FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1991243900> ?p ?o ?g. }

• W1991243900 abstract "Pancreatic cancer is a highly lethal cancer with few well established risk factors. PanScan, a genome wide association study (GWAS) of pancreatic cancer has identified four pancreatic cancer susceptibility loci in populations of European ancestry. One of these is in a multi cancer locus on chr5p15.33 where the most significant SNP from the GWAS (rs401681, P=3.7x10-7, ORAllele=1.19) lies in a region containing two genes, TERT and CLPTM1L. The TERT gene encodes the catalytic subunit of telomerase, well known for its essential role in maintaining telomere ends. The function of CLPTM1L is not as clear, although it has been proposed to play a role in apoptosis. It is predicted to encode a protein with 6 transmembrane (TM) domains and two large hydrophilic domains: a loop of 253 aa between the first and second TM domains, and a C-terminal tail of 89 aa. We have performed imputation to fine-map the signal to a SNP three orders of magnitude more significant than the GWAS SNP (PImputed=1.4x10-10, ORAllele=1.30). As this SNP is located in the CLPTM1L gene we have performed a series of experiments to investigate the function of the CLPTM1L gene and its encoded protein. Immunofluorescence analysis in pancreatic cancer cells (PANC-1) indicates that it localizes to the endoplasmic reticulum. Affinity purification and mass spectrometry (HEK-293T, hTERT-HPNE and PANC-1 cells) identified MYH9, a non-muscle heavy chain myosin, as a potential interacting protein. The interaction has been validated by co-immunoprecipitation and co-localization experiments. To examine if CLPTM1L plays a role in growth control, we created stable PANC-1 cell lines overexpressing the full length CLPTM1L gene as well as two deletions, a C-terminal deletion and a loop deletion, and assayed growth in vitro and in vivo. Cell lines overexpressing full length CLPTM1L grow faster in vitro and in vivo as compared to cells containing empty vector. Interestingly, the two CLPTM1L mutants abolish this effect. Furthermore, we have shown by RNA-seq that the CLPTM1L gene is overexpressed in pancreatic tumors as compared to normal pancreatic tissues. Our results indicate that CLPTM1L may play a role in the control of cell growth and oncogenesis in the pancreas. Our current efforts aim at further characterizing the function of CLPTM1L and to correlate pancreatic cancer risk variants on 5p15.33 to molecular phenotypes to attempt to explain the underlying biology of the risk. Citation Format: Jinping Jia, Irene Collins, Marta Dzyadyk, Abbey Thompson, Adam Cheuk, Hemang Parikh, Zhaoming Wang, Chris Westlake, Allen Bosley, Gloria Petersen, Thorkell Andresson, Laufey Amundadottir. Functional characterization of the pancreatic cancer TERT-CLPTM1L risk locus on chr5p15.33. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 2556. doi:10.1158/1538-7445.AM2013-2556 Note: This abstract was not presented at the AACR Annual Meeting 2013 because the presenter was unable to attend." @default.
• W1991243900 created "2016-06-24" @default.
• W1991243900 creator A5003681573 @default.
• W1991243900 creator A5007642018 @default.
• W1991243900 creator A5009570886 @default.
• W1991243900 creator A5023136681 @default.
• W1991243900 creator A5042493218 @default.
• W1991243900 creator A5045550247 @default.
• W1991243900 creator A5046056476 @default.
• W1991243900 creator A5047456350 @default.
• W1991243900 creator A5048875579 @default.
• W1991243900 creator A5067051548 @default.
• W1991243900 creator A5077990667 @default.
• W1991243900 creator A5085251424 @default.
• W1991243900 date "2013-04-15" @default.
• W1991243900 modified "2023-09-26" @default.
• W1991243900 title "Abstract 2556: Functional characterization of the pancreatic cancer TERT-CLPTM1L risk locus on chr5p15.33." @default.
• W1991243900 doi "https://doi.org/10.1158/1538-7445.am2013-2556" @default.
• W1991243900 hasPublicationYear "2013" @default.
• W1991243900 type Work @default.
• W1991243900 sameAs 1991243900 @default.
• W1991243900 citedByCount "0" @default.
