R
Rana A. Ali
Researcher at University of the Punjab
Publications - 8
Citations - 595
Rana A. Ali is an academic researcher from University of the Punjab. The author has contributed to research in topics: Hearing loss & Locus (genetics). The author has an hindex of 8, co-authored 8 publications receiving 524 citations. Previous affiliations of Rana A. Ali include University of Lahore & Panjab University, Chandigarh.
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Journal ArticleDOI
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin,Inna A. Belyantseva,Arnaud P. J. Giese,Kwanghyuk Lee,Artur A. Indzhykulian,Sri Pratima Nandamuri,Rizwan Yousaf,Rizwan Yousaf,Ghanshyam P. Sinha,Sue Lee,David Terrell,Rashmi S. Hegde,Rana A. Ali,Saima Anwar,Paula B. Andrade-Elizondo,Asli Sirmaci,Leslie V. Parise,Sulman Basit,Abdul Wali,Muhammad Ayub,Muhammad Ansar,Wasim Ahmad,Shaheen N. Khan,Javed Akram,Mustafa Tekin,Sheikh Riazuddin,Sheikh Riazuddin,Tiffany Cook,Tiffany Cook,Elke K. Buschbeck,Gregory I. Frolenkov,Suzanne M. Leal,Thomas B. Friedman,Zubair M. Ahmed,Zubair M. Ahmed,Zubair M. Ahmed +35 more
TL;DR: It is reported that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J), and it is shown that C IB2 is a new member of the vertebrate Usher interactome.
Journal ArticleDOI
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
Guntram Borck,Atteeq U. Rehman,Atteeq U. Rehman,Kwanghyuk Lee,Hans Martin Pogoda,Naseebullah Kakar,Simon von Ameln,Simon von Ameln,Nicolas Grillet,Michael S. Hildebrand,Zubair M. Ahmed,Zubair M. Ahmed,Gudrun Nürnberg,Muhammad Ansar,Sulman Basit,Qamar Javed,Robert J. Morell,Nabilah Nasreen,A. Eliot Shearer,Adeel Ahmad,Kimia Kahrizi,Rehan S. Shaikh,Rehan S. Shaikh,Rana A. Ali,Shaheen N. Khan,Ingrid Goebel,Ingrid Goebel,Nicole C. Meyer,William J. Kimberling,Jennifer Webster,Dietrich A. Stephan,Dietrich A. Stephan,Martin R. Schiller,Melanie Bahlo,Hossein Najmabadi,Peter G. Gillespie,Peter Nürnberg,Bernd Wollnik,Saima Riazuddin,Saima Riazuddin,Richard J.H. Smith,Wasim Ahmad,Ulrich Müller,Matthias Hammerschmidt,Thomas B. Friedman,Sheikh Riazuddin,Suzanne M. Leal,Jamil Ahmad,Christian Kubisch,Christian Kubisch +49 more
TL;DR: Loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a Conserved function in hearing in vertebrates, are identified as underlying nonsyndromic prelingual sensorineural hearing impairment.
Journal ArticleDOI
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Zubair M. Ahmed,Saima Riazuddin,Sandar Aye,Rana A. Ali,Hanka Venselaar,Saima Anwar,Polina P. Belyantseva,Muhammad Qasim,Sheikh Riazuddin,Thomas B. Friedman +9 more
TL;DR: An updated gene structure is described that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes, and molecular modeling provided mechanistic insight into the phenotypic variation in severity of the PCDH 15 missense mutations.
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
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.