Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912391373> ?p ?o ?g. }
- W2912391373 abstract "Abstract Group 1 pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite recent therapeutic advances. Pathogenic remodeling of pulmonary arterioles leads to increased pulmonary pressures, right ventricular hypertrophy and heart failure. Mutations in bone morphogenetic protein receptor type 2 and other risk genes predispose to disease, but the vast majority of non-familial cases remain genetically undefined. To identify new risk genes, we performed exome sequencing in a large cohort from the National Biological Sample and Data Repository for PAH. By statistical association of rare deleterious variants, we found tissue kallikrein 1 and gamma glutamyl carboxylase as new candidate risk genes for idiopathic PAH associated with a later age-of-onset and relatively moderate disease phenotype compared to bone morphogenetic receptor type 2. Both genes play important roles in vascular hemodynamics and inflammation but have not been implicated in PAH previously. These data suggest new genes, pathogenic mechanisms and therapeutic targets for this lethal vasculopathy." @default.
- W2912391373 created "2019-02-21" @default.
- W2912391373 creator A5001010976 @default.
- W2912391373 creator A5007010513 @default.
- W2912391373 creator A5009809981 @default.
- W2912391373 creator A5018185033 @default.
- W2912391373 creator A5018722278 @default.
- W2912391373 creator A5037499657 @default.
- W2912391373 creator A5038372761 @default.
- W2912391373 creator A5042957912 @default.
- W2912391373 creator A5046246342 @default.
- W2912391373 creator A5049943425 @default.
- W2912391373 creator A5051597447 @default.
- W2912391373 creator A5079825013 @default.
- W2912391373 creator A5083581386 @default.
- W2912391373 creator A5087301169 @default.
- W2912391373 date "2019-02-14" @default.
- W2912391373 modified "2023-10-16" @default.
- W2912391373 title "Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertension" @default.
- W2912391373 cites W1539356686 @default.
- W2912391373 cites W1546528060 @default.
- W2912391373 cites W1606441445 @default.
- W2912391373 cites W1824340961 @default.
- W2912391373 cites W1979615536 @default.
- W2912391373 cites W1984068087 @default.
- W2912391373 cites W1984624705 @default.
- W2912391373 cites W1985417036 @default.
- W2912391373 cites W1986818660 @default.
- W2912391373 cites W2018318070 @default.
- W2912391373 cites W2024407185 @default.
- W2912391373 cites W2025947830 @default.
- W2912391373 cites W2046277983 @default.
- W2912391373 cites W2067072627 @default.
- W2912391373 cites W2070984858 @default.
- W2912391373 cites W2088816147 @default.
- W2912391373 cites W2096393477 @default.
- W2912391373 cites W2099024815 @default.
- W2912391373 cites W2102948567 @default.
- W2912391373 cites W2112113834 @default.
- W2912391373 cites W2117339256 @default.
- W2912391373 cites W2119370586 @default.
- W2912391373 cites W2134006584 @default.
- W2912391373 cites W2140026505 @default.
- W2912391373 cites W2140319297 @default.
- W2912391373 cites W2152613954 @default.
- W2912391373 cites W2161561494 @default.
- W2912391373 cites W2168133698 @default.
- W2912391373 cites W2178108213 @default.
- W2912391373 cites W2238514531 @default.
- W2912391373 cites W2253353716 @default.
- W2912391373 cites W2521967673 @default.
- W2912391373 cites W2538358032 @default.
- W2912391373 cites W2540656623 @default.
- W2912391373 cites W2580352007 @default.
- W2912391373 cites W2586994065 @default.
- W2912391373 cites W2736529787 @default.
- W2912391373 cites W2752675155 @default.
- W2912391373 cites W2796016575 @default.
- W2912391373 cites W2796896036 @default.
- W2912391373 cites W2797926700 @default.
- W2912391373 cites W2800181551 @default.
- W2912391373 cites W2800770620 @default.
- W2912391373 cites W2884920459 @default.
- W2912391373 cites W2897723629 @default.
- W2912391373 cites W2904180601 @default.
- W2912391373 cites W2905257285 @default.
- W2912391373 cites W4238758240 @default.
- W2912391373 doi "https://doi.org/10.1101/550327" @default.
- W2912391373 hasPublicationYear "2019" @default.
- W2912391373 type Work @default.
- W2912391373 sameAs 2912391373 @default.
- W2912391373 citedByCount "3" @default.
- W2912391373 countsByYear W29123913732020 @default.
- W2912391373 countsByYear W29123913732021 @default.
- W2912391373 countsByYear W29123913732022 @default.
- W2912391373 crossrefType "posted-content" @default.
- W2912391373 hasAuthorship W2912391373A5001010976 @default.
- W2912391373 hasAuthorship W2912391373A5007010513 @default.
- W2912391373 hasAuthorship W2912391373A5009809981 @default.
- W2912391373 hasAuthorship W2912391373A5018185033 @default.
- W2912391373 hasAuthorship W2912391373A5018722278 @default.
- W2912391373 hasAuthorship W2912391373A5037499657 @default.
- W2912391373 hasAuthorship W2912391373A5038372761 @default.
- W2912391373 hasAuthorship W2912391373A5042957912 @default.
- W2912391373 hasAuthorship W2912391373A5046246342 @default.
- W2912391373 hasAuthorship W2912391373A5049943425 @default.
- W2912391373 hasAuthorship W2912391373A5051597447 @default.
- W2912391373 hasAuthorship W2912391373A5079825013 @default.
- W2912391373 hasAuthorship W2912391373A5083581386 @default.
- W2912391373 hasAuthorship W2912391373A5087301169 @default.
- W2912391373 hasBestOaLocation W29123913731 @default.
- W2912391373 hasConcept C104317684 @default.
- W2912391373 hasConcept C10590036 @default.
- W2912391373 hasConcept C126322002 @default.
- W2912391373 hasConcept C127716648 @default.
- W2912391373 hasConcept C16671776 @default.
- W2912391373 hasConcept C2779134260 @default.
- W2912391373 hasConcept C2780930700 @default.
- W2912391373 hasConcept C31507581 @default.
- W2912391373 hasConcept C54355233 @default.