Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313245110> ?p ?o ?g. }
- W4313245110 endingPage "32" @default.
- W4313245110 startingPage "32" @default.
- W4313245110 abstract "Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal curvature deformity that appears in the adolescent period. In this study, we performed whole-exome sequencing on 11 unrelated Taiwanese patients with a Cobb's angle greater than 40 degrees. Our results identified more than 200 potential pathogenic rare variants, however, most of which were carried only by one individual. By in silico pathogenicity annotation studies, we found that TTN, CLCN1, and SOX8 were the most important genes, as multiple pathogenic variants were within these genes. Furthermore, biological functional annotation indicated critical roles of these AIS candidate genes in the skeletal muscle. Importantly, a pathogenic variant on SOX8 was shared by over 35% of the patients. These results highlighted TTN, CLCN1, and SOX8 as the most likely susceptibility genes for severe AIS." @default.
- W4313245110 created "2023-01-06" @default.
- W4313245110 creator A5002002486 @default.
- W4313245110 creator A5015693631 @default.
- W4313245110 creator A5016821770 @default.
- W4313245110 creator A5026991896 @default.
- W4313245110 creator A5028757260 @default.
- W4313245110 creator A5036154579 @default.
- W4313245110 creator A5052416991 @default.
- W4313245110 creator A5055657131 @default.
- W4313245110 creator A5056508349 @default.
- W4313245110 creator A5061342425 @default.
- W4313245110 creator A5073823436 @default.
- W4313245110 date "2022-12-23" @default.
- W4313245110 modified "2023-10-14" @default.
- W4313245110 title "Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population" @default.
- W4313245110 cites W1481510821 @default.
- W4313245110 cites W1875883743 @default.
- W4313245110 cites W1971692712 @default.
- W4313245110 cites W1982700114 @default.
- W4313245110 cites W1984936338 @default.
- W4313245110 cites W1991019220 @default.
- W4313245110 cites W2017965913 @default.
- W4313245110 cites W2035974071 @default.
- W4313245110 cites W2052902484 @default.
- W4313245110 cites W2063434418 @default.
- W4313245110 cites W2087455615 @default.
- W4313245110 cites W2103017472 @default.
- W4313245110 cites W2104549677 @default.
- W4313245110 cites W2108348061 @default.
- W4313245110 cites W2114080032 @default.
- W4313245110 cites W2123360620 @default.
- W4313245110 cites W2126434293 @default.
- W4313245110 cites W2140850838 @default.
- W4313245110 cites W2143584822 @default.
- W4313245110 cites W2145825942 @default.
- W4313245110 cites W2159482845 @default.
- W4313245110 cites W2164389373 @default.
- W4313245110 cites W2165327863 @default.
- W4313245110 cites W2199058166 @default.
- W4313245110 cites W2488744541 @default.
- W4313245110 cites W2507910676 @default.
- W4313245110 cites W2538699787 @default.
- W4313245110 cites W2557981253 @default.
- W4313245110 cites W2558561644 @default.
- W4313245110 cites W2750048566 @default.
- W4313245110 cites W2900130379 @default.
- W4313245110 cites W2900856486 @default.
- W4313245110 cites W2942520586 @default.
- W4313245110 cites W2946173685 @default.
- W4313245110 cites W2959965869 @default.
- W4313245110 cites W2963444764 @default.
- W4313245110 cites W3016123397 @default.
- W4313245110 cites W3029661147 @default.
- W4313245110 cites W3112600195 @default.
- W4313245110 cites W3118555634 @default.
- W4313245110 cites W3127157887 @default.
- W4313245110 cites W3165081340 @default.
- W4313245110 cites W4294216483 @default.
- W4313245110 cites W63407547 @default.
- W4313245110 doi "https://doi.org/10.3390/jpm13010032" @default.
- W4313245110 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36675693" @default.
- W4313245110 hasPublicationYear "2022" @default.
- W4313245110 type Work @default.
- W4313245110 citedByCount "1" @default.
- W4313245110 countsByYear W43132451102023 @default.
- W4313245110 crossrefType "journal-article" @default.
- W4313245110 hasAuthorship W4313245110A5002002486 @default.
- W4313245110 hasAuthorship W4313245110A5015693631 @default.
- W4313245110 hasAuthorship W4313245110A5016821770 @default.
- W4313245110 hasAuthorship W4313245110A5026991896 @default.
- W4313245110 hasAuthorship W4313245110A5028757260 @default.
- W4313245110 hasAuthorship W4313245110A5036154579 @default.
- W4313245110 hasAuthorship W4313245110A5052416991 @default.
- W4313245110 hasAuthorship W4313245110A5055657131 @default.
- W4313245110 hasAuthorship W4313245110A5056508349 @default.
- W4313245110 hasAuthorship W4313245110A5061342425 @default.
- W4313245110 hasAuthorship W4313245110A5073823436 @default.
- W4313245110 hasBestOaLocation W43132451101 @default.
- W4313245110 hasConcept C104317684 @default.
- W4313245110 hasConcept C16671776 @default.
- W4313245110 hasConcept C2775905019 @default.
- W4313245110 hasConcept C2780955175 @default.
- W4313245110 hasConcept C501734568 @default.
- W4313245110 hasConcept C54355233 @default.
- W4313245110 hasConcept C60644358 @default.
- W4313245110 hasConcept C69991583 @default.
- W4313245110 hasConcept C70721500 @default.
- W4313245110 hasConcept C71924100 @default.
- W4313245110 hasConcept C86803240 @default.
- W4313245110 hasConceptScore W4313245110C104317684 @default.
- W4313245110 hasConceptScore W4313245110C16671776 @default.
- W4313245110 hasConceptScore W4313245110C2775905019 @default.
- W4313245110 hasConceptScore W4313245110C2780955175 @default.
- W4313245110 hasConceptScore W4313245110C501734568 @default.
- W4313245110 hasConceptScore W4313245110C54355233 @default.
- W4313245110 hasConceptScore W4313245110C60644358 @default.
- W4313245110 hasConceptScore W4313245110C69991583 @default.