S
Sheikh Riazuddin
Researcher at Jinnah Hospital, Lahore
Publications - 18
Citations - 1198
Sheikh Riazuddin is an academic researcher from Jinnah Hospital, Lahore. The author has contributed to research in topics: Hearing loss & Missense mutation. The author has an hindex of 10, co-authored 18 publications receiving 1066 citations. Previous affiliations of Sheikh Riazuddin include Pakistan Institute of Medical Sciences & University of Lahore.
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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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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.
Journal ArticleDOI
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15
Zubair M. Ahmed,Richard J. Goodyear,Saima Riazuddin,Ayala Lagziel,P. Kevin Legan,Martine Behra,Shawn M. Burgess,Kathryn S. Lilley,Edward R. Wilcox,Sheikh Riazuddin,Andrew J. Griffith,Gregory I. Frolenkov,Inna A. Belyantseva,Guy P. Richardson,Thomas B. Friedman +14 more
TL;DR: The tip-link antigen is identified as an avian ortholog of human protocadherin-15, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye.
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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
Atteeq U. Rehman,Khitab Gul,Robert J. Morell,Kwanghyuk Lee,Zubair M. Ahmed,Saima Riazuddin,Rana A. Ali,Mohsin Shahzad,Ateeq-ul Jaleel,Paula B. Andrade,Shaheen N. Khan,Saadullah Khan,Carmen C. Brewer,Wasim Ahmad,Suzanne M. Leal,Sheikh Riazuddin,Thomas B. Friedman +16 more
TL;DR: One frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage are described.
Journal ArticleDOI
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Regie Lyn P. Santos-Cortez,Rabia Faridi,Rabia Faridi,Atteeq U. Rehman,Kwanghyuk Lee,Muhammad Ansar,Muhammad Ansar,Xin Wang,Robert J. Morell,Rivka L. Isaacson,Inna A. Belyantseva,Hang Dai,Anushree Acharya,Tanveer A. Qaiser,Dost Muhammad,Rana A. Ali,Sulaiman Shams,Muhammad Jawad Hassan,Shaheen Shahzad,Syed Irfan Raza,Zil E Huma Bashir,Joshua D. Smith,Deborah A. Nickerson,Michael J. Bamshad,Sheikh Riazuddin,Sheikh Riazuddin,Wasim Ahmad,Thomas B. Friedman,Suzanne M. Leal +28 more
TL;DR: The findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2 through targeted stimulated binding of sphingosine-1-phosphate.