Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385337356> ?p ?o ?g. }
- W4385337356 endingPage "100227" @default.
- W4385337356 startingPage "100227" @default.
- W4385337356 abstract "Ebstein’s anomaly is a rare congenital heart disease characterized by tricuspid valve downwards displacement and was associated with additional cardiac phenotypes such as left ventricle non-compaction. The genetic basis of Ebstein’s anomaly has yet to be fully elucidated, although several genes (e.g., NKX2-5, MYH7, TPM1, and FLNA) may contribute to Ebstein’s anomaly. Here, in two Ebstein’s anomaly families (a three-generation family and a trio), we identified independent heterozygous nonsense variants in laminin subunit 3α (LAMA3), cosegregated with phenotypes in families with reduced penetrance. Furthermore, knocking out Lama3 in mice revealed that haploinsufficiency of Lama3 led to Ebstein’s malformation of the tricuspid valve and an abnormal basement membrane structure. In conclusion, we identified a novel gene-disease association of LAMA3 implicated in Ebstein’s anomaly, and the findings extended our understanding of the role of the extracellular matrix in Ebstein’s anomaly etiology." @default.
- W4385337356 created "2023-07-29" @default.
- W4385337356 creator A5002803940 @default.
- W4385337356 creator A5002916492 @default.
- W4385337356 creator A5012134973 @default.
- W4385337356 creator A5024265456 @default.
- W4385337356 creator A5026624461 @default.
- W4385337356 creator A5030633364 @default.
- W4385337356 creator A5031521373 @default.
- W4385337356 creator A5032123228 @default.
- W4385337356 creator A5059445324 @default.
- W4385337356 creator A5065025844 @default.
- W4385337356 creator A5069799542 @default.
- W4385337356 creator A5089458516 @default.
- W4385337356 creator A5091127604 @default.
- W4385337356 date "2023-10-01" @default.
- W4385337356 modified "2023-09-26" @default.
- W4385337356 title "Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly" @default.
- W4385337356 cites W1516719079 @default.
- W4385337356 cites W1521171592 @default.
- W4385337356 cites W1971320336 @default.
- W4385337356 cites W1994174367 @default.
- W4385337356 cites W2005425316 @default.
- W4385337356 cites W2006309854 @default.
- W4385337356 cites W2051978340 @default.
- W4385337356 cites W2061823615 @default.
- W4385337356 cites W2062412841 @default.
- W4385337356 cites W2072166780 @default.
- W4385337356 cites W2075563634 @default.
- W4385337356 cites W2081887077 @default.
- W4385337356 cites W2084847830 @default.
- W4385337356 cites W2085121027 @default.
- W4385337356 cites W2093178436 @default.
- W4385337356 cites W2101625753 @default.
- W4385337356 cites W2104549677 @default.
- W4385337356 cites W2105753511 @default.
- W4385337356 cites W2107126369 @default.
- W4385337356 cites W2114503745 @default.
- W4385337356 cites W2116679991 @default.
- W4385337356 cites W2116778079 @default.
- W4385337356 cites W2127006085 @default.
- W4385337356 cites W2134111769 @default.
- W4385337356 cites W2144374844 @default.
- W4385337356 cites W2149681218 @default.
- W4385337356 cites W2150506261 @default.
- W4385337356 cites W2157454779 @default.
- W4385337356 cites W2160995259 @default.
- W4385337356 cites W2366103011 @default.
- W4385337356 cites W2417483443 @default.
- W4385337356 cites W2478595009 @default.
- W4385337356 cites W2580887223 @default.
- W4385337356 cites W2610652070 @default.
- W4385337356 cites W2765399005 @default.
- W4385337356 cites W2770026599 @default.
- W4385337356 cites W2773777133 @default.
- W4385337356 cites W2803374245 @default.
- W4385337356 cites W2889664156 @default.
- W4385337356 cites W2953080562 @default.
- W4385337356 cites W3018501516 @default.
- W4385337356 cites W3029661147 @default.
- W4385337356 cites W3126893064 @default.
- W4385337356 cites W4220815294 @default.
- W4385337356 cites W4285719527 @default.
- W4385337356 cites W4309151454 @default.
- W4385337356 cites W4309643822 @default.
- W4385337356 doi "https://doi.org/10.1016/j.xhgg.2023.100227" @default.
- W4385337356 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37635785" @default.
- W4385337356 hasPublicationYear "2023" @default.
- W4385337356 type Work @default.
- W4385337356 citedByCount "0" @default.
- W4385337356 crossrefType "journal-article" @default.
- W4385337356 hasAuthorship W4385337356A5002803940 @default.
- W4385337356 hasAuthorship W4385337356A5002916492 @default.
- W4385337356 hasAuthorship W4385337356A5012134973 @default.
- W4385337356 hasAuthorship W4385337356A5024265456 @default.
- W4385337356 hasAuthorship W4385337356A5026624461 @default.
- W4385337356 hasAuthorship W4385337356A5030633364 @default.
- W4385337356 hasAuthorship W4385337356A5031521373 @default.
- W4385337356 hasAuthorship W4385337356A5032123228 @default.
- W4385337356 hasAuthorship W4385337356A5059445324 @default.
- W4385337356 hasAuthorship W4385337356A5065025844 @default.
- W4385337356 hasAuthorship W4385337356A5069799542 @default.
- W4385337356 hasAuthorship W4385337356A5089458516 @default.
- W4385337356 hasAuthorship W4385337356A5091127604 @default.
- W4385337356 hasBestOaLocation W43853373561 @default.
- W4385337356 hasConcept C104317684 @default.
- W4385337356 hasConcept C126322002 @default.
- W4385337356 hasConcept C127716648 @default.
- W4385337356 hasConcept C200544954 @default.
- W4385337356 hasConcept C2778658428 @default.
- W4385337356 hasConcept C2779946567 @default.
- W4385337356 hasConcept C54355233 @default.
- W4385337356 hasConcept C68838962 @default.
- W4385337356 hasConcept C71924100 @default.
- W4385337356 hasConcept C86803240 @default.
- W4385337356 hasConceptScore W4385337356C104317684 @default.
- W4385337356 hasConceptScore W4385337356C126322002 @default.
- W4385337356 hasConceptScore W4385337356C127716648 @default.