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XB--484626
Papers associated with mip (and OMIM)
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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V., JCI Insight. November 8, 2023; 8 (21):  |
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no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development., Nakayama T, Nakajima K, Cox A, Fisher M, Fisher M, Howell M, Fish MB, Yaoita Y, Grainger RM., Dev Biol. June 15, 2017; 426 (2): 472-486.  |
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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. November 1, 2013; 116 371-85.  |
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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. May 1, 2013; 110 136-41. |
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