Below are the most recent publications written about "Mutation" by people in Profiles.
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Paes T, Buelvas Mebarak J, Magnotto JC, Stamatiades GA, Kuang Y, Paweletz CP, Laws ER, Grosek N, Carroll RS, Jeselsohn R, Mohan DR, Marcondes Lerario A, Truong MT, Bi WL, Reardon DA, Meredith DM, Kaiser UB, Abreu AP. Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):1166-1176.
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van der Heiden AD, Pensch R, Agger S, Gardner HL, Hendricks W, Zismann V, Wong S, Briones N, Turner B, Forsberg-Nilsson K, London C, Lindblad-Toh K, Arendt ML. Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival. Sci Rep. 2025 Feb 08; 15(1):4724.
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Hunanyan AS, Verma A, Bidzimou MT, Biswas DD, Da Cruz E, Srour MK, Marek J, Hume C, Elmallah MK, Landstrom AP, Mikati MA. Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation. Epilepsia. 2025 Mar; 66(3):899-913.
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Azzolino VN, Shaqra AM, Ali A, Kurt Yilmaz N, Schiffer CA. Structural Analysis of Inhibitor Binding to Enterovirus-D68 3C Protease. Viruses. 2025 Jan 08; 17(1).
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Viswanathan MC, Dutta D, Kronert WA, Chitre K, Padr?n R, Craig R, Bernstein SI, Cammarato A. Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments. Genetics. 2025 Jan 08; 229(1):1-34.
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Nguyen THH, Vu GH, Nguyen TT, Nguyen TA, Tran VU, Vu LT, Nguyen GTH, Nguyen ND, Tran TH, Nguyen VTC, Nguyen TD, Nguyen TH, Vo DH, Van TTV, Do TT, Le MP, Huynh LAK, Nguyen DS, Tang HS, Nguyen HN, Phan MD, Giang H, Tu LN, Tran LS. Combination of Hotspot Mutations With Methylation and Fragmentomic Profiles to Enhance Multi-Cancer Early Detection. Cancer Med. 2025 Jan; 14(1):e70575.
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Ngo HHT, Pham TPT, Hoang HTT, Bui DH, Phan HTT, Nguyen QC, Duong TC, Bui HT, Nguyen HTT, Le MQT, Dang AD, McFarland W, Truong HM, Pham TH. Detection of Antiretroviral Drug-Resistant Mutations and HIV-1 Subtypes in Circulation Among Men Who Have Sex With Men, SEM Females, and Female Sex Workers: Results of Vietnam's HIV Sentinel Surveillance Plus System, 2018-2020. J Acquir Immune Defic Syndr. 2025 Jan 01; 98(1):29-36.
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Ali SA, Perera G, Laird J, Batorsky R, Maron MS, Rivas VN, Stern JA, Harris S, Chin MT. Single Cell Transcriptomic Profiling of MYBPC3-Associated Hypertrophic Cardiomyopathy Across Species Reveals Conservation of Biological Process But Not Gene Expression. J Am Heart Assoc. 2025 Jan 07; 14(1):e035780.
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Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R. Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. Hum Gene Ther. 2024 Jan; 36(1-2):45-56.
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Seddon JM, De D, Grunenkovaite L, Ferrara D. Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications. Invest Ophthalmol Vis Sci. 2024 Dec 02; 65(14):31.