FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2138659461> ?p ?o ?g. }

• W2138659461 endingPage "831" @default.
• W2138659461 startingPage "825" @default.
• W2138659461 abstract "Background and objectives The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Genotype/phenotype correlations of WT1 mutations with renal function and proteinuria have been observed in world-wide cohorts with nephrotic syndrome or Wilms tumor (WT). This study analyzed mid-European patients with known constitutional heterozygous mutations in WT1, including patients without proteinuria or WT. Design, setting, participants & measurements Retrospective analysis of genotype, phenotype, and treatment of 53 patients with WT1 mutation from all pediatric nephrology centers in Germany, Austria, and Switzerland performed from 2010 to 2012. Results Median age was 12.4 (interquartile range [IQR], 6–19) years. Forty-four of 53 (83%) patients had an exon mutation (36 missense, eight truncating), and nine of 53 (17%) had an intronic lysine-threonine-serine (KTS) splice site mutation. Fifty of 53 patients (94%) had proteinuria, which occurred at an earlier age in patients with missense mutations (0.6 [IQR, 0.1–1.5] years) than in those with truncating (9.7 [IQR, 5.7–11.9]; P<0.001) and splice site (4.0 [IQR, 2.6–6.6]; P=0.004) mutations. Thirteen of 50 (26%) were treated with steroids and remained irresponsive, while three of five partially responded to cyclosporine A. Seventy-three percent of all patients required RRT, those with missense mutations significantly earlier (at 1.1 [IQR, 0.01–9.3] years) than those with truncating mutations (16.5 [IQR, 16.5–16.8]; P<0.001) and splice site mutations (12.3 [IQR, 7.9–18.2]; P=0.002). Diffuse mesangial sclerosis was restricted to patients with missense mutations, while focal segmental sclerosis occurred in all groups. WT occurred only in patients with exon mutations (n=19). Fifty of 53 (94%) patients were karyotyped: Thirty-one (62%) had XY and 19 (38%) had XX chromosomes, and 96% of male karyotypes had urogenital malformations. Conclusions Type and location of WT1 mutations have predictive value for the development of proteinuria, renal insufficiency, and WT. XY karyotype was more frequent and associated with urogenital malformations in most cases." @default.
• W2138659461 created "2016-06-24" @default.
• W2138659461 creator A5002578505 @default.
• W2138659461 creator A5006776419 @default.
• W2138659461 creator A5008899290 @default.
• W2138659461 creator A5011160875 @default.
• W2138659461 creator A5015282079 @default.
• W2138659461 creator A5017611608 @default.
• W2138659461 creator A5021516367 @default.
• W2138659461 creator A5022135649 @default.
• W2138659461 creator A5022728813 @default.
• W2138659461 creator A5023997822 @default.
• W2138659461 creator A5026952482 @default.
• W2138659461 creator A5029830172 @default.
• W2138659461 creator A5031170905 @default.
• W2138659461 creator A5033210763 @default.
• W2138659461 creator A5039731674 @default.
• W2138659461 creator A5040889551 @default.
• W2138659461 creator A5044136682 @default.
• W2138659461 creator A5046944762 @default.
• W2138659461 creator A5048588130 @default.
• W2138659461 creator A5049795818 @default.
• W2138659461 creator A5057857690 @default.
• W2138659461 creator A5060425510 @default.
• W2138659461 creator A5061263981 @default.
• W2138659461 creator A5061968625 @default.
• W2138659461 creator A5078106788 @default.
• W2138659461 creator A5079050280 @default.
• W2138659461 creator A5080152645 @default.
• W2138659461 creator A5081815546 @default.
• W2138659461 creator A5086666694 @default.
• W2138659461 creator A5087488667 @default.
• W2138659461 creator A5089804308 @default.
• W2138659461 creator A5090365127 @default.
• W2138659461 date "2015-05-01" @default.
• W2138659461 modified "2023-10-18" @default.
• W2138659461 title "Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1" @default.
• W2138659461 cites W1994637142 @default.
• W2138659461 cites W1996877657 @default.
• W2138659461 cites W2001560748 @default.
• W2138659461 cites W2011841406 @default.
• W2138659461 cites W2022404774 @default.
• W2138659461 cites W2023044448 @default.
• W2138659461 cites W2023905569 @default.
• W2138659461 cites W2030140354 @default.
• W2138659461 cites W2034415645 @default.
• W2138659461 cites W2036105953 @default.
• W2138659461 cites W2038508315 @default.
• W2138659461 cites W2038580813 @default.
• W2138659461 cites W2039508988 @default.
• W2138659461 cites W2056190791 @default.
• W2138659461 cites W2056667531 @default.
• W2138659461 cites W2071482032 @default.
• W2138659461 cites W2073034411 @default.
• W2138659461 cites W2078779763 @default.
• W2138659461 cites W2079585154 @default.
• W2138659461 cites W2086304578 @default.
• W2138659461 cites W2100659482 @default.
• W2138659461 cites W2105851056 @default.
• W2138659461 cites W2122992197 @default.
• W2138659461 cites W2127253331 @default.
• W2138659461 cites W2128441774 @default.
• W2138659461 cites W2148069086 @default.
• W2138659461 cites W2151438241 @default.
• W2138659461 cites W2163743218 @default.
• W2138659461 cites W2165514373 @default.
• W2138659461 cites W2415870078 @default.
• W2138659461 doi "https://doi.org/10.2215/cjn.10141014" @default.
• W2138659461 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4422247" @default.
• W2138659461 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25818337" @default.
• W2138659461 hasPublicationYear "2015" @default.
• W2138659461 type Work @default.
• W2138659461 sameAs 2138659461 @default.
• W2138659461 citedByCount "48" @default.
• W2138659461 countsByYear W21386594612015 @default.
• W2138659461 countsByYear W21386594612016 @default.
• W2138659461 countsByYear W21386594612017 @default.
• W2138659461 countsByYear W21386594612018 @default.
• W2138659461 countsByYear W21386594612019 @default.
• W2138659461 countsByYear W21386594612020 @default.
• W2138659461 countsByYear W21386594612021 @default.
• W2138659461 countsByYear W21386594612022 @default.
• W2138659461 countsByYear W21386594612023 @default.
• W2138659461 crossrefType "journal-article" @default.
• W2138659461 hasAuthorship W2138659461A5002578505 @default.
• W2138659461 hasAuthorship W2138659461A5006776419 @default.
• W2138659461 hasAuthorship W2138659461A5008899290 @default.
• W2138659461 hasAuthorship W2138659461A5011160875 @default.
• W2138659461 hasAuthorship W2138659461A5015282079 @default.
• W2138659461 hasAuthorship W2138659461A5017611608 @default.
• W2138659461 hasAuthorship W2138659461A5021516367 @default.
• W2138659461 hasAuthorship W2138659461A5022135649 @default.
• W2138659461 hasAuthorship W2138659461A5022728813 @default.
• W2138659461 hasAuthorship W2138659461A5023997822 @default.
• W2138659461 hasAuthorship W2138659461A5026952482 @default.
• W2138659461 hasAuthorship W2138659461A5029830172 @default.
• W2138659461 hasAuthorship W2138659461A5031170905 @default.
• W2138659461 hasAuthorship W2138659461A5033210763 @default.

• next