Zubair M Ahmed

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Clinical manifestations of DFNB29 deafness
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Adv Otorhinolaryngol 61:156-60. 2002
  2. 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
  3. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
  4. ncbi request reprint The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
    Quratul Ain
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan
    Hum Genet 122:445-50. 2007
  5. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
  6. doi request reprint Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Hum Mutat 29:502-11. 2008
  7. doi request reprint SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis
    Saima Anwar
    National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    J Hum Genet 54:266-70. 2009
  8. ncbi request reprint Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts
    Ricky J L Haywood-Watson
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850, and the Molecular and Cellular Biology Program, Tulane University, New Orleans, LA, USA
    Invest Ophthalmol Vis Sci 47:3074-84. 2006
  9. doi request reprint Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    J Med Genet 48:767-75. 2011
  10. ncbi request reprint Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
    Shahid Y Khan
    National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Hum Mutat 28:417-23. 2007

Collaborators

Detail Information

Publications39

  1. ncbi request reprint Clinical manifestations of DFNB29 deafness
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Adv Otorhinolaryngol 61:156-60. 2002
  2. 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
    ....
  3. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
    ..Does homozygosity for both v and av mutant alleles (i.e., a double homozygous mouse) cause retinal degeneration or an obvious retinal histopathology?..
  4. ncbi request reprint The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
    Quratul Ain
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan
    Hum Genet 122:445-50. 2007
    ..DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p...
  5. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
    ..Although TPRN is expressed in many tissues, immunolocalization of the protein product in the mouse cochlea shows prominent expression in the taper region of hair cell stereocilia. Consequently, we named the protein taperin...
  6. doi request reprint Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    Hum Mutat 29:502-11. 2008
    ..This finding is consistent with the hypothesis that p.E1716del causes a less severe phenotype (DFNB2) than the USH1B-associated alleles because the resulting protein retains some degree of normal function...
  7. doi request reprint SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis
    Saima Anwar
    National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    J Hum Genet 54:266-70. 2009
    ..S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis...
  8. ncbi request reprint Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts
    Ricky J L Haywood-Watson
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850, and the Molecular and Cellular Biology Program, Tulane University, New Orleans, LA, USA
    Invest Ophthalmol Vis Sci 47:3074-84. 2006
    ..In this study, the auditory, visual and molecular biological phenotype of Pcdh15av-5J and Pcdh15av-Jfb mice is characterized, and their usefulness as animal models of USH1 is evaluated...
  9. doi request reprint Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    J Med Genet 48:767-75. 2011
    ..The phenotype of a CDH23 compound heterozygote for a DFNB12 allele in trans configuration to an USH1D allele is not known and cannot be predicted from current understanding of cadherin 23 function in the retina and vestibular labyrinth...
  10. ncbi request reprint Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
    Shahid Y Khan
    National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Hum Mutat 28:417-23. 2007
    ..Further, high-resolution confocal microscopy in mouse inner ear demonstrates that radixin is expressed along the length of stereocilia of hair cells from both the organ of Corti and the vestibular system...
  11. pmc DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3
    Shahid Yar Khan
    National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
    Eur J Hum Genet 18:125-9. 2010
    ..We are currently screening the 113 candidate DFNB79 genes for mutations and have excluded CACNA1B, EDF1, PTGDS, EHMT1, QSOX2, NOTCH1, MIR126 and MIR602...
  12. pmc Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
    Julie M Schultz
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 85:25-39. 2009
    ..Overexpression of HGF is associated with progressive degeneration of outer hair cells in the cochlea, whereas cochlear deletion of Hgf is associated with more general dysplasia...
  13. pmc Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Am J Hum Genet 85:273-80. 2009
    ..We demonstrate that BSND mutations with different functional consequences are the basis for either syndromic or nonsyndromic deafness...
  14. ncbi request reprint Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development
    Ayala Lagziel
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Dev Biol 280:295-306. 2005
    ..Our results suggest that Cdh23 participation in stereocilia links may be restricted to developing hair bundles...
  15. ncbi request reprint PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Hum Mol Genet 12:3215-23. 2003
    ..Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function...
  16. ncbi request reprint Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3
    Shahid Y Khan
    National Center of Excellence in Molecular Biology, University of Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, Pakistan
    Hum Genet 120:789-93. 2007
    ..82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system...
  17. pmc Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
