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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2017, Volume 58, Issue 14, pp. 6342 - 6350
PURPOSE. The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations. METHODS.... 
PRPF31 | Mutation | Localization | Retinitis pigmentosa | Whole-exome sequencing | localization | mutation | PENETRANCE | retinitis pigmentosa | GENE-EXPRESSION | OPHTHALMOLOGY | whole-exome sequencing | HAPLOINSUFFICIENCY | Index Medicus
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 07/2018, Volume 103, Issue 6, pp. 761 - 767
Background Variants in PRPF31, which encodes pre-mRNA processing factor 31 homolog, are known to cause autosomal-dominant retinitis pigmentosa (adRP) with... 
retinitis pigmentosa | genetic diagnosis | PRPF31 gene | PENETRANCE | PRP31 | GENE | OPHTHALMOLOGY | ASYMPTOMATIC PATIENTS | EXPRESSION | DOMINANT RETINITIS-PIGMENTOSA | PRPF31gene | Clinical Science | 1506
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 01/2014, Volume 78, Issue 1, pp. 62 - 71
Mutations in PRPF31 are responsible for autosomal dominant retinitis pigmentosa (adRP, RP11 form) and affected families show nonpenetrance. Differential... 
retinitis pigmentosa | PRPF31 | epistasis | CNOT3 | Short Communication
Journal Article
by Wu, Z and Zhong, M and Li, M and Huang, H and Liao, J and Lu, A and Guo, K and Ma, N and Lin, J and Duan, J and Liu, L and Xu, F and Zhong, Z and Chen, J
CURRENT MOLECULAR MEDICINE, ISSN 1566-5240, 2018, Volume 18, Issue 6, pp. 287 - 294
Background: To screen variants in pre-mRNA Splicing genes in 95 Chinese autosomal dominant retinitis pigmentosa (adRP) families. Methods: Clinical examination... 
MEDICINE, RESEARCH & EXPERIMENTAL | splicing factors | PENETRANCE | PROTEIN | Retinitis pigmentosa | variant | PRPF31 | PREVALENCE | SNRNP200 | PRPF8 | ASSOCIATION
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 08/2018, Volume 119, Issue 8, pp. 6775 - 6783
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2018, Volume 11, Issue 1, pp. 31 - 35
AIM: To study the genes responsible for retinitis pigmentosa.METHODS: A total of 15 Chinese families with retinitis pigmentosa, containing 94 sporadically... 
Retinitis pigmentosa | BGISEQ-500 | PRPF31 | INCOMPLETE PENETRANCE | CHINESE | DEGENERATION | FAMILY | RNA SPLICING-FACTOR | MESSENGER-RNA | FACTOR GENE PRPF31 | retinitis pigmentosa | OPHTHALMOLOGY | DISEASE MECHANISM | EXPRESSION
Journal Article
Japanese Journal of Ophthalmology, ISSN 0021-5155, 3/2018, Volume 62, Issue 2, pp. 186 - 193
Journal Article
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 04/2019, Volume 200, pp. 76 - 84
Variants in , a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by... 
MESSENGER-RNA | OPTICAL COHERENCE TOMOGRAPHY | FAMILIES | GENES | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | PRPF31 | MUTATIONS | EXPRESSION | CELL-DEATH | HAPLOINSUFFICIENCY | Retinitis pigmentosa | Development and progression | Proteins | Statistical analysis | Retina | Genetic testing | Mutation | Ophthalmology | Patients | Deoxyribonucleic acid--DNA | Age
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 11/2017, Volume 27, Issue 6, pp. 791 - 796
Purpose: To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP). Methods: A detailed clinical examination was performed on... 
Targeted next-generation sequencing | Retinitis pigmentosa | PRPF31 | GENES | ROM1 | OPHTHALMOLOGY | PERIPHERIN/RDS | FAMILY
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, pp. 32792 - 32792
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The prevalence of RP and the mutation spectrum vary across populations.... 
GENE-MUTATIONS | SPANISH PATIENTS | PENETRANCE | FAMILIES | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | PRPF31 | JAPANESE PATIENTS | IDENTIFICATION | ASSOCIATION | DEGENERATION | Splicing | Retinitis pigmentosa | Alleles | Retina | Retinitis | Mutation | Population genetics | Hispanics | Index Medicus
Journal Article
by Wu, Z and Zhong, M and Li, M and Huang, H and Liao, J and Lu, A and Guo, K and Ma, N and Lin, J and Duan, J and Liu, L and Xu, F and Zhong, Z and Chen, J
Current Molecular Medicine, ISSN 1566-5240, 2018, Volume 18, Issue 5, pp. 287 - 294
Background: To screen variants in pre-mRNA Splicing genes in 95 Chinese autosomal dominant retinitis pigmentosa (adRP) families. Methods: Clinical examination... 
Variant | PRPF31 | SNRNP200 | Retinitis pigmentosa | PRPF8 | Splicing factors | MEDICINE, RESEARCH & EXPERIMENTAL | splicing factors | PENETRANCE | PROTEIN | variant | PREVALENCE | ASSOCIATION | Pathogens | Phenotypes | Splicing | Genes | mRNA | Gene sequencing | Proteins | Pathogenicity | Pedigree | Retinitis | Deoxyribonucleic acid--DNA
Journal Article
by Dong, B and Chen, JQ and Zhang, XH and Pan, Z and Bai, FG and Li, Y
MOLECULAR VISION, ISSN 1090-0535, 11/2013, Volume 19, pp. 2426 - 2435
Objective: To identify the causative mutations in two Chinese families with retinitis pigmentosa (RP), and to describe the associated phenotype. Methods:... 
ALLELE | RNA SPLICING-FACTOR | MESSENGER-RNA | INCOMPLETE PENETRANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | RP11 | PHENOTYPE | OPHTHALMOLOGY | GENE PRPF31 | 19Q13.42
Journal Article