FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017217412> ?p ?o ?g. }

• W2017217412 endingPage "901" @default.
• W2017217412 startingPage "895" @default.
• W2017217412 abstract "Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries. Involvement of the FBLN4 gene in cardiovascular pathology was shown in a murine model and in three patients affected with cutis laxa in association with systemic involvement. To elucidate the contribution of FBLN4 in human disease, we investigated two cohorts of patients. Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. In a second group of 22 patients presenting with arterial tortuosity, stenosis and aneurysms, FBLN4 mutations were identified in three patients, two homozygous missense mutations (p.Glu126Lys and p.Ala397Thr) and compound heterozygosity for missense mutation p.Glu126Val and frameshift mutation c.577delC. Immunoblotting analysis showed a decreased amount of fibulin-4 protein in the fibroblast culture media of two patients, a finding sustained by diminished fibulin-4 in the extracellular matrix of the aortic wall on immunohistochemistry. pSmad2 and CTGF immunostaining of aortic and lung tissue revealed an increase in transforming growth factor (TGF)beta signaling. This was confirmed by pSmad2 immunoblotting of fibroblast cultures. In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. This confirms the important role of fibulin-4 in vascular elastic fiber assembly. Furthermore, we provide the first evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations in humans." @default.
• W2017217412 created "2016-06-24" @default.
• W2017217412 creator A5011137806 @default.
• W2017217412 creator A5019059377 @default.
• W2017217412 creator A5019259925 @default.
• W2017217412 creator A5024492632 @default.
• W2017217412 creator A5025524692 @default.
• W2017217412 creator A5028795651 @default.
• W2017217412 creator A5031190981 @default.
• W2017217412 creator A5033033652 @default.
• W2017217412 creator A5038027788 @default.
• W2017217412 creator A5041254013 @default.
• W2017217412 creator A5042051309 @default.
• W2017217412 creator A5045578157 @default.
• W2017217412 creator A5058708316 @default.
• W2017217412 creator A5066526118 @default.
• W2017217412 creator A5067658607 @default.
• W2017217412 creator A5079649975 @default.
• W2017217412 creator A5087981672 @default.
• W2017217412 date "2010-04-14" @default.
• W2017217412 modified "2023-10-18" @default.
• W2017217412 title "Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency" @default.
• W2017217412 cites W1963855416 @default.
• W2017217412 cites W1968304646 @default.
• W2017217412 cites W1973669450 @default.
• W2017217412 cites W1973989747 @default.
• W2017217412 cites W1974746092 @default.
• W2017217412 cites W1979022589 @default.
• W2017217412 cites W1993744211 @default.
• W2017217412 cites W2004719527 @default.
• W2017217412 cites W2005270333 @default.
• W2017217412 cites W2007719684 @default.
• W2017217412 cites W2011022215 @default.
• W2017217412 cites W2018773086 @default.
• W2017217412 cites W2023105792 @default.
• W2017217412 cites W2034221155 @default.
• W2017217412 cites W2037115738 @default.
• W2017217412 cites W2045371528 @default.
• W2017217412 cites W2054248890 @default.
• W2017217412 cites W2054351373 @default.
• W2017217412 cites W2058734183 @default.
• W2017217412 cites W2059139768 @default.
• W2017217412 cites W2059599014 @default.
• W2017217412 cites W2077021664 @default.
• W2017217412 cites W2084311974 @default.
• W2017217412 cites W2095071789 @default.
• W2017217412 cites W2101251758 @default.
• W2017217412 cites W2112126161 @default.
• W2017217412 cites W2112887261 @default.
• W2017217412 cites W2114232003 @default.
• W2017217412 cites W2115328944 @default.
• W2017217412 cites W2122588714 @default.
• W2017217412 cites W2123259277 @default.
• W2017217412 cites W2129969680 @default.
• W2017217412 cites W2138946261 @default.
• W2017217412 cites W2150459172 @default.
• W2017217412 cites W2152096888 @default.
• W2017217412 cites W2152350731 @default.
• W2017217412 cites W4239468325 @default.
• W2017217412 doi "https://doi.org/10.1038/ejhg.2010.45" @default.
• W2017217412 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2987390" @default.
• W2017217412 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20389311" @default.
• W2017217412 hasPublicationYear "2010" @default.
• W2017217412 type Work @default.
• W2017217412 sameAs 2017217412 @default.
• W2017217412 citedByCount "133" @default.
• W2017217412 countsByYear W20172174122012 @default.
• W2017217412 countsByYear W20172174122013 @default.
• W2017217412 countsByYear W20172174122014 @default.
• W2017217412 countsByYear W20172174122015 @default.
• W2017217412 countsByYear W20172174122016 @default.
• W2017217412 countsByYear W20172174122017 @default.
• W2017217412 countsByYear W20172174122018 @default.
• W2017217412 countsByYear W20172174122019 @default.
• W2017217412 countsByYear W20172174122020 @default.
• W2017217412 countsByYear W20172174122021 @default.
• W2017217412 countsByYear W20172174122022 @default.
• W2017217412 crossrefType "journal-article" @default.
• W2017217412 hasAuthorship W2017217412A5011137806 @default.
• W2017217412 hasAuthorship W2017217412A5019059377 @default.
• W2017217412 hasAuthorship W2017217412A5019259925 @default.
• W2017217412 hasAuthorship W2017217412A5024492632 @default.
• W2017217412 hasAuthorship W2017217412A5025524692 @default.
• W2017217412 hasAuthorship W2017217412A5028795651 @default.
• W2017217412 hasAuthorship W2017217412A5031190981 @default.
• W2017217412 hasAuthorship W2017217412A5033033652 @default.
• W2017217412 hasAuthorship W2017217412A5038027788 @default.
• W2017217412 hasAuthorship W2017217412A5041254013 @default.
• W2017217412 hasAuthorship W2017217412A5042051309 @default.
• W2017217412 hasAuthorship W2017217412A5045578157 @default.
• W2017217412 hasAuthorship W2017217412A5058708316 @default.
• W2017217412 hasAuthorship W2017217412A5066526118 @default.
• W2017217412 hasAuthorship W2017217412A5067658607 @default.
• W2017217412 hasAuthorship W2017217412A5079649975 @default.
• W2017217412 hasAuthorship W2017217412A5087981672 @default.
• W2017217412 hasBestOaLocation W20172174121 @default.
• W2017217412 hasConcept C104317684 @default.
• W2017217412 hasConcept C126322002 @default.

• next