Titlebook: Advances in Vision Research, Volume IV; From Basic to Transl Gyan Prakash,Takeshi Iwata Book 2024 This is a U.S. government work and not un

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Establishment of the Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Disease Variant urated variants of these X-linked IRD genes will be used as the standard for molecular diagnosis of patient variants. In this chapter, we describe the purpose of this ClinGen VCEP and outline strategies of establishing the curation rules.

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Multifunctional Proteins and Alternative Translation: Functional Diversification of BetaA3/A1-Crystrms are functionally different, and that their functions are also cell- and context-dependent. In this chapter, we review the most recent findings on the evolution and functional diversity of βA3/A1-crystallin and discuss the significance of this multifunctional protein for ocular translational research.

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Perceptive Fields and the Study of Inherited Retinal Degeneration,‘receptive fields’, a cellular measure. The existing link between these two measures offers a unique approach to understand the pathological changes associated with inherited retinal dystrophies and helps the design of new therapeutic approaches.

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