FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2275322432> ?p ?o ?g. }

• W2275322432 endingPage "917" @default.
• W2275322432 startingPage "909" @default.
• W2275322432 abstract "Germline inactivating mutations of isoform 4 of phosphodiesterase (PDE) 11A (coded by the PDE11A gene) have been associated with familial adrenocortical tumors and familial testicular cancer. Testicular tissue is unique in expressing all four isoforms of PDE11A. In a prior candidate gene study of 94 familial testicular germ cell tumor (TGCT) subjects, we identified a significant association between the presence of functionally abnormal variants in PDE11A and familial TGCT risk. To validate this novel observation, we sequenced the PDE11A coding region in 259 additional TGCT patients (both familial and sporadic) and 363 controls. We identified 55 PDE11A variants: 20 missense, four splice-site, two nonsense, seven synonymous, and 22 intronic. Ten missense variants were novel; nine occurred in transcript variant 4 and one in transcript variant 3. Five rare mutations (p.F258Y, p.G291R, p.V820M, p.R545X, and p.K568R) were present only in cases and were significantly more common in cases vs controls ( P =0.0037). The latter two novel variants were functionally characterized and shown to be functionally inactivating, resulting in reduced PDE activity and increased cAMP levels. In further analysis of this cohort, we focused on white participants only to minimize confounding due to population stratification. This study builds upon our prior reports implicating PDE11A variants in familial TGCT, provides the first independent validation of those findings, extends that work to sporadic testicular cancer, demonstrates that these variants are uncommonly but reproducibly associated with TGCT, and refines our understanding regarding which specific inactivating PDE11A variants are most likely to be associated with TGCT risk." @default.
• W2275322432 created "2016-06-24" @default.
• W2275322432 creator A5007179832 @default.
• W2275322432 creator A5023785428 @default.
• W2275322432 creator A5026862922 @default.
• W2275322432 creator A5029584334 @default.
• W2275322432 creator A5031897654 @default.
• W2275322432 creator A5032443275 @default.
• W2275322432 creator A5034058169 @default.
• W2275322432 creator A5038356661 @default.
• W2275322432 creator A5056991781 @default.
• W2275322432 creator A5061602052 @default.
• W2275322432 creator A5072490052 @default.
• W2275322432 creator A5086610185 @default.
• W2275322432 creator A5087166167 @default.
• W2275322432 creator A5088723856 @default.
• W2275322432 creator A5089073198 @default.
• W2275322432 date "2015-12-01" @default.
• W2275322432 modified "2023-10-13" @default.
• W2275322432 title "Rare inactivating PDE11A variants associated with testicular germ cell tumors" @default.
• W2275322432 cites W121401747 @default.
• W2275322432 cites W1496259696 @default.
• W2275322432 cites W1964230979 @default.
• W2275322432 cites W1974164822 @default.
• W2275322432 cites W1986960957 @default.
• W2275322432 cites W2002747495 @default.
• W2275322432 cites W2009917029 @default.
• W2275322432 cites W2015298632 @default.
• W2275322432 cites W2024539109 @default.
• W2275322432 cites W2026084160 @default.
• W2275322432 cites W2033756310 @default.
• W2275322432 cites W2040951492 @default.
• W2275322432 cites W2045087913 @default.
• W2275322432 cites W2046031589 @default.
• W2275322432 cites W2050809984 @default.
• W2275322432 cites W2055869166 @default.
• W2275322432 cites W2057621960 @default.
• W2275322432 cites W2070742943 @default.
• W2275322432 cites W2071538010 @default.
• W2275322432 cites W2076257029 @default.
• W2275322432 cites W2083160633 @default.
• W2275322432 cites W2115003624 @default.
• W2275322432 cites W2120834681 @default.
• W2275322432 cites W2124127909 @default.
• W2275322432 cites W2131809066 @default.
• W2275322432 cites W2132403568 @default.
• W2275322432 cites W2143540684 @default.
• W2275322432 cites W2151503168 @default.
• W2275322432 cites W2153495469 @default.
• W2275322432 cites W2160995259 @default.
• W2275322432 cites W2161633633 @default.
• W2275322432 cites W2164927959 @default.
• W2275322432 cites W2332224961 @default.
• W2275322432 cites W2337777109 @default.
• W2275322432 doi "https://doi.org/10.1530/erc-15-0034" @default.
• W2275322432 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5812348" @default.
• W2275322432 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26459559" @default.
• W2275322432 hasPublicationYear "2015" @default.
• W2275322432 type Work @default.
• W2275322432 sameAs 2275322432 @default.
• W2275322432 citedByCount "19" @default.
• W2275322432 countsByYear W22753224322016 @default.
• W2275322432 countsByYear W22753224322017 @default.
• W2275322432 countsByYear W22753224322018 @default.
• W2275322432 countsByYear W22753224322019 @default.
• W2275322432 countsByYear W22753224322020 @default.
• W2275322432 countsByYear W22753224322021 @default.
• W2275322432 countsByYear W22753224322022 @default.
• W2275322432 countsByYear W22753224322023 @default.
• W2275322432 crossrefType "journal-article" @default.
• W2275322432 hasAuthorship W2275322432A5007179832 @default.
• W2275322432 hasAuthorship W2275322432A5023785428 @default.
• W2275322432 hasAuthorship W2275322432A5026862922 @default.
• W2275322432 hasAuthorship W2275322432A5029584334 @default.
• W2275322432 hasAuthorship W2275322432A5031897654 @default.
• W2275322432 hasAuthorship W2275322432A5032443275 @default.
• W2275322432 hasAuthorship W2275322432A5034058169 @default.
• W2275322432 hasAuthorship W2275322432A5038356661 @default.
• W2275322432 hasAuthorship W2275322432A5056991781 @default.
• W2275322432 hasAuthorship W2275322432A5061602052 @default.
• W2275322432 hasAuthorship W2275322432A5072490052 @default.
• W2275322432 hasAuthorship W2275322432A5086610185 @default.
• W2275322432 hasAuthorship W2275322432A5087166167 @default.
• W2275322432 hasAuthorship W2275322432A5088723856 @default.
• W2275322432 hasAuthorship W2275322432A5089073198 @default.
• W2275322432 hasBestOaLocation W22753224321 @default.
• W2275322432 hasConcept C104317684 @default.
• W2275322432 hasConcept C109825262 @default.
• W2275322432 hasConcept C121608353 @default.
• W2275322432 hasConcept C126322002 @default.
• W2275322432 hasConcept C2776212926 @default.
• W2275322432 hasConcept C2780989783 @default.
• W2275322432 hasConcept C2911180711 @default.
• W2275322432 hasConcept C501734568 @default.
• W2275322432 hasConcept C54355233 @default.
• W2275322432 hasConcept C71924100 @default.
• W2275322432 hasConcept C75563809 @default.
• W2275322432 hasConcept C86803240 @default.

• next