintenance of hearing. As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness.
Indexed as
Identifiers
8651303PMC1915077W1723909110What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.