FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2076257029> ?p ?o ?g. }

• W2076257029 endingPage "E1400" @default.
• W2076257029 startingPage "E1393" @default.
• W2076257029 abstract "Familial testicular germ cell tumors (FTGCTs) are hypothesized to result from the combined interaction of multiple low-penetrance genes. We reported inactivating germline mutations of the cAMP-binding phosphodiesterase 11A (PDE11A) as modifiers of FTGCT risk. Recent genome-wide association studies have identified single-nucleotide polymorphisms in the KITLG gene, the ligand for the cKIT tyrosine kinase receptor, as strong modifiers of susceptibility to both familial and sporadic testicular germ cell tumors.We studied 94 patients with FTGCTs and 50 at-risk male relatives from 63 unrelated kindreds, in whom the PDE11A gene had been sequenced by investigating the association between KITLG genome-wide association study single-nucleotide polymorphisms rs3782179 and rs4474514 and FTGCT risk in these patients and in 692 controls. We also examined cAMP and c-KIT signaling in testicular tissues and cell lines and extended the studies to 2 sporadic cases, one with a PDE11A defect and one without, as a comparison.We found a higher frequency of the KITLG risk alleles in FTGCT patients who also had a PDE11A sequence variant, compared with those with a wild-type PDE11A sequence. In NTERA-2 and Tcam-2 cells transfected with the mutated forms of PDE11A (R52T, F258Y, Y727C, R804H, V820M, R867G, and M878V), cAMP levels were significantly higher, and the relative phosphodiesterase activity was lower than in the wild-type cells. KITLG expression was consistently increased in the presence of PDE11A-inactivating defects, both at the RNA and protein levels, in familial testicular germ cell tumors. The 2 sporadic cases that were studied, one with a PDE11A defect and another without, agreed with the data in FTGTCT and in the cell lines.Patients with FTGCT and PDE11A defects also carry KITLG risk alleles more frequently. There may be an interaction between cAMP and c-KIT signaling in predisposition to testicular germ cell tumors." @default.
• W2076257029 created "2016-06-24" @default.
• W2076257029 creator A5007179832 @default.
• W2076257029 creator A5012314778 @default.
• W2076257029 creator A5013942288 @default.
• W2076257029 creator A5021925839 @default.
• W2076257029 creator A5023864103 @default.
• W2076257029 creator A5030754052 @default.
• W2076257029 creator A5031897654 @default.
• W2076257029 creator A5038356661 @default.
• W2076257029 creator A5038913575 @default.
• W2076257029 creator A5052712449 @default.
• W2076257029 creator A5054797823 @default.
• W2076257029 creator A5064644423 @default.
• W2076257029 creator A5075952597 @default.
• W2076257029 creator A5079972100 @default.
• W2076257029 creator A5089073198 @default.
• W2076257029 date "2013-08-01" @default.
• W2076257029 modified "2023-10-02" @default.
• W2076257029 title "Cyclic AMP and c-KIT Signaling in Familial Testicular Germ Cell Tumor Predisposition" @default.
• W2076257029 cites W1763445962 @default.
• W2076257029 cites W1986960957 @default.
• W2076257029 cites W1989027475 @default.
• W2076257029 cites W1995578853 @default.
• W2076257029 cites W2002747495 @default.
• W2076257029 cites W2009917029 @default.
• W2076257029 cites W2024159010 @default.
• W2076257029 cites W2026084160 @default.
• W2076257029 cites W2038815713 @default.
• W2076257029 cites W2042959228 @default.
• W2076257029 cites W2045087913 @default.
• W2076257029 cites W2047855715 @default.
• W2076257029 cites W2048888516 @default.
• W2076257029 cites W2057621960 @default.
• W2076257029 cites W2068823798 @default.
• W2076257029 cites W2072271669 @default.
• W2076257029 cites W2082972065 @default.
• W2076257029 cites W2083160633 @default.
• W2076257029 cites W2085697527 @default.
• W2076257029 cites W2102443531 @default.
• W2076257029 cites W2102509283 @default.
• W2076257029 cites W2105460105 @default.
• W2076257029 cites W2107277218 @default.
• W2076257029 cites W2118999469 @default.
• W2076257029 cites W2123779332 @default.
• W2076257029 cites W2132403568 @default.
• W2076257029 cites W2151503168 @default.
• W2076257029 cites W2153495469 @default.
• W2076257029 cites W2172279582 @default.
• W2076257029 doi "https://doi.org/10.1210/jc.2012-2838" @default.
• W2076257029 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3733859" @default.
• W2076257029 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23771924" @default.
• W2076257029 hasPublicationYear "2013" @default.
• W2076257029 type Work @default.
• W2076257029 sameAs 2076257029 @default.
• W2076257029 citedByCount "18" @default.
• W2076257029 countsByYear W20762570292013 @default.
• W2076257029 countsByYear W20762570292014 @default.
• W2076257029 countsByYear W20762570292015 @default.
• W2076257029 countsByYear W20762570292016 @default.
• W2076257029 countsByYear W20762570292017 @default.
• W2076257029 countsByYear W20762570292018 @default.
• W2076257029 countsByYear W20762570292019 @default.
• W2076257029 countsByYear W20762570292021 @default.
• W2076257029 countsByYear W20762570292022 @default.
• W2076257029 countsByYear W20762570292023 @default.
• W2076257029 crossrefType "journal-article" @default.
• W2076257029 hasAuthorship W2076257029A5007179832 @default.
• W2076257029 hasAuthorship W2076257029A5012314778 @default.
• W2076257029 hasAuthorship W2076257029A5013942288 @default.
• W2076257029 hasAuthorship W2076257029A5021925839 @default.
• W2076257029 hasAuthorship W2076257029A5023864103 @default.
• W2076257029 hasAuthorship W2076257029A5030754052 @default.
• W2076257029 hasAuthorship W2076257029A5031897654 @default.
• W2076257029 hasAuthorship W2076257029A5038356661 @default.
• W2076257029 hasAuthorship W2076257029A5038913575 @default.
• W2076257029 hasAuthorship W2076257029A5052712449 @default.
• W2076257029 hasAuthorship W2076257029A5054797823 @default.
• W2076257029 hasAuthorship W2076257029A5064644423 @default.
• W2076257029 hasAuthorship W2076257029A5075952597 @default.
• W2076257029 hasAuthorship W2076257029A5079972100 @default.
• W2076257029 hasAuthorship W2076257029A5089073198 @default.
• W2076257029 hasBestOaLocation W20762570291 @default.
• W2076257029 hasConcept C104317684 @default.
• W2076257029 hasConcept C109825262 @default.
• W2076257029 hasConcept C126322002 @default.
• W2076257029 hasConcept C134018914 @default.
• W2076257029 hasConcept C135763542 @default.
• W2076257029 hasConcept C153209595 @default.
• W2076257029 hasConcept C180754005 @default.
• W2076257029 hasConcept C502942594 @default.
• W2076257029 hasConcept C54355233 @default.
• W2076257029 hasConcept C71924100 @default.
• W2076257029 hasConcept C86803240 @default.
• W2076257029 hasConceptScore W2076257029C104317684 @default.
• W2076257029 hasConceptScore W2076257029C109825262 @default.
• W2076257029 hasConceptScore W2076257029C126322002 @default.
• W2076257029 hasConceptScore W2076257029C134018914 @default.

• next