Zobrazeno 1 - 10
of 177
pro vyhledávání: '"Zubair M Ahmed"'
Autor:
Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Publikováno v:
eLife, Vol 10 (2021)
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for
Externí odkaz:
https://doaj.org/article/b6069badb6b14498bff5ec71588e5683
Autor:
Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M Ahmed
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239748 (2020)
Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmen
Externí odkaz:
https://doaj.org/article/85d46cc9517947e885d21b1f1254512f
Autor:
Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 14, Iss 3, p e1007297 (2018)
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing
Externí odkaz:
https://doaj.org/article/82cbaa41f0b04304a24ab3821e971473
Autor:
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Abstract Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, and synapse formation. We r
Externí odkaz:
https://doaj.org/article/50e5cd7c61094b2f8a582125939521fc
Autor:
Ayesha Yousaf, Sairah Yousaf, Asra S. Shabbir, Rafia Yousaf, Saima Riazuddin, Rehan S. Shaikh, Regie Lyn P. Santos‐Cortez, Zubair M. Ahmed
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
Abstract Background Otitis media (OM) is the most frequent and complex middle ear condition with multifactorial etiology including genetic predisposition. OM depicts a variable clinical spectrum, leading to speech, developmental delay, and hearing lo
Externí odkaz:
https://doaj.org/article/1e03f75a035c448caef401d07f158078
Autor:
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo
Externí odkaz:
https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10
Autor:
Ivica Mašindová, Andrea Šoltýsová, Lukáš Varga, Petra Mátyás, Andrej Ficek, Miloslava Hučková, Martina Sůrová, Dana Šafka-Brožková, Saima Anwar, Judit Bene, Slavomír Straka, Ingrid Janicsek, Zubair M Ahmed, Pavel Seeman, Béla Melegh, Milan Profant, Iwar Klimeš, Saima Riazuddin, Ľudevít Kádasi, Daniela Gašperíková
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0124232 (2015)
In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among
Externí odkaz:
https://doaj.org/article/2211c17f1c124b1f8927900caae4f350
Autor:
Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahmed, Bernice E Morrow
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141259 (2015)
Externí odkaz:
https://doaj.org/article/30a149114bd04a568cf6c7798c792084
Autor:
Arnaud P J Giese, Jess G Guarnaschelli, Jonette A Ward, Daniel I Choo, Saima Riazuddin, Zubair M Ahmed
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0143606 (2015)
Radiotherapy of individuals suffering with head & neck or brain tumors subserve the risk of sensorineural hearing loss. Here, we evaluated the protective effect of Aminothiol PrC-210 (3-(methyl-amino)-2-((methylamino)methyl)propane-1-thiol) on the ir
Externí odkaz:
https://doaj.org/article/910d9d714c8840d188072125713d9af6
Autor:
Kunjan Patel, Arnaud P Giese, J M Grossheim, Rashmi S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahmed, Bernice E Morrow
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0133082 (2015)
Hearing loss is a complex disorder caused by both genetic and environmental factors. Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in Pakistani and Turkish populations. Here we report a novel (c.556C>T;
Externí odkaz:
https://doaj.org/article/7c25e98ab1604238ab40b31e9ec90e09