• W1991243900 crossrefType "proceedings-article" @default.
• W1991243900 hasAuthorship W1991243900A5003681573 @default.
• W1991243900 hasAuthorship W1991243900A5007642018 @default.
• W1991243900 hasAuthorship W1991243900A5009570886 @default.
• W1991243900 hasAuthorship W1991243900A5023136681 @default.
• W1991243900 hasAuthorship W1991243900A5042493218 @default.
• W1991243900 hasAuthorship W1991243900A5045550247 @default.
• W1991243900 hasAuthorship W1991243900A5046056476 @default.
• W1991243900 hasAuthorship W1991243900A5047456350 @default.
• W1991243900 hasAuthorship W1991243900A5048875579 @default.
• W1991243900 hasAuthorship W1991243900A5067051548 @default.
• W1991243900 hasAuthorship W1991243900A5077990667 @default.
• W1991243900 hasAuthorship W1991243900A5085251424 @default.
• W1991243900 hasConcept C104317684 @default.
• W1991243900 hasConcept C106208931 @default.
• W1991243900 hasConcept C121608353 @default.
• W1991243900 hasConcept C135763542 @default.
• W1991243900 hasConcept C139275648 @default.
• W1991243900 hasConcept C153209595 @default.
• W1991243900 hasConcept C153911025 @default.
• W1991243900 hasConcept C174510640 @default.
• W1991243900 hasConcept C2780210213 @default.
• W1991243900 hasConcept C502942594 @default.
• W1991243900 hasConcept C54355233 @default.
• W1991243900 hasConcept C84597430 @default.
• W1991243900 hasConcept C86803240 @default.
• W1991243900 hasConceptScore W1991243900C104317684 @default.
• W1991243900 hasConceptScore W1991243900C106208931 @default.
• W1991243900 hasConceptScore W1991243900C121608353 @default.
• W1991243900 hasConceptScore W1991243900C135763542 @default.
• W1991243900 hasConceptScore W1991243900C139275648 @default.
• W1991243900 hasConceptScore W1991243900C153209595 @default.
• W1991243900 hasConceptScore W1991243900C153911025 @default.
• W1991243900 hasConceptScore W1991243900C174510640 @default.
• W1991243900 hasConceptScore W1991243900C2780210213 @default.
• W1991243900 hasConceptScore W1991243900C502942594 @default.
• W1991243900 hasConceptScore W1991243900C54355233 @default.
• W1991243900 hasConceptScore W1991243900C84597430 @default.
• W1991243900 hasConceptScore W1991243900C86803240 @default.
• W1991243900 hasLocation W19912439001 @default.
• W1991243900 hasOpenAccess W1991243900 @default.
• W1991243900 hasPrimaryLocation W19912439001 @default.
• W1991243900 hasRelatedWork W1561103036 @default.
• W1991243900 hasRelatedWork W1968031498 @default.
• W1991243900 hasRelatedWork W1971581466 @default.
• W1991243900 hasRelatedWork W1989032020 @default.
• W1991243900 hasRelatedWork W1997315764 @default.
• W1991243900 hasRelatedWork W2054936253 @default.
• W1991243900 hasRelatedWork W2065640045 @default.
• W1991243900 hasRelatedWork W2071598666 @default.
• W1991243900 hasRelatedWork W2122092089 @default.
• W1991243900 hasRelatedWork W2152619207 @default.
• W1991243900 hasRelatedWork W2296010392 @default.
• W1991243900 hasRelatedWork W2316559287 @default.
• W1991243900 hasRelatedWork W2332111463 @default.
• W1991243900 hasRelatedWork W2333707271 @default.
• W1991243900 hasRelatedWork W2404904035 @default.
• W1991243900 hasRelatedWork W2478672362 @default.
• W1991243900 hasRelatedWork W2527862138 @default.
• W1991243900 hasRelatedWork W2811199056 @default.
• W1991243900 hasRelatedWork W2887788748 @default.
• W1991243900 hasRelatedWork W2960915641 @default.
• W1991243900 isParatext "false" @default.
• W1991243900 isRetracted "false" @default.
• W1991243900 magId "1991243900" @default.
• W1991243900 workType "article" @default.