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Conley, Shannon

One or more keywords matched the following items that are connected to Conley, Shannon

Item Type	Name
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Academic Article	Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.
Academic Article	Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
Academic Article	PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Academic Article	Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.
Academic Article	Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa.
Academic Article	Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Academic Article	The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
Academic Article	Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.
Academic Article	RDS Functional Domains and Dysfunction in Disease.
Academic Article	Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation.
Academic Article	Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Academic Article	The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.
Academic Article	ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Academic Article	Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration.
Academic Article	Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.
Academic Article	Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa.
Academic Article	Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Academic Article	Novel molecular mechanisms for Prph2-associated pattern dystrophy.
Grant	The role of the photoreceptor tetraspanin Rds in outer segment morphogenesis
Academic Article	Prph2 disease mutations lead to structural and functional defects in the RPE.
Academic Article	Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Academic Article	Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.
Academic Article	ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.

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Mutation