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Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma.
Williams EA, Vegas I, El-Senduny FF, Zhang J, Mata DA, Hiemenz MC, Hughes SR, Sa BC, Kraft GP, Gorbatov N, Foley-Peres K, Sanchez EZ, Milikowski C, Williams KJ, Ross JS, Kurzrock R, Montgomery EA, Lombard DB, Kumar S. Williams EA, et al. Among authors: lombard db. Am J Surg Pathol. 2024 Feb 19. doi: 10.1097/PAS.0000000000002191. Online ahead of print. Am J Surg Pathol. 2024. PMID: 38369783
SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.
Yuan T, Kumar S, Skinner M, Victor-Joseph R, Abuaita M, Keijer J, Zhang J, Kunkel TJ, Liu Y, Petrunak EM, Saunders TL, Lieberman AP, Stuckey JA, Neamati N, Al-Murshedi F, Alfadhel M, Spelbrink JN, Rodenburg R, de Boer VCJ, Lombard DB. Yuan T, et al. Among authors: lombard db. bioRxiv [Preprint]. 2023 Dec 8:2023.12.06.570371. doi: 10.1101/2023.12.06.570371. bioRxiv. 2023. PMID: 38105987 Free PMC article. Preprint.
Cdc73 protects Notch-induced T-cell leukemia cells from DNA damage and mitochondrial stress.
Melnick AF, Mullin C, Lin K, McCarter AC, Liang S, Liu YE, Wang Q, Jerome NA, Choe E, Kunnath N, Bodanapu G, Akter F, Magnuson B, Kumar S, Lombard DB, Muntean AG, Ljungman M, Sekiguchi J, Ryan RJH, Chiang MY. Melnick AF, et al. Among authors: lombard db. Blood. 2023 Dec 21;142(25):2159-2174. doi: 10.1182/blood.2023020144. Blood. 2023. PMID: 37616559
Epigenetic mechanisms of cadmium-induced nephrotoxicity.
Guo AH, Kumar S, Lombard DB. Guo AH, et al. Among authors: lombard db. Curr Opin Toxicol. 2022 Dec;32:100372. doi: 10.1016/j.cotox.2022.100372. Epub 2022 Oct 21. Curr Opin Toxicol. 2022. PMID: 37193357 Free PMC article.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Rebelo AP, et al. Among authors: lombard db. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158. Brain. 2023. PMID: 37170631
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
DeBoy EA, Tassia MG, Schratz KE, Yan SM, Cosner ZL, McNally EJ, Gable DL, Xiang Z, Lombard DB, Antonarakis ES, Gocke CD, McCoy RC, Armanios M. DeBoy EA, et al. Among authors: lombard db. N Engl J Med. 2023 Jun 29;388(26):2422-2433. doi: 10.1056/NEJMoa2300503. Epub 2023 May 4. N Engl J Med. 2023. PMID: 37140166 Free PMC article.
134 results