Matches in SemOpenAlex for { <https://semopenalex.org/work/W3035629218> ?p ?o ?g. }
- W3035629218 endingPage "1131" @default.
- W3035629218 startingPage "1117" @default.
- W3035629218 abstract "Abstract Objective Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large‐scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify novel candidate genes for NDDs. Methods We performed exome sequencing of 95 patients with NDDs including 51 with trigonocephaly and subsequent targeted sequencing of additional 463 NDD patients, functional analyses of variant in vitro, and evaluations of autism spectrum disorder (ASD)‐like phenotypes and seizure‐related phenotypes in vivo . Results We identified de novo truncation variants in nine novel genes; CYP1A1 , C14orf119 , FLI1 , CYB5R4 , SEL1L2, RAB11FIP2, ZMYND8, ZNF143, and MSX2. MSX2 variants have been described in patients with cranial malformations, and our present patient with the MSX2 de novo truncation variant showed cranial meningocele and partial epilepsy. MSX2 protein is known to be ubiquitinated by an E3 ubiquitin ligase PJA1, and interestingly we found a PJA1 hemizygous p.Arg376Cys variant recurrently in seven Japanese NDD patients; five with trigonocephaly and one with partial epilepsy, and the variant was absent in 886 Japanese control individuals. Pja1 knock‐in mice carrying p.Arg365Cys, which is equivalent to p.Arg376Cys in human, showed a significant decrease in PJA1 protein amount, suggesting a loss‐of‐function effect of the variant. Pja1 knockout mice displayed moderate deficits in isolation‐induced ultrasonic vocalizations and increased seizure susceptibility to pentylenetetrazole. Interpretation These findings propose novel candidate genes including PJA1 and MSX2 for NDDs associated with craniofacial abnormalities and/or epilepsy." @default.
- W3035629218 created "2020-06-19" @default.
- W3035629218 creator A5001942683 @default.
- W3035629218 creator A5008322323 @default.
- W3035629218 creator A5016021033 @default.
- W3035629218 creator A5026606410 @default.
- W3035629218 creator A5026728831 @default.
- W3035629218 creator A5028536413 @default.
- W3035629218 creator A5030867912 @default.
- W3035629218 creator A5031165816 @default.
- W3035629218 creator A5032263781 @default.
- W3035629218 creator A5039128309 @default.
- W3035629218 creator A5042278938 @default.
- W3035629218 creator A5045525134 @default.
- W3035629218 creator A5046891291 @default.
- W3035629218 creator A5052157002 @default.
- W3035629218 creator A5055063676 @default.
- W3035629218 creator A5061632695 @default.
- W3035629218 creator A5064095392 @default.
- W3035629218 creator A5068354501 @default.
- W3035629218 creator A5069592228 @default.
- W3035629218 creator A5069830757 @default.
- W3035629218 creator A5072253152 @default.
- W3035629218 creator A5072607053 @default.
- W3035629218 creator A5073691415 @default.
- W3035629218 creator A5074008074 @default.
- W3035629218 creator A5074948910 @default.
- W3035629218 creator A5084703720 @default.
- W3035629218 creator A5085467135 @default.
- W3035629218 creator A5085932011 @default.
- W3035629218 creator A5087428471 @default.
- W3035629218 date "2020-06-12" @default.
- W3035629218 modified "2023-10-17" @default.
- W3035629218 title "A recurrent <i>PJA1</i> variant in trigonocephaly and neurodevelopmental disorders" @default.
- W3035629218 cites W1489648704 @default.
- W3035629218 cites W1541819796 @default.
- W3035629218 cites W1585995761 @default.
- W3035629218 cites W1749057191 @default.
- W3035629218 cites W1880027388 @default.
- W3035629218 cites W1981146437 @default.
- W3035629218 cites W1982904761 @default.
- W3035629218 cites W1984068087 @default.
- W3035629218 cites W1988670106 @default.
- W3035629218 cites W2002654818 @default.
- W3035629218 cites W2017398416 @default.
- W3035629218 cites W2024313944 @default.
- W3035629218 cites W2032566422 @default.
- W3035629218 cites W2033645413 @default.
- W3035629218 cites W2034514059 @default.
- W3035629218 cites W2034680878 @default.
- W3035629218 cites W2064815984 @default.
- W3035629218 cites W2071797996 @default.
- W3035629218 cites W2072160012 @default.
- W3035629218 cites W2073032316 @default.
- W3035629218 cites W2074244952 @default.
- W3035629218 cites W2087321947 @default.
- W3035629218 cites W2092933789 @default.
- W3035629218 cites W2103861118 @default.
- W3035629218 cites W2107360029 @default.
- W3035629218 cites W2120610492 @default.
- W3035629218 cites W2138033133 @default.
- W3035629218 cites W2142546000 @default.
- W3035629218 cites W2153617971 @default.
- W3035629218 cites W2153810829 @default.
- W3035629218 cites W2157702138 @default.
- W3035629218 cites W2159184264 @default.
- W3035629218 cites W2168133698 @default.
- W3035629218 cites W2170039745 @default.
- W3035629218 cites W2170516128 @default.
- W3035629218 cites W2306947905 @default.
- W3035629218 cites W2326708254 @default.
- W3035629218 cites W2534955677 @default.
- W3035629218 cites W2540426790 @default.
- W3035629218 cites W2581649032 @default.
- W3035629218 cites W2772776818 @default.
- W3035629218 cites W2804042850 @default.
- W3035629218 cites W2809226260 @default.
- W3035629218 cites W2902351216 @default.
- W3035629218 cites W2914744717 @default.
- W3035629218 doi "https://doi.org/10.1002/acn3.51093" @default.
- W3035629218 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7359110" @default.
- W3035629218 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32530565" @default.
- W3035629218 hasPublicationYear "2020" @default.
- W3035629218 type Work @default.
- W3035629218 sameAs 3035629218 @default.
- W3035629218 citedByCount "17" @default.
- W3035629218 countsByYear W30356292182020 @default.
- W3035629218 countsByYear W30356292182021 @default.
- W3035629218 countsByYear W30356292182022 @default.
- W3035629218 countsByYear W30356292182023 @default.
- W3035629218 crossrefType "journal-article" @default.
- W3035629218 hasAuthorship W3035629218A5001942683 @default.
- W3035629218 hasAuthorship W3035629218A5008322323 @default.
- W3035629218 hasAuthorship W3035629218A5016021033 @default.
- W3035629218 hasAuthorship W3035629218A5026606410 @default.
- W3035629218 hasAuthorship W3035629218A5026728831 @default.
- W3035629218 hasAuthorship W3035629218A5028536413 @default.
- W3035629218 hasAuthorship W3035629218A5030867912 @default.