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rs1465567 of EGFLAM and rs113710653 of SPATC1L may be susceptibility loci for true aortic aneurysm and rs143881017 of RNASE13 may be such a locus for dissecting aortic aneurysm in Japanese individuals.
Strong candidate gene for macular dystrophy, MCDR3 (human 5p15.33-p13.1). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database.
Pikachurin Protein Required for Increase of Cone Electroretinogram B-Wave during Light Adaptation
data suggest the existence of post-translational cleavage of pikachurin protein as well as the extracellular localization of cleaved protein specifically by retinal cells
These results indicate that pikachurin interactions with alpha-dystroglycan and its localization at the photoreceptor ribbon synapse require normal glycosylation of alpha-dystroglycan.
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization.
Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).
EGF-like, fibronectin type-III and laminin G-like domain-containing protein
, agrin-like protein