Canlyniadau Chwilio - Sheikh Riazuddin

Some Deafness-Causing Mutations Can Be Silenced with the Appropriate Gene Partner gan Edward Wilcox, Saima Riazuddin, Sheikh Riazuddin

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In Vitro Differentiation Potential of Human Placenta Derived Cells into Skin Cells gan Ruhma Mahmood, Mahmood S. Choudhery, Azra Mehmood, Shaheen N. Khan, Sheikh Riazuddin

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A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa gan Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hetmancik

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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family. gan Xiaodong Jiao, Shahid Y Khan, Haiba Kaul, Tariq Butt, Muhammad Asif Naeem, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago gan Yan Ma, Xun Wang, Xun Wang, Nadav Shoshany, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Gregory Ku, Emma L. Baple, Emma L. Baple, James Fasham, James Fasham, Raheela Nadeem, Muhammad Asif Naeem, Sheikh Riazuddin, Sheikh Riazuddin, S. Amer Riazuddin, Andrew H. Crosby, J. Fielding Hejtmancik

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Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. gan Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts gan Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y. Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A. Qaiser, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

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Priming with caffeic acid enhances the potential and survival ability of human adipose-derived stem cells to counteract hypoxia gan H.M. Shifa ul Haq, Ramla Ashfaq, Azra Mehmood, Warda Shahid, Hafiz Ghufran Azam, Maryam Azam, Saba Tasneem, Shehla Javed Akram, Kausar Malik, Sheikh Riazuddin

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An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. gan Thomas J Jaworek, Elodie M Richard, Anna A Ivanova, Arnaud P J Giese, Daniel I Choo, Shaheen N Khan, Sheikh Riazuddin, Richard A Kahn, Saima Riazuddin

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A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. gan Xiaodong Jiao, Firoz Kabir, Bushra Irum, Arif O Khan, Qiwei Wang, David Li, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

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Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. gan Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

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CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function gan Saumil Sethna, Patrick A. Scott, Arnaud P. J. Giese, Todd Duncan, Xiaoying Jian, Sheikh Riazuddin, Paul A. Randazzo, T. Michael Redmond, Steven L. Bernstein, Saima Riazuddin, Zubair M. Ahmed

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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. gan Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma gan Bushra Rauf, Shahid Y. Khan, Xiaodong Jiao, Bushra Irum, Ramla Ashfaq, Mubashra Zehra, Asma A. Khan, Muhammad Asif Naeem, Mohsin Shahzad, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. gan Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari

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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts. gan Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

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Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. gan Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

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Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. gan Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly gan 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

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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 gan Shahid Y. Khan, Shivakumar Vasanth, Firoz Kabir, John D. Gottsch, Arif O. Khan, Raghothama Chaerkady, Mei-Chong W. Lee, Carmen C. Leitch, Zhiwei Ma, Julie Laux, Rafael Villasmil, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Robert N. Cole, C. Conover Talbot, Nader Pourmand, Norann A. Zaghloul, J. Fielding Hejtmancik, S. Amer Riazuddin

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