FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1969139433> ?p ?o ?g. }

• W1969139433 endingPage "88" @default.
• W1969139433 startingPage "82" @default.
• W1969139433 abstract "To localize and identify the gene linked with non-syndromic autosomal dominant retinitis pigmentosa (adRP) with high but not complete penetrance in an Indian family. A detailed family history and clinical data were recorded. A genome-wide scan by 2-point linkage analysis using nearly 400 fluorescently labeled microsatellite markers in combination with multipoint lod score and haplotype analysis was carried out. Mutation screening was performed in the candidate gene by bidirectional sequence analysis of the amplified products. A maximum 2-point lod score of 3.553 at theta = 0.0 was obtained with marker D19S572. Haplotype analysis placed the RP locus distal to marker D19S572, in close proximity to the gene for pre-mRNA processing factor 31 (PRPF31) at 19q13.42. Mutation screening in all 14 exonic regions and adjacent flanking intronic sequences of PRPF31 revealed a novel 7 bp deletion, c.59_65del7 (p.Gly20AlafsX43), in the first coding exon of PRPF31. This leads to a premature termination codon (PTC) in the next exon, 43 amino acids downstream. The observed 7 bp deletion in PRPF31 was identified in all the tested 10 affected members and in an unaffected individual, consistent with a high, but not the complete penetrance of c.59_65del7 (p.Gly20AlafsX43). This deletion was not observed in other tested six unaffected family members or in 100 ethnically matched control subjects. The present study describes mapping of a locus for non-syndromic adRP at 19q13.42 (RP11 locus) in a family of Indian origin and identifies a novel deletion, c.59_65del7, in PRPF31 within the mapped interval. Since the mutant PRPF31 is truncated relatively close to the N-terminus of the protein, haploinsufficiency rather than aberrant protein formation is likely to be the underlying mechanism of the disease. The present findings further substantiate the role of PRPF31 that encodes a component of the spliceosome complex in relation to ADRP." @default.
• W1969139433 created "2016-06-24" @default.
• W1969139433 creator A5018358392 @default.
• W1969139433 creator A5033225381 @default.
• W1969139433 creator A5062010372 @default.
• W1969139433 creator A5087954159 @default.
• W1969139433 date "2012-11-01" @default.
• W1969139433 modified "2023-10-18" @default.
• W1969139433 title "A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family" @default.
• W1969139433 cites W1965265115 @default.
• W1969139433 cites W1966156338 @default.
• W1969139433 cites W1967387655 @default.
• W1969139433 cites W1985804412 @default.
• W1969139433 cites W1986925219 @default.
• W1969139433 cites W1987585879 @default.
• W1969139433 cites W1988485709 @default.
• W1969139433 cites W1992860553 @default.
• W1969139433 cites W2011920499 @default.
• W1969139433 cites W2014713739 @default.
• W1969139433 cites W2015087800 @default.
• W1969139433 cites W2021812366 @default.
• W1969139433 cites W2051497990 @default.
• W1969139433 cites W2052585139 @default.
• W1969139433 cites W2063037650 @default.
• W1969139433 cites W2070653175 @default.
• W1969139433 cites W2080654534 @default.
• W1969139433 cites W2083600363 @default.
• W1969139433 cites W2085824880 @default.
• W1969139433 cites W2113525941 @default.
• W1969139433 cites W2128023490 @default.
• W1969139433 cites W2128453886 @default.
• W1969139433 cites W2136942244 @default.
• W1969139433 cites W2139298839 @default.
• W1969139433 cites W2148362725 @default.
• W1969139433 cites W2151153698 @default.
• W1969139433 cites W2154826595 @default.
• W1969139433 cites W2155335817 @default.
• W1969139433 cites W2162650178 @default.
• W1969139433 cites W2977704883 @default.
• W1969139433 doi "https://doi.org/10.1016/j.exer.2012.09.010" @default.
• W1969139433 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23041261" @default.
• W1969139433 hasPublicationYear "2012" @default.
• W1969139433 type Work @default.
• W1969139433 sameAs 1969139433 @default.
• W1969139433 citedByCount "20" @default.
• W1969139433 countsByYear W19691394332013 @default.
• W1969139433 countsByYear W19691394332014 @default.
• W1969139433 countsByYear W19691394332015 @default.
• W1969139433 countsByYear W19691394332016 @default.
• W1969139433 countsByYear W19691394332017 @default.
• W1969139433 countsByYear W19691394332018 @default.
• W1969139433 countsByYear W19691394332020 @default.
• W1969139433 countsByYear W19691394332021 @default.
• W1969139433 countsByYear W19691394332022 @default.
• W1969139433 crossrefType "journal-article" @default.
• W1969139433 hasAuthorship W1969139433A5018358392 @default.
• W1969139433 hasAuthorship W1969139433A5033225381 @default.
• W1969139433 hasAuthorship W1969139433A5062010372 @default.
• W1969139433 hasAuthorship W1969139433A5087954159 @default.
• W1969139433 hasConcept C104317684 @default.
• W1969139433 hasConcept C127716648 @default.
• W1969139433 hasConcept C135763542 @default.
• W1969139433 hasConcept C142870003 @default.
• W1969139433 hasConcept C176944494 @default.
• W1969139433 hasConcept C180754005 @default.
• W1969139433 hasConcept C197754878 @default.
• W1969139433 hasConcept C200544954 @default.
• W1969139433 hasConcept C2781114197 @default.
• W1969139433 hasConcept C36823959 @default.
• W1969139433 hasConcept C501734568 @default.
• W1969139433 hasConcept C54355233 @default.
• W1969139433 hasConcept C61320498 @default.
• W1969139433 hasConcept C63971535 @default.
• W1969139433 hasConcept C64618202 @default.
• W1969139433 hasConcept C84597430 @default.
• W1969139433 hasConcept C86803240 @default.
• W1969139433 hasConceptScore W1969139433C104317684 @default.
• W1969139433 hasConceptScore W1969139433C127716648 @default.
• W1969139433 hasConceptScore W1969139433C135763542 @default.
• W1969139433 hasConceptScore W1969139433C142870003 @default.
• W1969139433 hasConceptScore W1969139433C176944494 @default.
• W1969139433 hasConceptScore W1969139433C180754005 @default.
• W1969139433 hasConceptScore W1969139433C197754878 @default.
• W1969139433 hasConceptScore W1969139433C200544954 @default.
• W1969139433 hasConceptScore W1969139433C2781114197 @default.
• W1969139433 hasConceptScore W1969139433C36823959 @default.
• W1969139433 hasConceptScore W1969139433C501734568 @default.
• W1969139433 hasConceptScore W1969139433C54355233 @default.
• W1969139433 hasConceptScore W1969139433C61320498 @default.
• W1969139433 hasConceptScore W1969139433C63971535 @default.
• W1969139433 hasConceptScore W1969139433C64618202 @default.
• W1969139433 hasConceptScore W1969139433C84597430 @default.
• W1969139433 hasConceptScore W1969139433C86803240 @default.
• W1969139433 hasLocation W19691394331 @default.
• W1969139433 hasLocation W19691394332 @default.
• W1969139433 hasOpenAccess W1969139433 @default.
• W1969139433 hasPrimaryLocation W19691394331 @default.
• W1969139433 hasRelatedWork W1515332521 @default.

• next