Associated Papers
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Damodar K et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.
Bianco L et al.
American Journal of Ophthalmology, 2024
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study.
Burstedt M et al.
Investigative Ophthalmology & Visual Science, 2023
Structure of the Sec14 domain of Kalirin reveals a distinct class of lipid-binding module in RhoGEFs.
Li Y et al.
Nature Communications, 2023
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K et al.
Plos One, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
Bocquet B et al.
Ophthalmology Science, 2021
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.
Torres-Costa S et al.
European Journal of Ophthalmology, 2021
Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
Lima de Carvalho JR et al.
The Journal of Biological Chemistry, 2020
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Non-syndromic retinitis pigmentosa.
Verbakel SK et al.
Progress in Retinal and Eye Research, 2018
Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.
Winkler TW et al.
Plos One, 2018
A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.
Scimone C et al.
Human Genomics, 2017
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Hipp S et al.
Acta Ophthalmologica, 2015
Human cellular retinaldehyde-binding protein has secondary thermal 9-cis-retinal isomerase activity.
Bolze CS et al.
Journal of the American Chemical Society, 2014
Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M et al.
Acta Ophthalmologica, 2013
Impaired α-TTP-PIPs interaction underlies familial vitamin E deficiency.
Kono N et al.
Science (new York, N.y.), 2013
Clinical features of a Japanese case with Bothnia dystrophy.
Nojima K et al.
Ophthalmic Genetics, 2012
Molecular clues to Bothnia-type retinal dystrophy.
He X et al.
Advances in Experimental Medicine and Biology, 2012
Structural and functional protein network analyses predict novel signaling functions for rhodopsin.
Kiel C et al.
Molecular Systems Biology, 2011
Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
Burstedt MS et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.
Golovleva I et al.
Advances in Experimental Medicine and Biology, 2010
Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.
He X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
Köhn L et al.
Investigative Ophthalmology & Visual Science, 2008
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Humbert G et al.
Investigative Ophthalmology & Visual Science, 2006
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
Nakamura M et al.
American Journal of Ophthalmology, 2005
Retinal function in Bothnia dystrophy. An electrophysiological study.
Burstedt MS et al.
Vision Research, 2003
Genetic defects in vitamin A metabolism of the retinal pigment epithelium.
Thompson DA et al.
Developments in Ophthalmology, 2003
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Eichers ER et al.
American Journal of Human Genetics, 2002
Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene.
Gränse L et al.
Ophthalmic Genetics, 2001
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Burstedt MS et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2001
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Burstedt MS et al.
Investigative Ophthalmology & Visual Science, 1999
[Pigmented paravenous dystrophy of the retina].
Hegyiová M
Ceskoslovenska Oftalmologie, 1977
[Study of the pedigree of a family with pigmented degeneration of the retina].
Sonoda Y
Nihon Ganka Kiyo, 1967
Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis.
Hwang JC et al.
Retina (philadelphia, Pa.), 0