- ►nih.gov HC Mefford, AJ Sharp, C Baker, A Itsara, Z … - The New England journal of medicine, 2008 - nejm.highwire.org H. Mefford, A. Sharp, C. Baker, A. Itsara, Z. Jiang, K. Buysse, S. Huang, V.
Maloney, J. Crolla, D. Baralle, A. Collins, C. Mercer, K. Norga, T. de Ravel, K.
Devriendt, E. Bongers, N. de Leeuw, W. Reardon, S. Gimelli, F. Bena, R. ... Cited by 76 - Related articles - All 12 versions
- ►nih.gov JF Hejtmancik - Seminars in Cell and Developmental Biology, 2007 - Elsevier Cataract can be defined as any opacity of the crystalline lens. Congenital
cataract is particularly serious because it has the potential for inhibiting
visual development, resulting in permanent blindness. Inherited cataracts ... Cited by 17 - Related articles - All 3 versions
V Vanita, JR Singh, D Singh, R Varon, K … - Molecular Vision, 2008 - pubmedcentral.nih.gov Affected individuals had a jellyfish-like cataract in association with
microcornea. Sequencing of GJA8 (connexin 50) showed a novel, heterozygous
c.134G→C change that resulted in the substitution of a highly conserved ... Cited by 6 - Related articles - All 6 versions
VM Berthoud, EC Beyer - Antioxidants & Redox Signaling, 2009 - liebertonline.com The eye lens is constantly subjected to oxidative stress from radiation and
other sources. The lens has several mechanisms to protect its components from
oxidative stress and to maintain its redox state, including enzy- matic ... Cited by 6 - Related articles - All 4 versions
N Sajjad, I Goebel, N Kakar, AM Cheema, C … - BMC Medical Genetics, 2008 - biomedcentral.com Hereditary cataracts are most frequently inherited as autosomal dominant traits,
but can also be inherited in an autosomal recessive or X-linked fashion. To
date, 12 loci for autosomal recessive cataracts have been mapped including ... Cited by 2 - Related articles - Cached - All 9 versions
SPG Ponnam, K Ramesha, S Tejwani, J … - Molecular Vision, 2008 - pubmedcentral.nih.gov Forty families (total of 100 affected and 84 unaffected individuals) were
recruited for the study. Probands were screened for pathogenic alterations in 10
different candidate genes including the lens intrinsic membrane protein-2 ... Cited by 2 - Related articles - All 5 versions
T Butt, W Yao, H Kaul, J Siaodong, L … - Mol Vis, 2007 - molvis.org Results: All the affected individuals of family PKCC009 show bilateral
membranous cataract, whereas the affected individuals of family PKCC039 show
bilateral posterior sub-capsular cataract. Other ocular abnormalities ... Cited by 1 - Related articles - Cached - All 3 versions
V Vanita, JR Singh, D Singh, R Varon, K … - Molecular Vision, 2008 - pubmedcentral.nih.gov This is an open-access article distributed under the terms of the Creative
Commons Attribution License, which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited. Cited by 1 - Related articles - All 5 versions
W Schmidt, N Klopp, T Illig, J Graw - Molecular Vision, 2008 - pubmedcentral.nih.gov The proband, AD, has a dense, triangular nuclear cataract. The parents are
consanguineous, and the mother and grandmother suffer from a discrete, symmetric
opacity of the fetal lens nucleus. The proband's lens cDNA showed a ... Cited by 2 - Related articles - All 5 versions
F Liška, B Chylíková, J Martínek, V Křen - Molecular Vision, 2008 - pubmedcentral.nih.gov We isolated an autosomal semi-dominant cataract from our inbred SHR/OlaIpcv rat
colony. Heterozygotes express pulverulent cataract with smaller eyes;
homozygotes express marked microphthalmia with hypoplastic lens. We call ... Related articles - All 5 versions
