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Items: 1 to 20 of 33

1.
Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation.
T Moross, S S Vaithilingam, S Styles, H A Gardner
J Med Genet. 1984 Feb; 21(1): 52–53. doi: 10.1136/jmg.21.1.52
PMCID:
PMC1049206
SummaryPage BrowsePDF–271K
2.
Enhanced expression of transglutaminase 2 in anterior polar cataracts and its induction by TGF-β in vitro
X H Wan, E H Lee, H J Koh, J Song, E K Kim, C Y Kim, J B Lee, S-Y Kim, K Yao, J H Lee
Br J Ophthalmol. 2002 Nov; 86(11): 1293–1298. doi: 10.1136/bjo.86.11.1293
PMCID:
PMC1771348
AbstractArticlePDF–252K
3.
Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene
P K F Addison, V Berry, A C W Ionides, P J Francis, S S Bhattacharya, A T Moore
Br J Ophthalmol. 2005 Feb; 89(2): 138–141. doi: 10.1136/bjo.2004.053413
PMCID:
PMC1772502
AbstractArticlePDF–109K
4.
Molecular analysis of resolving immune responses in uveitis
P I Murray, C D Clay, C Mappin, M Salmon
Clin Exp Immunol. 1999 Sep; 117(3): 455–461. doi: 10.1046/j.1365-2249.1999.00993.x
PMCID:
PMC1905363
AbstractArticlePDF–113K
5.
Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract
Peng Chen, Xiaodan Hao, Wenfeng Li, Xiaowen Zhao, Yusen Huang
Sci Rep. 2016; 6: 31021. Published online 2016 Aug 3. doi: 10.1038/srep31021
PMCID:
PMC4971526
AbstractArticlePDF–1.6M
6.
PAX6 aniridia and interhemispheric brain anomalies
Hana Abouzeid, Mohamed A. Youssef, Nihal ElShakankiri, Philippe Hauser, Francis L. Munier, Daniel F. Schorderet
Mol Vis. 2009; 15: 2074–2083. Published online 2009 Oct 17.
PMCID:
PMC2765237
AbstractArticlePDF–1.3M
7.
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity
Suad AlFadhli, Sidky Abdelmoaty, Amal Al-Hajeri, Abdulmutalib Behbehani, Fowzan Alkuraya
Mol Vis. 2012; 18: 2931–2936. Published online 2012 Dec 9.
PMCID:
PMC3533929
AbstractArticlePDF–494K
8.
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination
Tiago Ferreira da Silva, Jessica Eira, André T. Lopes, Ana R. Malheiro, Vera Sousa, Adrienne Luoma, Robin L. Avila, Ronald J.A. Wanders, Wilhelm W. Just, Daniel A. Kirschner, Mónica M. Sousa, Pedro Brites
J Clin Invest. 2014 Jun 2; 124(6): 2560–2570. Published online 2014 Apr 24. doi: 10.1172/JCI72063
PMCID:
PMC4038568
AbstractArticlePDF–4.2M
9.
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Rakovic, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers
Am J Hum Genet. 2015 Feb 5; 96(2): 245–257. doi: 10.1016/j.ajhg.2014.12.013
PMCID:
PMC4320260
AbstractArticlePDF–1.3M
10.
Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians
Amal F. Gharib, Sherif A. Dabour, Rasha L. Etewa, Rania A. Fouad
Mol Vis. 2014; 20: 661–669. Published online 2014 May 21.
PMCID:
PMC4029483
AbstractArticlePDF–454K
11.
X-ray diffraction studies on merohedrally twinned Δ1–62NtNBCe1-A crystals of the sodium/bicarbonate cotransporter
Harindarpal S. Gill, Lauren Dutcher, Walter F. Boron, Samir Patel, Lisa M. Guay-Woodford
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2013 Jul 1; 69(Pt 7): 796–799. Published online 2013 Jun 28. doi: 10.1107/S1744309113016710
PMCID:
PMC3702328
AbstractArticlePDF–316K
12.
