Raul A. Urrutia, MD

Publications

• 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 Mar;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, Levrence 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

• 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

• Inorganic arsenic promotes luminal to basal transition and metastasis of breast cancer.

  (Danes JM, de Abreu ALP, Kerketta R, Huang Y, Palma FR, Gantner BN, Mathison AJ, Urrutia RA, Bonini MG.) FASEB J. 2020 12;34(12):16034-16048 PMID: 33047385 SCOPUS ID: 2-s2.0-85092336914 10/14/2020

• 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. 2020 Nov 23 PMID: 33226070 11/24/2020

• The Promise of Circulating Tumor DNA (ctDNA) in the Management of Early-Stage Colon Cancer: A Critical Review.

  (Chakrabarti S, Xie H, Urrutia R, Mahipal A.) Cancers (Basel). 2020 09 29;12(10) PMID: 33003583 PMCID: PMC7601010 10/03/2020

• ZZW-115-dependent inhibition of NUPR1 nuclear translocation sensitizes cancer cells to genotoxic agents.

  (Lan W, Santofimia-Castaño P, Swayden M, Xia Y, Zhou Z, Audebert S, Camoin L, Huang C, Peng L, Jiménez-Alesanco A, Velázquez-Campoy A, Abián O, Lomberk G, Urrutia R, Rizzuti B, Geli V, Soubeyran P, Neira JL, Iovanna J.) JCI Insight. 2020 09 17;5(18) PMID: 32780723 PMCID: PMC7526551 SCOPUS ID: 2-s2.0-85090785767 08/12/2020

• Targeting the CBP/β-Catenin Interaction to Suppress Activation of Cancer-Promoting Pancreatic Stellate Cells.

  (Che M, Kweon SM, Teo JL, Yuan YC, Melstrom LG, Waldron RT, Lugea A, Urrutia RA, Pandol SJ, Lai KKY.) Cancers (Basel). 2020 Jun 05;12(6) PMID: 32516943 PMCID: PMC7352534 06/11/2020

• Single-cell transcriptome reveals the novel role of T-bet in suppressing the immature NK gene signature.

  (Yang C, Siebert JR, Burns R, Zheng Y, Mei A, Bonacci B, Wang D, Urrutia RA, Riese MJ, Rao S, Carlson KS, Thakar MS, Malarkannan S.) Elife. 2020 05 14;9 PMID: 32406817 PMCID: PMC7255804 SCOPUS ID: 2-s2.0-85085630468 05/15/2020