… R33C variant of AQP0 caused a significant reduction in the cell-to-cell adhesion of fiber cells
but did not influence the water channel function [21]… These results suggest that MIP/AQP0 is …

… AQP0 is the most abundant AQP in the lens fibre cell … cataract families examined in this
study had missense mutations in the … the change of arginine at amino acid 33 to cysteine (R33C), …

… Aqp0-R33C, a congenital cataract mutation of AQP0, showed proper intracellular trafficking,
… in our understanding of the adhesion function mediated by AQP0 and Cx50 in lens …

… has been the most studied function of AQP0, largely in expression … AQP0 mutation, R33C,
had reduced adhesive properties, while water permeability was unaffected [9]. Bovine AQP0 …

… AQP0 is thought to be almost exclusively expressed in lens fiber cells (Figure 3B); AQP1 is
… AQP0 mutations have been linked with congenital cataracts [177]. The knockdown of AQP1 …

… and functional analysis of aquaporin 2 mutants involved in … , structure, or regulation of
AQP0. Since the circulation within … the underlying mechanisms of congenital NDI (Paper IV). …

… missense mutation of AQP5 (c.152 T > C, p. L51P) in the four generations of the autosomal
dominant … Congenital cataract (CC) are characterized by the opacity of the lens of the eye and …

… clearly showed that the mutant AQP0-Ala101fs produced a … , including 20 missense
mutations, 10 frameshift mutations, … The cataract-linked R33C mutation causes no damage to the …

… In AQP6 and AQP0, lowering pH induces a totally opposite effect: an increase in water
transport capacity [154,155]. The pH sensitivity of AQP0 is affected by mutations on His40 from the …

… aquaporin0 (AQP0). Since Shiels and Bassett identified a novel … The nonsense mutation in
this study encoded a premature … R33C in the MIP gene associated with CC, and the cataract …