Research Topics
Genomes and Genes
| Zubair M AhmedSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Clinical manifestations of DFNB29 deafnessZubair M Ahmed
Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan
Adv Otorhinolaryngol 61:156-60. 2002- 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.... - Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationZubair 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?.. - Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Atteeq 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... - The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3Quratul 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... - Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionSaima 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... - SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in PakistanisSaima 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... - Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcriptsRicky 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... - Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie 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... - DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3Shahid 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... - Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid 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... - Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39Julie 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... - PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23Zubair 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... - Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell developmentAyala 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... - Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndromeSaima 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... - Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid 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... - Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pAtteeq 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... - The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15Zubair 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... - A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndromeTamar 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 - Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndromeZubair 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... - Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearingNevra 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... - Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima 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... - Tricellulin is a tight-junction protein necessary for hearingSaima 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... - Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima 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... - Molecular and clinical studies of X-linked deafness among Pakistani familiesAli 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... - Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearingShin 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... - Genetic modifiers of hereditary hearing lossSaima 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 - Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHICZubair 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... - Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereociliaInna 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... - Mutations of MYO6 are associated with recessive deafness, DFNB37Zubair 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.... - Recent advances in the understanding of syndromic forms of hearing lossThomas B Friedman
Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA
Ear Hear 24:289-302. 2003 - Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair 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... - Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto 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... - Usher syndrome: hearing loss with vision lossThomas 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... - Usher syndrome type 1: genotype-phenotype relationshipsThomas 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 - DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1Jamil 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... - A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12Rehan Sadiq Shaikh
Am J Med Genet A 138:392-5. 2005 - Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob 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... - A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1Khushnooda 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...