Matches in SemOpenAlex for { <https://semopenalex.org/work/W2090725961> ?p ?o ?g. }
- W2090725961 endingPage "e90215" @default.
- W2090725961 startingPage "e90215" @default.
- W2090725961 abstract "Congenital heart disease (CHD) is the most common birth defect affecting the structure and function of fetal hearts. Despite decades of extensive studies, the genetic mechanism of sporadic CHD remains obscure. Deleted in liver cancer 1 (DLC1) gene, encoding a GTPase-activating protein, is highly expressed in heart and essential for heart development according to the knowledge of Dlc1-deficient mice. To determine whether DLC1 is a susceptibility gene for sporadic CHD, we sequenced the coding region of DLC1 isoform 1 in 151 sporadic CHD patients and identified 13 non-synonymous rare variants (including 6 private variants) in the case cohort. Importantly, these rare variants (8/13) were enriched in the N-terminal region of the DLC1 isoform 1 protein. Seven of eight amino acids at the N-terminal variant positions were conserved among the primates. Among the 9 rare variants that were predicted as “damaging”, five were located at the N-terminal region. Ensuing in vitro functional assays showed that three private variants (Met360Lys, Glu418Lys and Asp554Val) impaired the ability of DLC1 to inhibit cell migration or altered the subcellular location of the protein compared to wild-type DLC1 isoform 1. These data suggest that DLC1 might act as a CHD-associated gene in addition to its role as a tumor suppressor in cancer." @default.
- W2090725961 created "2016-06-24" @default.
- W2090725961 creator A5008083038 @default.
- W2090725961 creator A5013736647 @default.
- W2090725961 creator A5014013303 @default.
- W2090725961 creator A5018128086 @default.
- W2090725961 creator A5022549176 @default.
- W2090725961 creator A5024778093 @default.
- W2090725961 creator A5031234889 @default.
- W2090725961 creator A5039319936 @default.
- W2090725961 creator A5054358636 @default.
- W2090725961 creator A5057100441 @default.
- W2090725961 creator A5065058975 @default.
- W2090725961 creator A5069611208 @default.
- W2090725961 creator A5073501874 @default.
- W2090725961 creator A5075961914 @default.
- W2090725961 creator A5081112182 @default.
- W2090725961 creator A5090687618 @default.
- W2090725961 date "2014-02-28" @default.
- W2090725961 modified "2023-10-16" @default.
- W2090725961 title "Uncovering the Rare Variants of DLC1 Isoform 1 and Their Functional Effects in a Chinese Sporadic Congenital Heart Disease Cohort" @default.
- W2090725961 cites W1974185766 @default.
- W2090725961 cites W1978150238 @default.
- W2090725961 cites W1980740976 @default.
- W2090725961 cites W1982761958 @default.
- W2090725961 cites W1986155425 @default.
- W2090725961 cites W1987754412 @default.
- W2090725961 cites W1988670106 @default.
- W2090725961 cites W1989298969 @default.
- W2090725961 cites W1989457690 @default.
- W2090725961 cites W1994610973 @default.
- W2090725961 cites W2009016039 @default.
- W2090725961 cites W2011395927 @default.
- W2090725961 cites W2016267459 @default.
- W2090725961 cites W2017194914 @default.
- W2090725961 cites W2017541958 @default.
- W2090725961 cites W2018360771 @default.
- W2090725961 cites W2020117837 @default.
- W2090725961 cites W2026554591 @default.
- W2090725961 cites W2040686597 @default.
- W2090725961 cites W2040740850 @default.
- W2090725961 cites W2043402055 @default.
- W2090725961 cites W2056672569 @default.
- W2090725961 cites W2060160757 @default.
- W2090725961 cites W2076890216 @default.
- W2090725961 cites W2076995895 @default.
- W2090725961 cites W2079771882 @default.
- W2090725961 cites W2080146774 @default.
- W2090725961 cites W2087121423 @default.
- W2090725961 cites W2089017266 @default.
- W2090725961 cites W2091583677 @default.
- W2090725961 cites W2099938621 @default.
- W2090725961 cites W2102732577 @default.
- W2090725961 cites W2104794759 @default.
- W2090725961 cites W2109292973 @default.
- W2090725961 cites W2119920331 @default.
- W2090725961 cites W2127387556 @default.
- W2090725961 cites W2137763836 @default.
- W2090725961 cites W2142962833 @default.
- W2090725961 cites W2145471764 @default.
- W2090725961 cites W2153485816 @default.
- W2090725961 cites W2156134935 @default.
- W2090725961 cites W2157313296 @default.
- W2090725961 cites W2159796173 @default.
- W2090725961 cites W2164674592 @default.
- W2090725961 cites W2168717243 @default.
- W2090725961 cites W2171777347 @default.
- W2090725961 cites W4233334497 @default.
- W2090725961 doi "https://doi.org/10.1371/journal.pone.0090215" @default.
- W2090725961 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3938602" @default.
- W2090725961 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24587289" @default.
- W2090725961 hasPublicationYear "2014" @default.
- W2090725961 type Work @default.
- W2090725961 sameAs 2090725961 @default.
- W2090725961 citedByCount "14" @default.
- W2090725961 countsByYear W20907259612015 @default.
- W2090725961 countsByYear W20907259612016 @default.
- W2090725961 countsByYear W20907259612018 @default.
- W2090725961 countsByYear W20907259612019 @default.
- W2090725961 countsByYear W20907259612020 @default.
- W2090725961 countsByYear W20907259612021 @default.
- W2090725961 countsByYear W20907259612022 @default.
- W2090725961 crossrefType "journal-article" @default.
- W2090725961 hasAuthorship W2090725961A5008083038 @default.
- W2090725961 hasAuthorship W2090725961A5013736647 @default.
- W2090725961 hasAuthorship W2090725961A5014013303 @default.
- W2090725961 hasAuthorship W2090725961A5018128086 @default.
- W2090725961 hasAuthorship W2090725961A5022549176 @default.
- W2090725961 hasAuthorship W2090725961A5024778093 @default.
- W2090725961 hasAuthorship W2090725961A5031234889 @default.
- W2090725961 hasAuthorship W2090725961A5039319936 @default.
- W2090725961 hasAuthorship W2090725961A5054358636 @default.
- W2090725961 hasAuthorship W2090725961A5057100441 @default.
- W2090725961 hasAuthorship W2090725961A5065058975 @default.
- W2090725961 hasAuthorship W2090725961A5069611208 @default.
- W2090725961 hasAuthorship W2090725961A5073501874 @default.
- W2090725961 hasAuthorship W2090725961A5075961914 @default.
- W2090725961 hasAuthorship W2090725961A5081112182 @default.