Search Results - "Riazuddin, S"

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability by Riazuddin, S, Hussain, M, Razzaq, A, Iqbal, Z, Shahzad, M, Polla, D L, Song, Y, van Beusekom, E, Khan, A A, Tomas-Roca, L, Rashid, M, Zahoor, M Y, Wissink-Lindhout, W M, Basra, M A R, Ansar, M, Agha, Z, van Heeswijk, K, Rasheed, F, Van de Vorst, M, Veltman, J A, Gilissen, C, Akram, J, Kleefstra, T, Assir, M Z, Grozeva, D, Carss, K, Raymond, F L, O'Connor, T D, Riazuddin, S A, Khan, S N, Ahmed, Z M, de Brouwer, A P M, van Bokhoven, H, Riazuddin, S

“…Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the…”
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Overview of the Cornea: Structure, Function, and Development by Eghrari, Allen O, Riazuddin, S Amer, Gottsch, John D

“…The cornea is a transparent tissue with significant refractive and barrier functions. The epithelium serves as the principal barrier to fluid and pathogens, a…”
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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts by JIANJUN CHEN, ZHIWEI MA, AMER RIAZUDDIN, S, FIELDING HEJTMANCIK, J, XIAODONG JIAO, FARISS, Robert, LEE KANTOROW, Wanda, KANTOROW, Marc, PRAS, Eran, FRYDMAN, Moshe, PRAS, Elon, RIAZUDDIN, Sheikh

“…Congenital cataracts (CCs), responsible for about one-third of blindness in infants, are a major cause of vision loss in children worldwide…”
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Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy by Riazuddin, S. Amer, Parker, David S., McGlumphy, Elyse J., Oh, Edwin C., Iliff, Benjamin W., Schmedt, Thore, Jurkunas, Ula, Schleif, Robert, Katsanis, Nicholas, Gottsch, John D.

“…Fuchs corneal dystrophy (FCD) is a genetic disorder of the corneal endothelium and is the most common cause of corneal transplantation in the United States…”
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Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4 by Riazuddin, S. Amer, Vasanth, Shivakumar, Katsanis, Nicholas, Gottsch, John D.

“…Fuchs corneal dystrophy (FCD) is a hereditary dystrophy of the corneal endothelium and is responsible for majority of the corneal transplantation performed in…”
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A single-base substitution in the seed region of miR-184 causes EDICT syndrome by Iliff, Benjamin W, Riazuddin, S Amer, Gottsch, John D

“…To investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT). Previously…”
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Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing by Khan, Shahid Y, Hackett, Sean F, Lee, Mei-Chong W, Pourmand, Nader, Talbot, Jr, C Conover, Riazuddin, S Amer

“…Transcriptome is the entire repertoire of transcripts present in a cell at any particular time. We undertook a next-generation whole transcriptome sequencing…”
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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma by Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.

“…Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually within the first year of life,…”
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Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma by Rauf, Bushra, Irum, Bushra, Khan, Shahid Y, Kabir, Firoz, Naeem, Muhammad Asif, Riazuddin, Sheikh, Ayyagari, Radha, Riazuddin, S Amer

“…Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder caused by developmental defects in the anterior chamber and trabecular meshwork. This…”
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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family by Jiao, Xiaodong, Khan, Shahid Y, Kaul, Haiba, Butt, Tariq, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J Fielding, Riazuddin, S Amer

“…To investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family. All participating members of…”
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Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability by Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., Grozeva, D., Carss, K., Raymond, F. L., O’Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z. M., de Brouwer, A. P. M., van Bokhoven, H., Riazuddin, S.

“…This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of…”
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Lens Biology and Biochemistry by Hejtmancik, J Fielding, Riazuddin, S Amer, McGreal, Rebecca, Liu, Wei, Cvekl, Ales, Shiels, Alan

“…The primary function of the lens resides in its transparency and ability to focus light on the retina. These require both that the lens cells contain high…”
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Metabolome profiling of the developing murine lens by Khan, Shahid Y., Ali, Muhammad, Riazuddin, S. Amer

“…Metabolomics is a study of the entire repertoire of metabolites in a cell at a particular time point. Here, we investigate the mouse lens at multiple embryonic…”
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FYCO1 regulates autophagy and senescence via PAK1/p21 in cataract by Chen, Shuying, Zhao, Wei, Chen, Rongrong, Sheng, Feiyin, Gu, Yuzhou, Hao, Shengjie, Wu, Di, Lu, Bing, Chen, Lu, Wu, Yuhao, Xu, Yili, Han, Yu, Zhou, Lei, Riazuddin, S. Amer, Fu, Qiuli, Yao, Ke

“…ARC (Age-related cataract) is one of the leading causes of vision impairment and blindness; however, its pathogenesis remains unclear. FYCO1 (FYVE and…”
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Vitamin E protects rat mesenchymal stem cells against hydrogen peroxide-induced oxidative stress in vitro and improves their therapeutic potential in surgically-induced rat model of osteoarthritis by Bhatti, F.U, Mehmood, A, Latief, N, Zahra, S, Cho, H, Khan, S.N, Riazuddin, S

“…Summary Objective Oxidative stress is a major obstacle against cartilage repair in osteoarthritis (OA). Anti-oxidant agents can play a vital role in addressing…”
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Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach by Khan, Shahid Y., Ali, Muhammad, Jang, Yura, Ryu, Taekyung, Schwab, Andrew J., Ingram, Brian O., Cable, Peter H., Na, Chan Hyun, Handa, James T., Riazuddin, S. Amer

“…Here, we report a multi OMIC (transcriptome, proteome, and metabolome) approach to investigate molecular changes in lens fiber cells (FC) of mice exposed to…”
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The role of FYCO1-dependent autophagy in lens fiber cell differentiation by Khan, Shahid Y., Ali, Muhammad, Kabir, Firoz, Na, Chan Hyun, Delannoy, Michael, Ma, Yinghong, Qiu, Caihong, Costello, M. Joseph, Hejtmancik, J. Fielding, Riazuddin, S. Amer

“…FYCO1 (FYVE and coiled-coil domain containing 1) is an adaptor protein, expressed ubiquitously and required for microtubule-dependent, plus-end-directed…”
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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families by Li, Lin, Chen, Yabin, Jiao, Xiaodong, Jin, Chongfei, Jiang, Dan, Tanwar, Mukesh, Ma, Zhiwei, Huang, Li, Ma, Xiaoyin, Sun, Wenmin, Chen, Jianjun, Ma, Yan, M'hamdi, Oussama, Govindarajan, Gowthaman, Cabrera, Patricia E, Li, Jiali, Gupta, Nikhil, Naeem, Muhammad Asif, Khan, Shaheen N, Riazuddin, Sheikh, Akram, Javed, Ayyagari, Radha, Sieving, Paul A, Riazuddin, S Amer, Hejtmancik, J Fielding

“…The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This…”
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A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa by Chen, Yabin, Huang, Li, Jiao, Xiaodong, Riazuddin, Sheikh, Riazuddin, S Amer, Fielding Hetmancik, J

“…Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase…”
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Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies by Ali, Muhammad, Kabir, Firoz, Thomson, Jason J., Ma, Yinghong, Qiu, Caihong, Delannoy, Michael, Khan, Shahid Y., Riazuddin, S. Amer

“…The ocular lens serves as an excellent system to investigate the intricate details of development and differentiation. Generation of lentoid bodies or…”
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