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Items: 1 to 20 of 54

1.
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
Jianjun Chen, Zhiwei Ma, Xiaodong Jiao, Robert Fariss, Wanda Lee Kantorow, Marc Kantorow, Eran Pras, Moshe Frydman, Elon Pras, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hejtmancik
Am J Hum Genet. 2011 Jun 10; 88(6): 827–838. doi: 10.1016/j.ajhg.2011.05.008
PMCID:
PMC3113247
AbstractArticlePDF–1.1M
2.
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan
BMC Med Genomics. 2024; 17: 203. Published online 2024 Aug 9. doi: 10.1186/s12920-024-01984-7
PMCID:
PMC11312174
AbstractArticlePDF–2.0M
3.
Association of alpha A-crystallin polymorphisms with susceptibility to nuclear age-related cataract in a Han Chinese population
Zhennan Zhao, Qi Fan, Peng Zhou, HongFei Ye, Lei Cai, Yi Lu
BMC Ophthalmol. 2017; 17: 133. Published online 2017 Jul 29. doi: 10.1186/s12886-017-0529-9
PMCID:
PMC5534246
AbstractArticlePDF–748K
4.
αB-crystallin is essential for the TGF-β2-mediated epithelial to mesenchymal transition of lens epithelial cells
Rooban B. Nahomi, Mina B. Pantcheva, Ram H. Nagaraj
Biochem J. Author manuscript; available in PMC 2016 Jun 30.
Published in final edited form as: Biochem J. 2016 May 15; 473(10): 1455–1469. Published online 2016 Mar 17. doi: 10.1042/BCJ20160128
PMCID:
PMC4928857
AbstractArticlePDF–2.4M
5.
Prevalence and antibacterial resistance patterns of extended-spectrum beta-lactamase producing Gram-negative bacteria isolated from ocular infections
G Rameshkumar, R Ramakrishnan, C Shivkumar, R Meenakshi, V Anitha, Y C Venugopal Reddy, V Maneksha
Indian J Ophthalmol. 2016 Apr; 64(4): 303–311. doi: 10.4103/0301-4738.182943
PMCID:
PMC4901849
AbstractArticlePDF–969K
6.
Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population
Gloria López Valverde, Elena Garcia Martin, José M. Larrosa Povés, Vicente Polo Llorens, Luis E. Pablo Júlvez
PLoS One. 2016; 11(6): e0156317. Published online 2016 Jun 1. doi: 10.1371/journal.pone.0156317
Correction in:
PLoS One. 2017; 12(1): e0171395.
PMCID:
PMC4889128
AbstractArticlePDF–841K
7.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel, Heinz Jungbluth
Brain. 2016 Mar; 139(3): 765–781. Published online 2016 Feb 17. doi: 10.1093/brain/awv393
PMCID:
PMC4766378
AbstractArticlePDF–1.7M
8.
Is there association between Glutathione S Transferases polymorphisms and cataract risk: a meta-analysis?
Wen Sun, Liling Su, Yan Sheng, Ye Shen, Guangdi Chen
BMC Ophthalmol. 2015; 15: 84. Published online 2015 Jul 26. doi: 10.1186/s12886-015-0065-4
PMCID:
PMC4514966
AbstractArticlePDF–1015K
9.
The Mutation V42M Distorts the Compact Packing of the Human Gamma-S-Crystallin Molecule, Resulting in Congenital Cataract
Venkata Pulla Rao Vendra, Sushil Chandani, Dorairajan Balasubramanian
PLoS One. 2012; 7(12): e51401. Published online 2012 Dec 21. doi: 10.1371/journal.pone.0051401
PMCID:
PMC3528740
AbstractArticlePDF–576K
10.
δ-Catenin Is Genetically and Biologically Associated with Cortical Cataract and Future Alzheimer-Related Structural and Functional Brain Changes
Gyungah Jun, Juliet A. Moncaster, Carolina Koutras, Sudha Seshadri, Jacqueline Buros, Ann C. McKee, Georges Levesque, Philip A. Wolf, Peter St. George-Hyslop, Lee E. Goldstein, Lindsay A. Farrer
PLoS One. 2012; 7(9): e43728. Published online 2012 Sep 11. doi: 10.1371/journal.pone.0043728
PMCID:
PMC3439481
AbstractArticlePDF–734K
11.
