Raul A. Urrutia, MD

Publications

• MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

  (Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X.) Am J Hum Genet. 2024 Nov 07;111(11):2392-2410 PMID: 39419027 PMCID: PMC11568763 SCOPUS ID: 2-s2.0-85207372821 10/18/2024

• Prognostic impact of donor mitochondrial genomic variants in myelodysplastic neoplasms after stem-cell transplantation.

  (Dong J, Arsang-Jang S, Zhang T, Chen Z, Bolon YT, Spellman S, Urrutia R, Auer P, Saber W.) J Hematol Oncol. 2024 Nov 04;17(1):104 PMID: 39497145 PMCID: PMC11533675 SCOPUS ID: 2-s2.0-85208516411 11/05/2024

• Changes in Daily Apparent Diffusion Coefficient on Fully Quantitative Magnetic Resonance Imaging Correlate With Established Genomic Pathways of Radiation Sensitivity and Reveal Novel Biologic Associations.

  (Hall WA, Mathison AJ, DeVoe E, Tschannen M, Wendt-Andrae J, Straza M, Awan M, Puckett LL, Lawton CAF, Schultz C, Urrutia R, Kerns S, Torres-Roca JF, Li XA, Erickson B, Nevalainen MT, Zimmermann MT, Paulson E.) Int J Radiat Oncol Biol Phys. 2024 Oct 01;120(2):570-578 PMID: 38819340 SCOPUS ID: 2-s2.0-85194948255 05/31/2024

• Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.

  (Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, Schwoerer JS.) JIMD Rep. 2024 May;65(3):144-155 PMID: 38736638 PMCID: PMC11078707 SCOPUS ID: 2-s2.0-85193389190 05/13/2024

• Cancer-associated polybromo-1 bromodomain 4 missense variants variably impact bromodomain ligand binding and cell growth suppression.

  (Bursch KL, Goetz CJ, Jiao G, Nuñez R, Olp MD, Dhiman A, Khurana M, Zimmermann MT, Urrutia RA, Dykhuizen EC, Smith BC.) J Biol Chem. 2024 Apr;300(4):107146 PMID: 38460939 PMCID: PMC11002309 SCOPUS ID: 2-s2.0-85189184192 03/10/2024

• Enhancing prognostic power in multiple myeloma using a plasma cell signature derived from single-cell RNA sequencing.

  (Li JR, Arsang-Jang S, Cheng Y, Sun F, D'Souza A, Dhakal B, Hari P, Huang Q, Auer P, Li Y, Urrutia R, Zhan F, Shaughnessy JD Jr, Janz S, Dong J, Cheng C.) Blood Cancer J. 2024 Mar 06;14(1):38 PMID: 38443358 PMCID: PMC10915134 SCOPUS ID: 2-s2.0-85186929795 03/06/2024

• Targeting NUPR1-dependent stress granules formation to induce synthetic lethality in KrasG12D-driven tumors.

  (Santofimia-Castaño P, Fraunhoffer N, Liu X, Bessone IF, di Magliano MP, Audebert S, Camoin L, Estaras M, Brenière M, Modesti M, Lomberk G, Urrutia R, Soubeyran P, Neira JL, Iovanna J.) EMBO Mol Med. 2024 Mar;16(3):475-505 PMID: 38360999 PMCID: PMC10940650 SCOPUS ID: 2-s2.0-85185320484 02/16/2024

• Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.

  (Dsouza NR, Cottrell CE, Davies OMT, Tollefson MM, Frieden IJ, Basel D, Urrutia R, Drolet BA, Zimmermann MT.) Life (Basel). 2024 Feb 23;14(3) PMID: 38541623 PMCID: PMC10971029 SCOPUS ID: 2-s2.0-85193266612 03/28/2024

• Verteporfin induces lipid peroxidation and ferroptosis in pancreatic cancer cells.

  (Zhou W, Lim A, Elmadbouh OHM, Edderkaoui M, Osipov A, Mathison AJ, Urrutia R, Liu T, Wang Q, Pandol SJ.) Free Radic Biol Med. 2024 Feb 20;212:493-504 PMID: 38184120 PMCID: PMC10906657 SCOPUS ID: 2-s2.0-85182384342 01/07/2024

• Mutant KRAS inhibitors enter the scene of precision therapeutics for pancreatic cancer

  (Pollin G, Lomberk GA, Mathison AJ, Zimmermann MT, Urrutia R.) Journal of Gastrointestinal Oncology. 31 August 2024;15(4):1996-2001 SCOPUS ID: 2-s2.0-85203321495 08/31/2024

• Ehmt2 inactivation in pancreatic epithelial cells shapes the transcriptional landscape and inflammation response of the whole pancreas.

  (Pollin G, Mathison AJ, de Assuncao TM, Thomas A, Zeighami A, Salmonson A, Liu H, Urrutia G, Vankayala P, Pandol SJ, Hong JC, Zimmermann MT, Iovanna J, Jin VX, Urrutia R, Lomberk G.) Front Genet. 2024;15:1412767 PMID: 38948355 PMCID: PMC11211573 SCOPUS ID: 2-s2.0-85197408751 07/01/2024

• Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.

  (Jorge SD, Chi YI, Mazaba JL, Haque N, Wagenknecht J, Smith BC, Volkman BF, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R.) Front Genet. 2023;14:1291307 PMID: 38090150 PMCID: PMC10715303 SCOPUS ID: 2-s2.0-85179362461 12/13/2023