Associated Papers
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
Kuehlewein L et al.
Investigative Ophthalmology & Visual Science, 2022
New focus on regulation of the rod photoreceptor phosphodiesterase.
Gulati S et al.
Current Opinion in Structural Biology, 2021
Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy.
Crouzier L et al.
Frontiers in Cell and Developmental Biology, 2021
Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.
Dawood M et al.
International Journal of Ophthalmology, 2021
Cellular mechanisms of hereditary photoreceptor degeneration - Focus on cGMP.
Power M et al.
Progress in Retinal and Eye Research, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
The Molecular Organization of Human cGMP Specific Phosphodiesterase 6 (PDE6): Structural Implications of Somatic Mutations in Cancer and Retinitis Pigmentosa.
Maryam A et al.
Computational and Structural Biotechnology Journal, 2019
Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.
Petersen-Jones SM et al.
Advances in Experimental Medicine and Biology, 2019
Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43).
Schön C et al.
Human Gene Therapy, 2017
Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations.
Jiao K et al.
Cell Death Discovery, 2016
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.
Ullah I et al.
Human Genome Variation, 2016
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V et al.
Human Molecular Genetics, 2015
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.
Nair P et al.
Oman Journal of Ophthalmology, 0