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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: sigafoos an. 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.
Genome Engineering with TALE and CRISPR Systems in Neuroscience.
Lee HB, Sundberg BN, Sigafoos AN, Clark KJ. Lee HB, et al. Among authors: sigafoos an. Front Genet. 2016 Apr 6;7:47. doi: 10.3389/fgene.2016.00047. eCollection 2016. Front Genet. 2016. PMID: 27092173 Free PMC article. Review.
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, Klee EW. Boczek NJ, et al. Among authors: sigafoos an. Clin Case Rep. 2016 Aug 15;4(9):885-95. doi: 10.1002/ccr3.655. eCollection 2016 Sep. Clin Case Rep. 2016. PMID: 27648269 Free PMC article.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Cousin MA, et al. Among authors: sigafoos an. J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18. J Clin Immunol. 2018. PMID: 29671115
TFII-I-mediated polymerase pausing antagonizes GLI2 induction by TGFβ.
McCleary-Wheeler AL, Paradise BD, Almada LL, Carlson AJ, Marks DL, Vrabel A, Vera RE, Sigafoos AN, Olson RL, Fernandez-Zapico ME. McCleary-Wheeler AL, et al. Among authors: sigafoos an. Nucleic Acids Res. 2020 Jul 27;48(13):7169-7181. doi: 10.1093/nar/gkaa476. Nucleic Acids Res. 2020. PMID: 32544250 Free PMC article.
Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.
Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW. Pinto E Vairo F, et al. Among authors: sigafoos an. Thromb Res. 2020 Nov;195:187-189. doi: 10.1016/j.thromres.2020.07.014. Epub 2020 Jul 9. Thromb Res. 2020. PMID: 32721632 No abstract available.
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: sigafoos an. Biochem J. 2020 Sep 18;477(17):3131-3145. doi: 10.1042/BCJ20200335. Biochem J. 2020. PMID: 32766732
Impact of integrated translational research on clinical exome sequencing.
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Klee EW, et al. Among authors: sigafoos an. Genet Med. 2021 Mar;23(3):498-507. doi: 10.1038/s41436-020-01005-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144682 Free article.
24 results