S
Syed Irfan Raza
Researcher at Quaid-i-Azam University
Publications - 26
Citations - 638
Syed Irfan Raza is an academic researcher from Quaid-i-Azam University. The author has contributed to research in topics: Hypotrichosis & Missense mutation. The author has an hindex of 12, co-authored 25 publications receiving 505 citations. Previous affiliations of Syed Irfan Raza include Harvard University & University of Wah.
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Journal ArticleDOI
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Sarah Spencer,Sevgi Köstel Bal,William Egner,William Egner,Hana Lango Allen,Hana Lango Allen,Syed Irfan Raza,Chi Ma,Meltem Gürel,Yuan Zhang,Guangping Sun,Ruth A. Sabroe,Daniel Greene,Daniel Greene,William Rae,Tala Shahin,Katarzyna D. Kania,Rico Chandra Ardy,Marini Thian,Emily Staples,Annika Pecchia-Bekkum,William P.M. Worrall,Jonathan Stephens,Jonathan Stephens,Matthew A. Brown,Matthew A. Brown,Salih Tuna,Salih Tuna,Melanie York,Melanie York,Fiona Shackley,Fiona Shackley,Diarmuid Kerrin,Ravishankar Sargur,Ravishankar Sargur,Alison M. Condliffe,Alison M. Condliffe,Hamid Nawaz Tipu,Hye Sun Kuehn,Sergio D. Rosenzweig,Ernest Turro,Simon Tavaré,Simon Tavaré,Adrian J. Thrasher,Duncan I. Jodrell,Kenneth G. C. Smith,Kaan Boztug,Joshua D. Milner,James Thaventhiran +48 more
TL;DR: It is reported that this is the first description of human IL-6R deficiency in two patients presenting with recurrent infections, atopy, elevated IgE, and abnormal acute-phase responses.
Journal ArticleDOI
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
Atteeq U. Rehman,Regie Lyn P. Santos-Cortez,Robert J. Morell,Meghan C. Drummond,Taku Ito,Kwanghyuk Lee,Asma A. Khan,Muhammad Asim Raza Basra,Naveed Wasif,Muhammad Ayub,Rana A. Ali,Syed Irfan Raza,Deborah A. Nickerson,Jay Shendure,Michael J. Bamshad,Saima Riazuddin,Neil Billington,Shaheen N. Khan,Penelope L. Friedman,Andrew J. Griffith,Wasim Ahmad,Sheikh Riazuddin,Sheikh Riazuddin,Suzanne M. Leal,Thomas B. Friedman +24 more
TL;DR: Findings, combined with published data, indicate that recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness.
Journal ArticleDOI
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
TL;DR: The identification of a genetic defect in LIPH suggests that this enzyme regulates hair growth, and a novel five base pair deletion mutation in exon 2 of the gene leading to frameshift and downstream premature termination codon is revealed.
Journal ArticleDOI
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly
Asma Gul,Muhammad Jawad Hassan,Sabir Hussain,Syed Irfan Raza,Muhammad Salman Chishti,Wasim Ahmad +5 more
TL;DR: Sequence analysis of exon 11 of CENPJ gene, located at MCPH6 locus, revealed a novel four base pair deletion mutation, which is predicted to be protein truncating.
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.