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A rare germline CDKN2A variant (47T>G; p16-L16R) predisposes carriers to pancreatic cancer by reducing cell cycle inhibition.
Horn IP, Marks DL, Koenig AN, Hogenson TL, Almada LL, Goldstein LE, Romecin Duran PA, Vera R, Vrabel AM, Cui G, Rabe KG, Bamlet WR, Mer G, Sicotte H, Zhang C, Li H, Petersen GM, Fernandez-Zapico ME. Horn IP, et al. Among authors: vrabel am. J Biol Chem. 2021 Jan-Jun;296:100634. doi: 10.1016/j.jbc.2021.100634. Epub 2021 Apr 3. J Biol Chem. 2021. PMID: 33823155 Free PMC article.
Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma.
Egan JB, Marks DL, Hogenson TL, Vrabel AM, Sigafoos AN, Tolosa EJ, Carr RM, Safgren SL, Hesles EE, Almada LL, Romecin-Duran PA, Iguchi E, Ala'Aldeen A, Kocher JA, Oliver GR, Prodduturi N, Mead DW, Hossain A, Huneke NE, Tagtow CM, Ailawadhi S, Ansell SM, Banck MS, Bryce AH, Carballido EM, Chanan-Khan AA, Curtis KK, Resnik E, Gawryletz CD, Go RS, Halfdanarson TR, Ho TH, Joseph RW, Kapoor P, Mansfield AS, Meurice N, Nageswara Rao AA, Nowakowski GS, Pardanani A, Parikh SA, Cheville JC, Feldman AL, Ramanathan RK, Robinson SI, Tibes R, Finnes HD, McCormick JB, McWilliams RR, Jatoi A, Patnaik MM, Silva AC, Wieben ED, McAllister TM, Rumilla KM, Kerr SE, Lazaridis KN, Farrugia G, Stewart AK, Clark KJ, Kennedy EJ, Klee EW, Borad MJ, Fernandez-Zapico ME. Egan JB, et al. Among authors: vrabel am. JCO Precis Oncol. 2017;2017:PO.17.00018. doi: 10.1200/PO.17.00018. Epub 2017 Aug 1. JCO Precis Oncol. 2017. PMID: 30761385 Free PMC article.
GLI1/GLI2 functional interplay is required to control Hedgehog/GLI targets gene expression.
Tolosa EJ, Fernandez-Barrena MG, Iguchi E, McCleary-Wheeler AL, Carr RM, Almada LL, Flores LF, Vera RE, Alfonse GW, Marks DL, Hogenson TL, Vrabel AM, Horn IP, Koenig AN, Safgren SL, Sigafoos AN, Erkan M, Romecin-Duran PA, Sarabia Gonzalez A, Zhou B, Javelaud D, Marsaud V, Graham RP, Mauviel A, Elsawa SF, Fernandez-Zapico ME. Tolosa EJ, et al. Among authors: vrabel am. Biochem J. 2020 Sep 18;477(17):3131-3145. doi: 10.1042/BCJ20200335. Biochem J. 2020. PMID: 32766732
The transcription factor GLI1 mediates TGFβ1 driven EMT in hepatocellular carcinoma via a SNAI1-dependent mechanism.
Zheng X, Vittar NB, Gai X, Fernandez-Barrena MG, Moser CD, Hu C, Almada LL, McCleary-Wheeler AL, Elsawa SF, Vrabel AM, Shire AM, Comba A, Thorgeirsson SS, Kim Y, Liu Q, Fernandez-Zapico ME, Roberts LR. Zheng X, et al. Among authors: vrabel am. PLoS One. 2012;7(11):e49581. doi: 10.1371/journal.pone.0049581. Epub 2012 Nov 19. PLoS One. 2012. PMID: 23185371 Free PMC article.
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