Literature for DOID 2566: corneal dystrophy
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The Xenopus Tgfbi is required for embryogenesis through regulation of canonical Wnt signalling.,
Wang F,Hu W,Xian J,Ohnuma S,Brenton JD,
Dev Biol. July 1, 2013; 379(1):1095-564X.
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Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.,
Vilas GL,Loganathan SK,Liu J,Riau AK,Young JD,Mehta JS,Vithana EN,Casey JR,
Hum Mol Genet. November 15, 2013; 22(22):1460-2083.
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Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.,
Loganathan SK,Schneider HP,Morgan PE,Deitmer JW,Casey JR,
Am J Physiol Cell Physiol. November 1, 2016; 311(5):1522-1563.
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Polymorphism of the LIG3 gene in keratoconus and Fuchs endothelial corneal dystrophy.,
Synowiec E,Wojcik KA,Izdebska J,Binczyk E,Szaflik J,Blasiak J,Szaflik JP,
Cell Mol Biol (Noisy-le-grand). March 28, 2015; 61(1):0145-5680.
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pH dependence of the Slc4a11-mediated H+ conductance is influenced by intracellular lysine residues and modified by disease-linked mutations.,
Quade BN,Marshall A,Parker MD,
Am J Physiol Cell Physiol. August 1, 2020; 319(2):1522-1563.
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