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270 related items for PubMed ID: 18501347
1. Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract. Varadaraj K, Kumari SS, Patil R, Wax MB, Mathias RT. Exp Eye Res; 2008 Jul; 87(1):9-21. PubMed ID: 18501347 [Abstract] [Full Text] [Related]
2. Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion. Kumari SS, Gandhi J, Mustehsan MH, Eren S, Varadaraj K. Exp Eye Res; 2013 Nov; 116():371-85. PubMed ID: 24120416 [Abstract] [Full Text] [Related]
3. An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. Senthil Kumar G, Kyle JW, Minogue PJ, Dinesh Kumar K, Vasantha K, Berthoud VM, Beyer EC, Santhiya ST. Exp Eye Res; 2013 May; 110():136-41. PubMed ID: 23116563 [Abstract] [Full Text] [Related]
4. A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family. Song Z, Wang L, Liu Y, Xiao W. PLoS One; 2015 May; 10(3):e0119296. PubMed ID: 25803033 [Abstract] [Full Text] [Related]
5. AQP0-LTR of the Cat Fr mouse alters water permeability and calcium regulation of wild type AQP0. Kalman K, Németh-Cahalan KL, Froger A, Hall JE. Biochim Biophys Acta; 2006 Aug; 1758(8):1094-9. PubMed ID: 16515771 [Abstract] [Full Text] [Related]
10. Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P. Hum Mol Genet; 2000 Sep 22; 9(15):2329-34. PubMed ID: 11001937 [Abstract] [Full Text] [Related]
11. Intact and N- or C-terminal end truncated AQP0 function as open water channels and cell-to-cell adhesion proteins: end truncation could be a prelude for adjusting the refractive index of the lens to prevent spherical aberration. Sindhu Kumari S, Varadaraj K. Biochim Biophys Acta; 2014 Sep 22; 1840(9):2862-77. PubMed ID: 24821012 [Abstract] [Full Text] [Related]