Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa

No abstract is available for this paper.

• Publication year

  2018

• Venue

  Japanese Journal of Ophthalmology

• Publication date

  2018-01-05

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/s10384-017-0560-7PMID 29305715
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

  2017cited by this paper
• Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort

  2016cited by this paper
• Course of Ocular Function in PRPF31 Retinitis Pigmentosa

  2016cited by this paper
• Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

  2016cited by this paper
• Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

  2015cited by this paper
• Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa

  2015cited by this paper
• Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

  2015cited by this paper
• Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa

  2014cited by this paper
• Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene

  2014cited by this paper
• Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

  2014cited by this paper
• PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

  2014cited by this paper
• Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

  2013cited by this paper
• Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients

  2012cited by this paper
• Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

  2012cited by this paper
• Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

  2011cited by this paper
• PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

  2011cited by this paper
• A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

  2011cited by this paper
• Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

  2010cited by this paper
• ISCEV Standard for full-field clinical electroretinography (2008 update)

  2009cited by this paper
• Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

  2008cited by this paper
• Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India

  2008cited by this paper
• Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

  2007cited by this paper
• Retinitis pigmentosa.

  2006cited by this paper
• A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

  2006cited by this paper
• Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

  2006cited by this paper
• Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.

  2005cited by this paper
• Mutations in PRPF31 Inhibit Pre-mRNA Splicing of Rhodopsin Gene and Cause Apoptosis of Retinal Cells

  2005cited by this paper
• Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

  2003cited by this paper
• Small Nuclear Ribonucleoprotein Remodeling During Catalytic Activation of the Spliceosome

  2002cited by this paper
• Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6·U5 tri‐snRNP formation and pre‐mRNA splicing

  2002cited by this paper
• Differential occurrence of mutations causative of eye diseases in the Chinese population

  2002cited by this paper
• Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

  1996cited by this paper
• A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

  1996cited by this paper
• [Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa].

  1992cited by this paper
• Retinitis Pigmentosa

  1941cited by this paper

• Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy.

  2024cites this paper
• Ocular genetics in the Japanese population

  2024cites this paper
• Retinal Neurovascular Impairment in Full-Course Diabetic Retinopathy: The Guangdong Diabetic Retinopathy Multiple-Omics Study

  2024cites this paper
• Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy

  2020cites this paper
• Direct comparison of retinal structure and function in retinitis pigmentosa by co-registering microperimetry and optical coherence tomography

  2019cites this paper