Spatial expression patterns of autophagy genes in the eye lens and induction of autophagy in lens cells
Lisa Ann Brennan, Wanda Lee Kantorow, Daniel Chauss, Rebecca McGreal, Shuying He, Lyndzie Mattucci, Jianning Wei, S. Amer Riazuddin, Ales Cvekl, J. Fielding Hejtmancik, Marc Kantorow
Mol Vis. 2012; 18: 1773–1786. Published online 2012 Jun 30.
PMCID:
PMC3398491
AbstractArticlePDF–1.7M
12.
Effects of a novel DNA methyltransferase inhibitor Zebularine on human lens epithelial cells
Peng Zhou, Yi Lu, Xing-Huai Sun
Mol Vis. 2012; 18: 22–28. Published online 2012 Jan 10.
PMCID:
PMC3258523
AbstractArticlePDF–1.1M
13.
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies
A Vincent, C McAlister, C VandenHoven, E Héon
Eye (Lond) 2011 Jan; 25(1): 113–118. Published online 2010 Nov 12. doi: 10.1038/eye.2010.165
PMCID:
PMC3144636
AbstractArticlePDF–411K
14.
High-throughput sequencing reveals novel lincRNA in age-related cataract
Na Zhang, Chunmei Zhang, Xu Wang, Yanhua Qi
Int J Mol Med. 2017 Dec; 40(6): 1829–1839. Published online 2017 Oct 11. doi: 10.3892/ijmm.2017.3185
PMCID:
PMC5716429
AbstractArticlePDF–1.6M
15.
Cortical, but Not Posterior Subcapsular, Cataract Shows Significant Familial Aggregation in an Older Population after Adjustment for Possible Shared Environmental Factors
Nathan Congdon, Karl W. Broman, Hong Lai, Beatriz Munoz, Heidi Bowie, Donna Gilbert, Robert Wojciechowski, Sheila K. West
Ophthalmology. Author manuscript; available in PMC 2011 May 25.
Published in final edited form as: Ophthalmology. 2005 Jan; 112(1): 73–77. doi: 10.1016/j.ophtha.2004.07.012
PMCID:
PMC3102010
AbstractArticlePDF–317K
16.
Identification and Spatial Analysis of Metallothioneins Expressed by the Adult Human Lens
Brian Oppermann, Weiyan Zhang, Kristine Magabo, Marc Kantorow
Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Oct 20.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2001 Jan; 42(1): 188–193.
PMCID:
PMC2957813
AbstractArticlePDF–1.1M
17.
The G18V CRYGS mutation associated with human cataracts increases γS-crystallin sensitivity to thermal and chemical stress
Zhiwei Ma, Grzegorz Piszczek, Paul T. Wingfield, Yuri V. Sergeev, J. Fielding Hejtmancik
Biochemistry. Author manuscript; available in PMC 2010 Aug 4.
Published in final edited form as: Biochemistry. 2009 Aug 4; 48(30): 7334–7341. doi: 10.1021/bi900467a
PMCID:
PMC2735583
AbstractArticlePDF–1.7M
18.
Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract
Vanita Vanita, Jai Rup Singh, Daljit Singh, Raymonda Varon, Karl Sperling
Mol Vis. 2009; 15: 476–481. Published online 2009 Mar 4.
PMCID:
PMC2650718
AbstractArticlePDF–7.7M
19.
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts
Xu Ma, Fei-Feng Li, Shu-Zhen Wang, Chang Gao, Meng Zhang, Si-Quan Zhu
Mol Vis. 2008; 14: 1906–1911. Published online 2008 Oct 24.
PMCID:
PMC2573734
AbstractArticlePDF–6.0M
20.
LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract
Masaki Tanito, Masayoshi Minami, Masakazu Akahori, Sachiko Kaidzu, Yasuyuki Takai, Akihiro Ohira, Takeshi Iwata
Mol Vis. 2008; 14: 1898–1905. Published online 2008 Oct 27.
PMCID:
PMC2573732
AbstractArticlePDF–1.9M

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