    Atteeq U Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 130:759-65. 2011
    ..Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81...
  18. pmc Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
    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 20850, USA
    Hum Genet 124:215-23. 2008
    ..1...
  19. ncbi request reprint The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
    J Neurosci 26:7022-34. 2006
    ..Protocadherin-15 is therefore associated with the tip-link complex and may be an integral component of this structure and/or required for its formation...
  20. ncbi request reprint Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing
    Nevra Nal
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850, Maryland, USA
    Hum Mutat 28:1014-9. 2007
    ..These data demonstrate that isoform 1, containing the large N-terminal extension, is also necessary for normal hearing...
  21. pmc Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
    Saima Riazuddin
    Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head and Neck Surgery, Cincinnati Children s Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA
    BMC Med Genet 12:21. 2011
    ..Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia...
  22. pmc Tricellulin is a tight-junction protein necessary for hearing
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 79:1040-51. 2006
    ..A wild-type isoform of tricellulin, which lacks this conserved region, is unaffected by the mutant alleles and is hypothesized to be sufficient for structural and functional integrity of epithelial barriers outside the inner ear...
  23. pmc Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health NIH, Rockville, MD 20850, USA
    Am J Hum Genet 78:137-43. 2006
    ..Genetic heterogeneity at this locus is suggested by three additional families that show significant evidence of linkage of deafness to markers on chromosome 22q13 but that apparently have no mutations in the TRIOBP gene...
  24. ncbi request reprint A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    Tamar Ben-Yosef
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 348:1664-70. 2003
  25. ncbi request reprint Genetic modifiers of hereditary hearing loss
    Saima Riazuddin
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Adv Otorhinolaryngol 61:224-9. 2002
  26. pmc Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing
    Shin ichiro Kitajiri
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Cell 141:786-98. 2010
    ..Thus, F-actin bundling by TRIOBP provides durability and rigidity for normal mechanosensitivity of stereocilia and may contribute to resilient cytoskeletal structures elsewhere...
  27. pmc Molecular and clinical studies of X-linked deafness among Pakistani families
    Ali M Waryah
    National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
    J Hum Genet 56:534-40. 2011
    ..Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis...
  28. ncbi request reprint Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Hum Genet 110:527-31. 2002
    ..We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18...
  29. pmc Mutations of MYO6 are associated with recessive deafness, DFNB37
    Zubair M Ahmed
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 72:1315-22. 2003
    ....
  30. ncbi request reprint Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
    Inna A Belyantseva
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Nat Cell Biol 7:148-56. 2005
    ..The interaction of myosin-XVa and whirlin is therefore a key event in hair-bundle morphogenesis...
  31. ncbi request reprint Recent advances in the understanding of syndromic forms of hearing loss
    Thomas B Friedman
    Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA
    Ear Hear 24:289-302. 2003
  32. pmc Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
    Nat Genet 40:1335-40. 2008
    ..We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents...
  33. ncbi request reprint Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
    Kiyoto Kurima
    Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
    Nat Genet 30:277-84. 2002
    ..Tmc1 mRNA is expressed in hair cells of the postnatal mouse cochlea and vestibular end organs and is required for normal function of cochlear hair cells...
  34. doi request reprint Usher syndrome: hearing loss with vision loss
    Thomas B Friedman
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders NIDCD, National Institutes of Health NIH, Rockville, MD, USA
    Adv Otorhinolaryngol 70:56-65. 2011
    ..At least nine genes have been identified with mutations that can cause USH. The proteins encoded by these genes are thought to interact with one another to form a network in the sensory cells of the inner ear and retina...
  35. ncbi request reprint Usher syndrome type 1: genotype-phenotype relationships
    Thomas B Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Retina 25:S40-S42. 2005
  36. ncbi request reprint A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
    Khushnooda Ramzan
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore 53700, Pakistan
    Hum Genet 116:17-22. 2005
    ..The mapping of DFNB49 further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness...
  37. ncbi request reprint DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1
    Jamil Ahmad
    National Centre of Excellence in Molecular Biology, University of the Punjab, 87 West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700 Pakistan
    Hum Genet 116:407-12. 2005
    ..The identification of another novel nonsyndromic recessive deafness locus demonstrates the high degree of locus heterogeneity for hearing impairment, particularly in the Pakistani population...
  38. pmc A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12
    Rehan Sadiq Shaikh
    Am J Med Genet A 138:392-5. 2005
  39. pmc Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 82:125-38. 2008
    ..Our data indicate that ESRRB is essential for inner-ear development and function. To our knowledge, this is the first report of pathogenic mutations of an estrogen-related receptor gene...