S
Sadaf Naz
Researcher at University of the Punjab
Publications - 83
Citations - 2824
Sadaf Naz is an academic researcher from University of the Punjab. The author has contributed to research in topics: Exome sequencing & Hearing loss. The author has an hindex of 21, co-authored 66 publications receiving 2532 citations. Previous affiliations of Sadaf Naz include Lahore College for Women University & National Institutes of Health.
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Journal ArticleDOI
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
Edward R. Wilcox,Quianna Burton,Sadaf Naz,Saima Riazuddin,Saima Riazuddin,Tenesha N. Smith,Barbara Ploplis,Inna A. Belyantseva,Tamar Ben-Yosef,Nikki A. Liburd,Robert J. Morell,Bechara Kachar,Doris K. Wu,Andrew J. Griffith,Sheikh Riazuddin,Thomas B. Friedman +15 more
TL;DR: In situ hybridization and immunofluorescence studies demonstrated mouse claudin-14 expression in the sensory epithelium of the organ of Corti and demonstrated tight junctions in the cochlear duct.
Journal ArticleDOI
Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function
Kiyoto Kurima,Linda M. Peters,Yandan Yang,Saima Riazuddin,Zubair M. Ahmed,Sadaf Naz,Deidre Arnaud,Stacy S. Drury,Jianhong Mo,Tomoko Makishima,Manju Ghosh,P. S N Menon,Dilip Deshmukh,Carole Oddoux,Harry Ostrer,Shaheen N. Khan,Sheikh Riazuddin,Prescott L. Deininger,Lori L. Hampton,Susan L. Sullivan,James F. Battey,Bronya J B Keats,Edward R. Wilcox,Thomas B. Friedman,Andrew J. Griffith +24 more
TL;DR: A locus for dominant deafness is reported, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locusfor recessive deafness, and eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), are identified.
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Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
Inna A. Belyantseva,Erich T. Boger,Erich T. Boger,Sadaf Naz,Gregory I. Frolenkov,James R. Sellers,Zubair M. Ahmed,Andrew J. Griffith,Thomas B. Friedman +8 more
TL;DR: It is demonstrated that if green fluorescent protein (GFP)-Myo15a is transfected into hair cells of Myo15ash2 mice, the wild-type pattern of hair bundles is restored by recruitment of endogenous whirlin to the tips of stereocilia.
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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
Hong Joon Park,S. Shahid Shaukat,Xue Zhong Liu,Hahn Sh,Sadaf Naz,Manju Ghosh,Kim Hn,Moon Sk,Satoko Abe,Tukamoto K,Sheikh Riazuddin,Madhulika Kabra,Erdenetungalag R,J Radnaabazar,Shaheen N. Khan,Arti Pandya,Shin-ichi Usami,Walter E. Nance,Edward R. Wilcox,Andrew J. Griffith +19 more
TL;DR: 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.
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Dominant modifier DFNM1 suppresses recessive deafness DFNB26
Saima Riazuddin,Saima Riazuddin,Caley M. Castelein,Zubair M. Ahmed,Zubair M. Ahmed,Anil K. Lalwani,Mary Ann Mastroianni,Sadaf Naz,Tenesha N. Smith,Nikki A. Liburd,Thomas B. Friedman,Andrew J. Griffith,Sheikh Riazuddin,Edward R. Wilcox +13 more
TL;DR: A new recessive nonsyndromic deafness locus is mapped to a 1.5-cM interval of chromosome 4q31 in a consanguineous Pakistani family and seven unaffected family members who are also homozygous for the DFNB26-linked haplotype and thus are non-penetrant are mapped.