Matches in SemOpenAlex for { <https://semopenalex.org/work/W2901757541> ?p ?o ?g. }
- W2901757541 endingPage "24" @default.
- W2901757541 startingPage "12" @default.
- W2901757541 abstract "Abstract Muscle contractures are a common complication to cerebral palsy (CP). The purpose of this study was to evaluate whether individuals with CP carry specific gene variants of important structural genes that might explain the severity of muscle contractures. Next‐generation‐sequencing (NGS) of 96 candidate genes associated with muscle structure and metabolism were analyzed in 43 individuals with CP (Gross Motor Function classification system [GMFCS] I, n =10; GMFCS II, n =14; GMFCS III, n =19) and four control participants. In silico analysis of the identified variants was performed. The variants were classified into four categories ranging from likely benign (VUS0) to highly likely functional effect (VUS3). All individuals with CP were classified and grouped according to their GMFCS level: Statistical comparisons were made between GMFCS groups. Kruskal‐Wallis tests showed significantly more VUS2 variants in the genes COL4 (GMFCS I–III; 1, 1, 5, respectively [ p < .04]), COL5 (GMFCS I–III; 1, 1, 5 [ p < .04]), COL6 (GMFCS I–III; 0, 4, 7 [ p < .003]), and COL9 (GMFCS I–III; 1, 1, 5 [ p < .04]), in individuals with CP within GMFCS Level III when compared to the other GMFCS levels. Furthermore, significantly more VUS3 variants in COL6 (GMFCS I–III; 0, 5, 2 [ p < .01]) and COL7 (GMFCS I–III; 0, 3, 0 [ p < .04]) were identified in the GMFCS II level when compared to the other GMFCS levels. The present results highlight several candidate gene variants in different collagen types with likely functional effects in individuals with CP." @default.
- W2901757541 created "2018-11-29" @default.
- W2901757541 creator A5012318647 @default.
- W2901757541 creator A5016287139 @default.
- W2901757541 creator A5027227970 @default.
- W2901757541 creator A5041622998 @default.
- W2901757541 creator A5045227236 @default.
- W2901757541 creator A5051358567 @default.
- W2901757541 creator A5054073081 @default.
- W2901757541 creator A5054449359 @default.
- W2901757541 creator A5087755194 @default.
- W2901757541 creator A5089358060 @default.
- W2901757541 date "2018-11-23" @default.
- W2901757541 modified "2023-09-26" @default.
- W2901757541 title "Sequence variants in muscle tissue-related genes may determine the severity of muscle contractures in cerebral palsy" @default.
- W2901757541 cites W1479896998 @default.
- W2901757541 cites W1525484196 @default.
- W2901757541 cites W1558594810 @default.
- W2901757541 cites W1569163094 @default.
- W2901757541 cites W1595606899 @default.
- W2901757541 cites W1824729234 @default.
- W2901757541 cites W1838602924 @default.
- W2901757541 cites W1900859494 @default.
- W2901757541 cites W1964196602 @default.
- W2901757541 cites W1964644704 @default.
- W2901757541 cites W1975606849 @default.
- W2901757541 cites W1982213652 @default.
- W2901757541 cites W1982285143 @default.
- W2901757541 cites W1989378710 @default.
- W2901757541 cites W1989736688 @default.
- W2901757541 cites W1994177880 @default.
- W2901757541 cites W1995035136 @default.
- W2901757541 cites W2001927904 @default.
- W2901757541 cites W2006401112 @default.
- W2901757541 cites W2007630937 @default.
- W2901757541 cites W2016205146 @default.
- W2901757541 cites W2016283013 @default.
- W2901757541 cites W2025419314 @default.
- W2901757541 cites W2048035463 @default.
- W2901757541 cites W2048642192 @default.
- W2901757541 cites W2051978340 @default.
- W2901757541 cites W2053315297 @default.
- W2901757541 cites W2060570918 @default.
- W2901757541 cites W2061401964 @default.
- W2901757541 cites W2065067440 @default.
- W2901757541 cites W2077457304 @default.
- W2901757541 cites W2080021780 @default.
- W2901757541 cites W2081117498 @default.
- W2901757541 cites W2081362050 @default.
- W2901757541 cites W2082432121 @default.
- W2901757541 cites W2086949096 @default.
- W2901757541 cites W2097660745 @default.
- W2901757541 cites W2099702600 @default.
- W2901757541 cites W2099970700 @default.
- W2901757541 cites W2102619694 @default.
- W2901757541 cites W2103441770 @default.
- W2901757541 cites W2104461741 @default.
- W2901757541 cites W2106149075 @default.
- W2901757541 cites W2112001822 @default.
- W2901757541 cites W2116887525 @default.
- W2901757541 cites W2123564531 @default.
- W2901757541 cites W2125580534 @default.
- W2901757541 cites W2128016314 @default.
- W2901757541 cites W2130036778 @default.
- W2901757541 cites W2130237390 @default.
- W2901757541 cites W2134109459 @default.
- W2901757541 cites W2137779717 @default.
- W2901757541 cites W2139872073 @default.
- W2901757541 cites W2154401382 @default.
- W2901757541 cites W2158875909 @default.
- W2901757541 cites W2160995259 @default.
- W2901757541 cites W2162863529 @default.
- W2901757541 cites W2163721943 @default.
- W2901757541 cites W2164004777 @default.
- W2901757541 cites W2168896332 @default.
- W2901757541 cites W2169164452 @default.
- W2901757541 cites W2169590742 @default.
- W2901757541 cites W2169841603 @default.
- W2901757541 cites W2197115587 @default.
- W2901757541 cites W2211285608 @default.
- W2901757541 cites W2223408969 @default.
- W2901757541 cites W2259378275 @default.
- W2901757541 cites W2334829352 @default.
- W2901757541 cites W2347169701 @default.
- W2901757541 cites W2535025791 @default.
- W2901757541 cites W2552368969 @default.
- W2901757541 cites W2607060296 @default.
- W2901757541 cites W2609745891 @default.
- W2901757541 cites W2620403372 @default.
- W2901757541 cites W2755364860 @default.
- W2901757541 cites W2758689124 @default.
- W2901757541 cites W2765382385 @default.
- W2901757541 cites W2770028607 @default.
- W2901757541 cites W2794106553 @default.
- W2901757541 cites W2952858088 @default.
- W2901757541 cites W4248413699 @default.
- W2901757541 cites W4255490846 @default.
- W2901757541 doi "https://doi.org/10.1002/ajmg.b.32693" @default.