Below are the most recent publications written about "Mutation" by people in Profiles.
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Nakayama Y, Kitaura A, Abdali SA, Nguyen TD, Yoshioka J. Mutations in the Txnip PPXY motifs protect against myocardial infarction despite enhanced protein stability. Am J Physiol Heart Circ Physiol. 2026 Jun 01; 330(6):H1732-H1748.
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Ahmad M, Alvi SS, Ahsan H, Perez C, Massey A, Kashyap VK, Chauhan N, Anning E, Tripathi MK, Kim DJ, Sahoo N, Oraby T, Yallapu MM, Khan MM, Sebastian MM, Chauhan SC, Hafeez BB. Ubiquitination of Oncogenic Mutant p53 via Attenuation of Ribosome Biogenesis Machinery Effectively Inhibits Pancreatic Tumor Growth. Mol Cancer Ther. 2026 Feb 04; 25(2):257-271.
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Bereshneh AH, Wilson KA, Pan X, Hannan SB, Cooper MA, Diaz J, Leon E, Moses TM, Azamian MS, Scott DA, Billie Au PY, Appendino JP, Scheffer IE, Kaspi A, Bahlo M, Hildebrand MS, Morgan AT, Ekure E, Shulman JM, Hildebrandt F, Posey JE, Kruszka P, Vilain E, Yamamoto S, Kanca O, Berger S, Bellen HJ. Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 Apr; 28(4):101685.
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Nieto-Estevez V, Varma P, Mirsadeghi S, Caballero J, Gamero-Alameda S, Hosseini A, Silvosa MJ, Thodeson DM, Goswami S, Lybrand ZR, Giugliano M, Navara C, Hsieh J. Dual developmental effects of ARX poly-alanine mutations on human cortical excitatory and inhibitory neurons. Cell Rep. 2026 Jan 27; 45(1):116746.
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Aki J, Papp SB, Polk B, Jeffreys S, Tompkins MP, Kalalah AA, Eppinger M, Zhang G, Guentzel MN, Chambers JP, Arulanandam BP, Yu JJ. Characterization of Pilin A and Thioredoxin A Mutant Strains of Acinetobacter baumannii, From a Transposon Insertion Library, for Pili Production and Virulence-Associated Properties. Microbiologyopen. 2025 Dec; 14(6):e70183.
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Ponsford MJ, Carne EM, Bramhall K, Ladell K, Perelygina L, Saw A, Miners K, Llewellyn-Lacey S, Kollnberger S, Tully I, Hughes S, Williams H, Kalavala M, Bigley V, Farewell D, Price DA, Walker SL, Sullivan KE, Jolles S. TAP-I Deficiency Presenting With Chronic Granulomatous Rubella Virus-Driven Cutaneous Ulceration: A Case Report and Scoping Literature Review. J Clin Immunol. 2025 Nov 27; 46(1):1.
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Haltom JA, Trovao NS, Guarnieri JW, Pan V, Singh U, Tsoy S, O'Leary CA, Bram Y, Widjaja GA, Cen Z, Meller R, Baylin SB, Moss WN, Nikolau BJ, Enguita FJ, Wallace DC, Beheshti A, Schwartz RE, Wurtele ES. Importance of De Novo Gene Evolution to Emerging Viral Threats: The ORF10 Strain-Restricted Orphan Gene of SARS-CoV-2 Promotes Pathogenesis. Mol Biol Evol. 2025 Oct 01; 42(10).
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Montes-Rodr?guez IM, Centeno-Girona H, P?rez-M?rtir SV, Rivera N, Cruz-Correa M. Actionable Genes and Carcinogenic Pathways for Gastric Cancer in Latinos. Cancer Med. 2025 Sep; 14(17):e71216.
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Yao S, Wei L, Hu Q, Liu S, Manojlovic Z, Fiorica PN, Long M, Zirpoli GR, Cai Q, Long J, Ping J, Barnard ME, Jin Y, Murakami M, Wang J, Zhu Q, Davis W, Chen J, Ondracek RP, Khoury T, Gandhi S, Takabe K, Ko N, Sanderson M, Hong CC, Bandera EV, Craig DW, Ambrosone CB, Palmer JR, Zheng W, Carpten JD. Mutational landscape of triple-negative breast cancer in African American women. Nat Genet. 2025 Sep; 57(9):2166-2176.
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Zhang W, Duong H, Jongkhajornpong P, Hang DTT, Pham H, Nguyen M, Choo C, Williams D, Nguyen X, Nguyen TD, Aguirre B, Khan S, Wadehra M, Tomatsu S, Aldave AJ. Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization. Am J Ophthalmol. 2025 Dec; 280:154-168.