Raul A. Urrutia, MD

Publications

• Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.

  (Tripathi S, Dsouza NR, Urrutia R, Zimmermann MT.) Bioinformatics. 2021 06 16;37(10):1367-1375 PMID: 33226070 PMCID: PMC8208742 SCOPUS ID: 2-s2.0-85108386153 11/24/2020

• BMI1 maintains the Treg epigenomic landscape to prevent inflammatory bowel disease.

  (Gonzalez MM, Bamidele AO, Svingen PA, Sagstetter MR, Smyrk TC, Gaballa JM, Hamdan FH, Kosinsky RL, Gibbons HR, Sun Z, Ye Z, Nair A, Ramos GP, Neto MBB, Wixom AQ, Mathison AJ, Johnsen SA, Urrutia R, Faubion WA Jr.) J Clin Invest. 2021 Jun 15;131(12) PMID: 34128475 PMCID: PMC8203461 SCOPUS ID: 2-s2.0-85108220626 06/16/2021

• Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

  (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Orphanet J Rare Dis. 2021 Jun 01;16(1):247 PMID: 34074320 PMCID: PMC8170813 SCOPUS ID: 2-s2.0-85107273180 06/03/2021

• Corrigendum to: Homotypic cell cannibalism, a cell-death process regulated by the nuclear protein 1, opposes to metastasis in pancreatic cancer (EMBO Molecular Medicine, (2012), 4, 9, (964-979), 10.1002/emmm.201201255)

  (Cano CE, José Sandí M, Hamidi T, Calvo EL, Turrini O, Bartholin L, Loncle C, Secq V, Garcia S, Lomberk G, Kroemer G, Urrutia R, Iovanna JL.) EMBO Molecular Medicine. 7 May 2021;13(5) SCOPUS ID: 2-s2.0-85105133639 05/07/2021

• SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

  (Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs K, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez DS, Agharahimi A, Myint-Hpu K, Dropulic L, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MN, Niemela JE, Stoddard JL, Kuhns DB, Urrutia R, Rosenzweig S, Walkiewicz MA, Murphy P, Notarangelo LD.) Blood. 2021 Apr 19 PMID: 33876203 04/21/2021

• A GATA6-centred gene regulatory network involving HNFs and ΔNp63 controls plasticity and immune escape in pancreatic cancer.

  (Kloesch B, Ionasz V, Paliwal S, Hruschka N, Martinez de Villarreal J, Öllinger R, Mueller S, Dienes HP, Schindl M, Gruber ES, Stift J, Herndler-Brandstetter D, Lomberk GA, Seidler B, Saur D, Rad R, Urrutia RA, Real FX, Martinelli P.) Gut. 2021 Apr 12 PMID: 33846140 04/14/2021

• Metabolomic profiling of pancreatic adenocarcinoma reveals key features driving clinical outcome and drug resistance.

  (Kaoutari AE, Fraunhoffer NA, Hoare O, Teyssedou C, Soubeyran P, Gayet O, Roques J, Lomberk G, Urrutia R, Dusetti N, Iovanna J.) EBioMedicine. 2021 Apr;66:103332 PMID: 33862584 PMCID: PMC8054161 SCOPUS ID: 2-s2.0-85104049834 04/17/2021

• 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.) Genet Med. 2021 03;23(3):498-507 PMID: 33144682 SCOPUS ID: 2-s2.0-85094871921 11/05/2020

• Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

  (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Orphanet J Rare Dis. 2021 02 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021

• LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth.

  (Oliver GR, Marcano-Bonilla S, Quist J, Tolosa EJ, Iguchi E, Swanson AA, Hoppman NL, Schwab T, Sigafoos A, Prodduturi N, Voss JS, Knight SM, Zhang J, Fadra N, Urrutia R, Zimmerman M, Egan JB, Bilyeu AG, Jen J, Veras E, Al-Safi R, Block M, Kerr S, Fernandez-Zapico ME, Schoolmeester JK, Klee EW.) PLoS One. 2021;16(5):e0250518 PMID: 34033669 PMCID: PMC8148365 SCOPUS ID: 2-s2.0-85106573389 05/26/2021

• Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

  (Zimmermann MT, Mathison AJ, Stodola T, Evans DB, Abrudan JL, Demos W, Tschannen M, Aldakkak M, Geurts J, Lomberk G, Tsai S, Urrutia R.) Front Oncol. 2021;11:606820 PMID: 33747920 PMCID: PMC7973372 SCOPUS ID: 2-s2.0-85102941394 03/23/2021

• POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

  (Nichols-Vinueza DX, Delmonte OM, Bundy V, Bosticardo M, Zimmermann MT, Dsouza NR, Pala F, Dobbs K, Stoddard J, Niemela JE, Kuehn HS, Keller MD, Rueda CM, Abraham RS, Urrutia R, Rosenzweig SD, Notarangelo LD.) Journal of Clinical Immunology. January 2021;41(1):270-273 SCOPUS ID: 2-s2.0-85094912585 01/01/2021