FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012396459> ?p ?o ?g. }

• W2012396459 endingPage "410" @default.
• W2012396459 startingPage "405" @default.
• W2012396459 abstract "Hypospadias is a common malformation, which results from failure of urethral tube closure, and whose molecular mechanisms are still largely unknown. The normal genital development is orchestrated by the urethral plate epithelium (UPE), at the genital tubercle (GT), which has polarizing activity, controlling a network of epithelial–mesenchymal interactions, which, when disturbed, may lead to hypospadias. Homeobox proteins (HOXs), fibroblast growth factors (FGFs) and bone morphogenic proteins (BMPs) are essential in this process. Hypospadias in the Hoxa13 −/− mice occurs as a result of the combined loss of Fgf8 and Bmp7 expression in the UPE. In both Fgf10 and Fgfr2 deficient mutant hypospadic male mice, cell proliferation is arrested prematurely and the maturation of the urethral epithelium is disrupted. Fgf8, Fgf10, and their receptor Fgfr2 are downstream targets of androgens (AR) during external genital development, an important fact given the pivotal role of AR in male sex differentiation. Therefore, we examined FGFR2, FGF10, FGF8, and BMP7 as candidate genes for hypospadias. DNA from 60 boys with familial, isolated, hypospadias was screened for mutations in FGFR2, FGF10, FGF8, and BMP7 genes, using DHPLC and DNA sequence analysis. The sequence variations c.590C>G and c.582-62G>A in FGF8, and, c.550+27C>T, c.727+180T>G, c.830T>C (p.Me186Thr), and c.2454C>T in FGFR2 were found uniquely in patients with hypospadias, as compared with 96 controls. No genetic variant in the other genes was detected. These results indicate that mutations are rare in FGF8 and FGFR2 in hypospadias, but gene variants may influence the risk." @default.
• W2012396459 created "2016-06-24" @default.
• W2012396459 creator A5002550830 @default.
• W2012396459 creator A5012749944 @default.
• W2012396459 creator A5047297346 @default.
• W2012396459 creator A5048178738 @default.
• W2012396459 creator A5072782775 @default.
• W2012396459 creator A5075874833 @default.
• W2012396459 creator A5019556486 @default.
• W2012396459 date "2007-01-31" @default.
• W2012396459 modified "2023-10-15" @default.
• W2012396459 title "FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias" @default.
• W2012396459 cites W1930346508 @default.
• W2012396459 cites W1980223730 @default.
• W2012396459 cites W1993194063 @default.
• W2012396459 cites W2013397153 @default.
• W2012396459 cites W2037458235 @default.
• W2012396459 cites W2056829597 @default.
• W2012396459 cites W2060535511 @default.
• W2012396459 cites W2062584010 @default.
• W2012396459 cites W2067792356 @default.
• W2012396459 cites W2072409255 @default.
• W2012396459 cites W2096747557 @default.
• W2012396459 cites W2102737710 @default.
• W2012396459 cites W2104399433 @default.
• W2012396459 cites W2135747955 @default.
• W2012396459 cites W2141275674 @default.
• W2012396459 cites W2145681395 @default.
• W2012396459 cites W2159969199 @default.
• W2012396459 cites W4231497215 @default.
• W2012396459 cites W4372204671 @default.
• W2012396459 cites W83779009 @default.
• W2012396459 doi "https://doi.org/10.1038/sj.ejhg.5201777" @default.
• W2012396459 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17264867" @default.
• W2012396459 hasPublicationYear "2007" @default.
• W2012396459 type Work @default.
• W2012396459 sameAs 2012396459 @default.
• W2012396459 citedByCount "70" @default.
• W2012396459 countsByYear W20123964592012 @default.
• W2012396459 countsByYear W20123964592013 @default.
• W2012396459 countsByYear W20123964592014 @default.
• W2012396459 countsByYear W20123964592015 @default.
• W2012396459 countsByYear W20123964592016 @default.
• W2012396459 countsByYear W20123964592017 @default.
• W2012396459 countsByYear W20123964592018 @default.
• W2012396459 countsByYear W20123964592019 @default.
• W2012396459 countsByYear W20123964592020 @default.
• W2012396459 countsByYear W20123964592021 @default.
• W2012396459 countsByYear W20123964592022 @default.
• W2012396459 countsByYear W20123964592023 @default.
• W2012396459 crossrefType "journal-article" @default.
• W2012396459 hasAuthorship W2012396459A5002550830 @default.
• W2012396459 hasAuthorship W2012396459A5012749944 @default.
• W2012396459 hasAuthorship W2012396459A5019556486 @default.
• W2012396459 hasAuthorship W2012396459A5047297346 @default.
• W2012396459 hasAuthorship W2012396459A5048178738 @default.
• W2012396459 hasAuthorship W2012396459A5072782775 @default.
• W2012396459 hasAuthorship W2012396459A5075874833 @default.
• W2012396459 hasBestOaLocation W20123964591 @default.
• W2012396459 hasConcept C126322002 @default.
• W2012396459 hasConcept C134018914 @default.
• W2012396459 hasConcept C146759223 @default.
• W2012396459 hasConcept C170493617 @default.
• W2012396459 hasConcept C2776094402 @default.
• W2012396459 hasConcept C2776340970 @default.
• W2012396459 hasConcept C2777990738 @default.
• W2012396459 hasConcept C529295009 @default.
• W2012396459 hasConcept C54355233 @default.
• W2012396459 hasConcept C71924100 @default.
• W2012396459 hasConcept C74373430 @default.
• W2012396459 hasConcept C86803240 @default.
• W2012396459 hasConceptScore W2012396459C126322002 @default.
• W2012396459 hasConceptScore W2012396459C134018914 @default.
• W2012396459 hasConceptScore W2012396459C146759223 @default.
• W2012396459 hasConceptScore W2012396459C170493617 @default.
• W2012396459 hasConceptScore W2012396459C2776094402 @default.
• W2012396459 hasConceptScore W2012396459C2776340970 @default.
• W2012396459 hasConceptScore W2012396459C2777990738 @default.
• W2012396459 hasConceptScore W2012396459C529295009 @default.
• W2012396459 hasConceptScore W2012396459C54355233 @default.
• W2012396459 hasConceptScore W2012396459C71924100 @default.
• W2012396459 hasConceptScore W2012396459C74373430 @default.
• W2012396459 hasConceptScore W2012396459C86803240 @default.
• W2012396459 hasIssue "4" @default.
• W2012396459 hasLocation W20123964591 @default.
• W2012396459 hasLocation W20123964592 @default.
• W2012396459 hasOpenAccess W2012396459 @default.
• W2012396459 hasPrimaryLocation W20123964591 @default.
• W2012396459 hasRelatedWork W1572694161 @default.
• W2012396459 hasRelatedWork W1964144954 @default.
• W2012396459 hasRelatedWork W2098554686 @default.
• W2012396459 hasRelatedWork W2107488511 @default.
• W2012396459 hasRelatedWork W2162783969 @default.
• W2012396459 hasRelatedWork W2166646853 @default.
• W2012396459 hasRelatedWork W2177983977 @default.
• W2012396459 hasRelatedWork W2803095160 @default.
• W2012396459 hasRelatedWork W2903819089 @default.
• W2012396459 hasRelatedWork W3134918978 @default.

• next