Laboratory Abnormalities in Patients with Myotonic Dystrophy Type 2
Chad Heatwole, Nicholas Johnson, Bradley Goldberg, William Martens, Richard Moxley, III
Arch Neurol. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Arch Neurol. 2011 Sep; 68(9): 1180–1184. doi: 10.1001/archneurol.2011.191
PMCID:
PMC3429333
AbstractArticlePDF–288K
13.
Hematologic biomarkers in childhood cataracts
O. Wussuki-Lior, A. Abu-Horowitz, I. Netzer, Z. Almer, Y. Morad, Y. Goldich, V. Yahalom, El. Pras, Er. Pras
Mol Vis. 2011; 17: 1011–1015. Published online 2011 Apr 24.
PMCID:
PMC3084226
AbstractArticlePDF–621K
14.
COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia
Orly Goldstein, Richard Guyon, Anna Kukekova, Sue Pearce-Kelling, Jennifer Johnson, Gustavo D. Aguirre, Gregory M. Acland
Mamm Genome. Author manuscript; available in PMC 2011 Aug 5.
Published in final edited form as: Mamm Genome. 2010 Aug; 21(7-8): 398–408. Published online 2010 Aug 5. doi: 10.1007/s00335-010-9276-4
PMCID:
PMC2954766
AbstractArticlePDF–1.0M
15.
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
16.
Deamidation alters interactions of β-crystallins in hetero-oligomers
Takumi Takata, Luke G. Woodbury, Kirsten J. Lampi
Mol Vis. 2009; 15: 241–249. Published online 2009 Jan 28.
PMCID:
PMC2633459
AbstractArticlePDF–4.3M
17.
Synergistic Transcription Activation by Maf and Sox and Their Subnuclear Localization Are Disrupted by a Mutation in Maf That Causes Cataract
Nirmala Rajaram, Tom K. Kerppola
Mol Cell Biol. 2004 Jul; 24(13): 5694–5709. doi: 10.1128/MCB.24.13.5694-5709.2004
PMCID:
PMC480896
AbstractArticlePDF–963K
18.
Temperature-dependent structural and functional properties of a mutant (F71L) αA-crystallin: Molecular basis for early onset of age-related cataract
Vakdevi Validandi, V. Sudhakar Reddy, P.N.B.S. Srinivas, Niklaus H. Mueller, S.G. Bhagyalaxmi, T. Padma, J. Mark Petrash, G. Bhanuprakash Reddy
FEBS Lett. Author manuscript; available in PMC 2014 Jul 18.
Published in final edited form as: FEBS Lett. 2011 Dec 15; 585(24): 3884–3889. Published online 2011 Nov 11. doi: 10.1016/j.febslet.2011.10.049
PMCID:
PMC4103624
AbstractArticlePDF–1.1M
19.
Plasma miR-19b, miR-34a, and miR-146a expression in patients with type 2 diabetes mellitus and cataract: A pilot study
Adina Iuliana Milcu, Flavia Medana Anghel, Mirabela Romanescu, Aimee Rodica Chis, Andrei Anghel, Ovidiu Boruga
Biomol Biomed. 2024 Jun 1; 24(3): 537–544. Published online 2024 Jun 1. doi: 10.17305/bb.2023.9933
PMCID:
PMC11088884
AbstractArticlePDF–3.5M
20.
Impairment of Colour Vision in Diabetes with No Retinopathy: Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetics Study (SNDREAMS- II, Report 3)
Laxmi Gella, Rajiv Raman, Vaitheeswaran Kulothungan, Swakshyar Saumya Pal, Suganeswari Ganesan, Tarun Sharma
PLoS One. 2015; 10(6): e0129391. Published online 2015 Jun 8. doi: 10.1371/journal.pone.0129391
PMCID:
PMC4460124
AbstractArticlePDF–191K

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