E WilcoxSummaryAffiliation: National Institutes of Health Country: USA Publications
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanZubair M Ahmed
Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
BMC Med Genet 5:24. 2004....- Some deafness-causing mutations can be silenced with the appropriate gene partnerE Wilcox
Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, MD 20850 3227, USA
ScientificWorldJournal 1:202-3. 2001..Deafness is not the first disorder in which modifiers can change the expected outcome, nor will it be the last, but it is very unusual for the outcome to be so dramatically changed... - Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29E R Wilcox
Laboratory of Molecular Genetics, 5 Research Court, NIDCD NIH, Rockville, MD 20850, USA
Cell 104:165-72. 2001..In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti... - Modifier genes of hereditary hearing lossT Friedman
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
Curr Opin Neurobiol 10:487-93. 2000..Recent functional studies of modifier genes of hearing-loss loci have begun to refine our understanding of hearing processes and will guide the rational design of medical therapies for hearing loss... - Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafnessH J Park
Section on Gene Structure and Function, National Institutes of Health, Rockville, Maryland 20850, USA
J Med Genet 40:242-8. 2003..Our observation of a diverse allelic series unique to each ethnic group indicates that mutational events at SLC26A4 are common and account for approximately 5% of recessive deafness in south Asians and other populations... - Dominant modifier DFNM1 suppresses recessive deafness DFNB26S Riazuddin
Laboratory of Molecular Genetics, NIDCD NIH, Rockville, Maryland, USA
Nat Genet 26:431-4. 2000..A dominant modifier, DFNM1, that suppresses deafness in the 7 nonpenetrant individuals was mapped to a 5.6-cM region on chromosome 1q24 with a lod score of 4.31 at theta=0 for D1S2815... - Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J M Bork
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
Am J Hum Genet 68:26-37. 2001..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA... - A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C geneP K Jain
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850 3227, USA
Genomics 50:290-2. 1998..6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene... - Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3A Wang
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
Science 280:1447-51. 1998..Sequence analyses of these exons in affected individuals from three unrelated DFNB3 families revealed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness... - Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeN Liburd
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A 015, Rockville, MD 20850, USA
Hum Genet 109:535-41. 2001..In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss... - Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunctionS Naz
Section on Human Genetics, LMG, NIDCD, NIH, Rockville, MD 20850, USA
J Med Genet 41:591-5. 2004..The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness... - A novel zinc finger gene preferentially expressed in the retina and the organ of Corti localizes to human chromosome 12q24.3M N Rivolta
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850
Biochim Biophys Acta 1306:127-32. 1996..3. Because of its relative abundance in sensorineural structures (retina and organ of Corti), this regulatory gene should be considered a candidate for hereditary disorders involving hearing and visual impairments that link to 12q24.3... - Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2Y Liang
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, RockvilleMaryland 20850, USA
Am J Hum Genet 62:904-15. 1998..Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homologue of DFNB3... - Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FZ M Ahmed
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
Am J Hum Genet 69:25-34. 2001..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F... - Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafnessT Ben-Yosef
J Med Genet 38:396-400. 2001 - A mutation in PDS causes non-syndromic recessive deafnessX C Li
Nat Genet 18:215-7. 1998 - OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9S Yasunaga
Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 75724 Paris Cedex 15, France
Am J Hum Genet 67:591-600. 2000..In a southwestern Indian family affected by DFNB9, a mutation in the acceptor splice site of intron 8 was detected, which demonstrates that the long otoferlin isoforms are required for inner ear function... - The molecular genetics of Usher syndromeZ M Ahmed
National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
Clin Genet 63:431-44. 2003..Many of these protein products have been demonstrated to have direct interactions with each other and perform an essential role in stereocilia homeostasis... - An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6K Fukushima
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
Genome Res 5:305-8. 1995..Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3S1619 and D3S1766... - Distinctive audiometric profile associated with DFNB21 alleles of TECTAS Naz
J Med Genet 40:360-3. 2003 - A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2C Wang
Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology Head and Neck Surgery, University of California San Francisco, CA, USA
Mol Cell Probes 12:55-7. 1998..Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2... - A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6M E O'Neill
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
Hum Mol Genet 5:853-6. 1996..Using an extended American family in which a gene for autosomal dominant late-onset non-syndromic hearing impairment is segregating, we have identified a new locus, DFNA10, on chromosome 6... - A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degenerationA K Lalwani
Department of Otolaryngology, Head and Neck Surgery, University of California, San Francisco, USA
Audiol Neurootol 2:139-54. 1997..The genetic study of this family will be helpful in identifying the genes which, when mutated, result in Scheibe degeneration... - Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two familiesA K Lalwani
Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda
Am J Hum Genet 56:75-83. 1995..These homeodomain mutations should aid in elucidating the role of the homeodomain in the function of the PAX3 protein...