Associated Papers
[Role of endosomal pathway in the ciliary transport and the membrane organization of outer segment disc membrane in photoreceptors].
Otsu W
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2024
Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.
Gopinath C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Sato T et al.
Acta Ophthalmologica, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation.
Ruppert M et al.
Case Reports in Genetics, 2020
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
Katagiri S et al.
Ophthalmic Genetics, 2018
PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
Stuck MW et al.
Progress in Retinal and Eye Research, 2016
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
Becirovic E et al.
Plos Genetics, 2016
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.
Chakraborty D et al.
The Febs Journal, 2013
Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.
Fakin A et al.
Vision Research, 2012
Structural and functional relationships between photoreceptor tetraspanins and other superfamily members.
Conley SM et al.
Cellular and Molecular Life Sciences : Cmls, 2012
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Conley SM et al.
Biochemistry, 2010
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation.
Conley S et al.
Investigative Ophthalmology & Visual Science, 2007
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS.
Nakazawa M et al.
Current Eye Research, 1997
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Bareil C et al.
Ophthalmic Genetics, 1997
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U et al.
Human Mutation, 1997
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ et al.
Human Mutation, 1996
The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.
Evans K et al.
Eye (london, England), 1995
Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.
Nakazawa M et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 1994
Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
Nakazawa M et al.
Human Molecular Genetics, 1994
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
Kikawa E et al.
Genomics, 1994