FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2146152479> ?p ?o ?g. }

• W2146152479 endingPage "2543" @default.
• W2146152479 startingPage "2538" @default.
• W2146152479 abstract "Glomerulopathy with fibronectin (FN) deposits (GFND) is an autosomal dominant disease with age-related penetrance, characterized by proteinuria, microscopic hematuria, hypertension, and massive glomerular deposits of FN that lead to end-stage renal failure. The genetic abnormality underlying GFND was still unknown. We hypothesized that mutations in FN1 , which encodes FN, were the cause of GFND. In a large Italian pedigree with eight affected subjects, we found linkage with GFND at the FN1 locus at 2q32. We sequenced the FN1 in 15 unrelated pedigrees and found three heterozygous missense mutations, the W1925R, L1974R, and Y973C, that cosegregated with the disease in six pedigrees. The mutations affected two domains of FN (Hep-II domain for the W1925R and the L1974R, and Hep-III domain for the Y973C) that play key roles in FN–cell interaction and in FN fibrillogenesis. Mutant recombinant Hep-II fragments were expressed, and functional studies revealed a lower binding to heparin and to endothelial cells and podocytes compared with wild-type Hep-II and an impaired capability to induce endothelial cell spreading and cytoskeletal reorganization. Overall dominant mutations in FN1 accounted for 40% of cases of GFND in our study group. These findings may help understanding the pathogenesis of proteinuria and glomerular FN deposits in GFND and possibly in more common renal diseases such as diabetic nephropathy, IgA nephropathy, and lupus nephritis. To our knowledge no FN1 mutation causing a human disease was previously reported." @default.
• W2146152479 created "2016-06-24" @default.
• W2146152479 creator A5003965317 @default.
• W2146152479 creator A5019429551 @default.
• W2146152479 creator A5023556434 @default.
• W2146152479 creator A5031331328 @default.
• W2146152479 creator A5041554168 @default.
• W2146152479 creator A5046398268 @default.
• W2146152479 creator A5064306128 @default.
• W2146152479 creator A5064586974 @default.
• W2146152479 creator A5067381987 @default.
• W2146152479 creator A5074615051 @default.
• W2146152479 creator A5077564004 @default.
• W2146152479 creator A5078410191 @default.
• W2146152479 creator A5079173500 @default.
• W2146152479 creator A5086863291 @default.
• W2146152479 creator A5091106110 @default.
• W2146152479 date "2008-02-19" @default.
• W2146152479 modified "2023-10-18" @default.
• W2146152479 title "Mutations in <i>FN1</i> cause glomerulopathy with fibronectin deposits" @default.
• W2146152479 cites W147720950 @default.
• W2146152479 cites W1558451333 @default.
• W2146152479 cites W1914707020 @default.
• W2146152479 cites W1965972308 @default.
• W2146152479 cites W1978282603 @default.
• W2146152479 cites W1978400331 @default.
• W2146152479 cites W1978991202 @default.
• W2146152479 cites W1983774444 @default.
• W2146152479 cites W1984720190 @default.
• W2146152479 cites W2013188880 @default.
• W2146152479 cites W2014993079 @default.
• W2146152479 cites W2016476588 @default.
• W2146152479 cites W2018142405 @default.
• W2146152479 cites W2020511578 @default.
• W2146152479 cites W2022492763 @default.
• W2146152479 cites W2024051243 @default.
• W2146152479 cites W2031935322 @default.
• W2146152479 cites W2033391106 @default.
• W2146152479 cites W2034514722 @default.
• W2146152479 cites W2037031112 @default.
• W2146152479 cites W2039537505 @default.
• W2146152479 cites W2042611693 @default.
• W2146152479 cites W2045997268 @default.
• W2146152479 cites W2053977569 @default.
• W2146152479 cites W2054373923 @default.
• W2146152479 cites W2055335582 @default.
• W2146152479 cites W2063340494 @default.
• W2146152479 cites W2079571194 @default.
• W2146152479 cites W2081643000 @default.
• W2146152479 cites W2085779357 @default.
• W2146152479 cites W2136102235 @default.
• W2146152479 cites W2155219498 @default.
• W2146152479 cites W2170900242 @default.
• W2146152479 cites W2917607984 @default.
• W2146152479 doi "https://doi.org/10.1073/pnas.0707730105" @default.
• W2146152479 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2268172" @default.
• W2146152479 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18268355" @default.
• W2146152479 hasPublicationYear "2008" @default.
• W2146152479 type Work @default.
• W2146152479 sameAs 2146152479 @default.
• W2146152479 citedByCount "121" @default.
• W2146152479 countsByYear W21461524792012 @default.
• W2146152479 countsByYear W21461524792013 @default.
• W2146152479 countsByYear W21461524792014 @default.
• W2146152479 countsByYear W21461524792015 @default.
• W2146152479 countsByYear W21461524792016 @default.
• W2146152479 countsByYear W21461524792017 @default.
• W2146152479 countsByYear W21461524792018 @default.
• W2146152479 countsByYear W21461524792019 @default.
• W2146152479 countsByYear W21461524792020 @default.
• W2146152479 countsByYear W21461524792021 @default.
• W2146152479 countsByYear W21461524792022 @default.
• W2146152479 countsByYear W21461524792023 @default.
• W2146152479 crossrefType "journal-article" @default.
• W2146152479 hasAuthorship W2146152479A5003965317 @default.
• W2146152479 hasAuthorship W2146152479A5019429551 @default.
• W2146152479 hasAuthorship W2146152479A5023556434 @default.
• W2146152479 hasAuthorship W2146152479A5031331328 @default.
• W2146152479 hasAuthorship W2146152479A5041554168 @default.
• W2146152479 hasAuthorship W2146152479A5046398268 @default.
• W2146152479 hasAuthorship W2146152479A5064306128 @default.
• W2146152479 hasAuthorship W2146152479A5064586974 @default.
• W2146152479 hasAuthorship W2146152479A5067381987 @default.
• W2146152479 hasAuthorship W2146152479A5074615051 @default.
• W2146152479 hasAuthorship W2146152479A5077564004 @default.
• W2146152479 hasAuthorship W2146152479A5078410191 @default.
• W2146152479 hasAuthorship W2146152479A5079173500 @default.
• W2146152479 hasAuthorship W2146152479A5086863291 @default.
• W2146152479 hasAuthorship W2146152479A5091106110 @default.
• W2146152479 hasBestOaLocation W21461524791 @default.
• W2146152479 hasConcept C104317684 @default.
• W2146152479 hasConcept C126322002 @default.
• W2146152479 hasConcept C127716648 @default.
• W2146152479 hasConcept C134018914 @default.
• W2146152479 hasConcept C200544954 @default.
• W2146152479 hasConcept C203014093 @default.
• W2146152479 hasConcept C2777058396 @default.
• W2146152479 hasConcept C2779134260 @default.

• next