E Wilcox

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
    Zubair 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
  2. ncbi request reprint Some deafness-causing mutations can be silenced with the appropriate gene partner
    E Wilcox
    Laboratory of Molecular Genetics, NIDCD, NIH, Rockville, MD 20850 3227, USA
    ScientificWorldJournal 1:202-3. 2001
  3. ncbi request reprint Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
    E R Wilcox
    Laboratory of Molecular Genetics, 5 Research Court, NIDCD NIH, Rockville, MD 20850, USA
    Cell 104:165-72. 2001
  4. ncbi request reprint Modifier genes of hereditary hearing loss
    T Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
    Curr Opin Neurobiol 10:487-93. 2000
  5. pmc Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
    H J Park
    Section on Gene Structure and Function, National Institutes of Health, Rockville, Maryland 20850, USA
    J Med Genet 40:242-8. 2003
  6. ncbi request reprint Dominant modifier DFNM1 suppresses recessive deafness DFNB26
    S Riazuddin
    Laboratory of Molecular Genetics, NIDCD NIH, Rockville, Maryland, USA
    Nat Genet 26:431-4. 2000
  7. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J 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
  8. ncbi request reprint A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    P 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
  9. ncbi request reprint Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
    A 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
  10. ncbi request reprint Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    N 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

Collaborators

  • Thomas B Friedman
  • A K Lalwani
  • Walter Nance
  • S L Bernstein
  • Maria Bitner-Glindzicz
  • X Z Liu
  • Richard J Smith
  • A J Griffith
  • K Noben-Trauth
  • R Morell
  • M N Rivolta
  • C Petit
  • Shelley Smith
  • S Riazuddin
  • S Naz
  • Z M Ahmed
  • Z Ahmed
  • X C Li
  • T N Smith
  • S Khan
  • Y Liang
  • Zubair M Ahmed
  • H J Park
  • S N Khan
  • M Ghosh
  • A Pandya
  • A Wang
  • P K Jain
  • J M Bork
  • N Liburd
  • T Ben-Yosef
  • S Wayne
  • S Yasunaga
  • D Desmukh
  • J R Lupski
  • K S Chen
  • M E O'Neill
  • S A Camper
  • C Wang
  • F J Probst
  • D Deshmukh
  • K Fukushima
  • A Ramesh
  • Zahoor Ahmad
  • Kiran Dhillon
  • Linda MacLaren
  • Terry Lynn Young
  • Elizabeth Ives
  • J F Battey
  • Khushnooda Ramzan
  • L L Hampton
  • Barbara Ploplis
  • Xiaoyan Cindy Li
  • Shontell D Powell
  • Lawrence I Shotland
  • A Chen
  • Sandra Luscombe
  • Saima Riazuddin
  • C Negrini
  • Sheikh Riazuddin
  • S K Moon
  • S I Usami
  • M H Sanati
  • S Shaukat
  • H N Kim
  • S Abe
  • S H Hahn
  • A Mowjoodi
  • R Erdenetungalag
  • K Tukamoto
  • F Alasti
  • J Radnaabazar
  • M Kabra
  • T Smith
  • P S Menon
  • K Shibuya
  • C R Srisailpathy
  • M Schloss
  • L Ni
  • V M Kaloustian
  • G Wistow
  • B Bonne-Tamir
  • L M Peters
  • S E Antonarakis
  • S L Ness
  • J Kudoh
  • G Van Camp
  • L Potocki
  • S Bellman
  • M Wattenhofer

Detail Information

Publications24

  1. pmc Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
    Zubair 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
    ....
  2. ncbi request reprint Some deafness-causing mutations can be silenced with the appropriate gene partner
    E 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...
  3. ncbi request reprint Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
    E 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...
  4. ncbi request reprint Modifier genes of hereditary hearing loss
    T 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...
  5. pmc Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
    H 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...
  6. ncbi request reprint Dominant modifier DFNM1 suppresses recessive deafness DFNB26
    S 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...
  7. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J 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...
  8. ncbi request reprint A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    P 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...
  9. ncbi request reprint Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
    A 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...
  10. ncbi request reprint Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
    N 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...
  11. pmc Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
    S 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...
  12. ncbi request reprint A novel zinc finger gene preferentially expressed in the retina and the organ of Corti localizes to human chromosome 12q24.3
    M 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...
  13. pmc Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2
    Y 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...
  14. pmc Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    Z 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...
  15. pmc Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
    T Ben-Yosef
    J Med Genet 38:396-400. 2001
  16. ncbi request reprint A mutation in PDS causes non-syndromic recessive deafness
    X C Li
    Nat Genet 18:215-7. 1998
  17. pmc OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9
    S 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...
  18. ncbi request reprint The molecular genetics of Usher syndrome
    Z 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...
  19. ncbi request reprint An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6
    K 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...
  20. pmc Distinctive audiometric profile associated with DFNB21 alleles of TECTA
    S Naz
    J Med Genet 40:360-3. 2003
  21. ncbi request reprint A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2
    C 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...
  22. ncbi request reprint A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6
    M 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...
  23. ncbi request reprint A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
    A 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...
  24. pmc 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 families
    A 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...