Urrutia R - Search Results

1

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. Singh E, et al. Among authors: urrutia r. JIMD Rep. 2024 Apr 8;65(3):144-155. doi: 10.1002/jmd2.12419. eCollection 2024 May. JIMD Rep. 2024. PMID: 38736638 Free PMC article.

2

Time to pregnancy recognition among users of an FDA-cleared fertility application.

van Lamsweerde A, Pearson JT, Urrutia R, Gemzell-Danielsson K, Kopp Kallner H, Nelson A, Benhar E, Favaro C, Berglund Scherwitzl E, Scherwitzl R. van Lamsweerde A, et al. Among authors: urrutia r. J Obstet Gynaecol. 2024 Dec;44(1):2337687. doi: 10.1080/01443615.2024.2337687. Epub 2024 Apr 17. J Obstet Gynaecol. 2024. PMID: 38630958 Free article.

3

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. Dsouza NR, et al. Among authors: urrutia r. Life (Basel). 2024 Feb 23;14(3):297. doi: 10.3390/life14030297. Life (Basel). 2024. PMID: 38541623 Free PMC article.

4

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 L, Salmonson A, Liu H, Urrutia G, Vankayala P, Pandol SJ, Zimmermann MT, Iovanna J, Jin VX, Urrutia R, Lomberk G. Pollin G, et al. Among authors: urrutia r. bioRxiv [Preprint]. 2024 Mar 16:2024.03.14.584700. doi: 10.1101/2024.03.14.584700. bioRxiv. 2024. PMID: 38529489 Free PMC article. Preprint.

5

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. Bursch KL, et al. Among authors: urrutia ra. J Biol Chem. 2024 Apr;300(4):107146. doi: 10.1016/j.jbc.2024.107146. Epub 2024 Mar 7. J Biol Chem. 2024. PMID: 38460939 Free PMC article.

6

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. Li JR, et al. Among authors: urrutia r. Blood Cancer J. 2024 Mar 6;14(1):38. doi: 10.1038/s41408-024-01024-8. Blood Cancer J. 2024. PMID: 38443358 Free PMC article.

7

Targeting NUPR1-dependent stress granules formation to induce synthetic lethality in Kras^G12D-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. Santofimia-Castaño P, et al. Among authors: urrutia r. EMBO Mol Med. 2024 Mar;16(3):475-505. doi: 10.1038/s44321-024-00032-2. Epub 2024 Feb 15. EMBO Mol Med. 2024. PMID: 38360999 Free PMC article.

8

Mercury distribution in the coastal zone of Central Chile, Southeast Pacific: A comprehensive assessment of seawater, sediment, and biota.

Chandía C, Salamanca M, Hernández A, Urrutia R. Chandía C, et al. Among authors: urrutia r. Mar Pollut Bull. 2024 Feb;199:116005. doi: 10.1016/j.marpolbul.2023.116005. Epub 2024 Jan 13. Mar Pollut Bull. 2024. PMID: 38219292

9

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. Zhou W, et al. Among authors: urrutia r. Free Radic Biol Med. 2024 Feb 20;212:493-504. doi: 10.1016/j.freeradbiomed.2024.01.003. Epub 2024 Jan 4. Free Radic Biol Med. 2024. PMID: 38184120 Free article.

10

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. Jorge SD, et al. Among authors: urrutia r. Front Genet. 2023 Nov 28;14:1291307. doi: 10.3389/fgene.2023.1291307. eCollection 2023. Front Genet. 2023. PMID: 38090150 Free PMC article.

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