Below are the most recent publications written about "Mutation" by people in Profiles.
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Cordero C, Mehta KPM, Weaver TM, Ling JA, Freudenthal BD, Cortez D, Roberts SA. Contributing factors to the oxidation-induced mutational landscape in human cells. Nat Commun. 2024 Dec 23; 15(1):10722.
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Valerie NCK, Sanjiv K, Mortusewicz O, Zhang SM, Alam S, Pires MJ, Stigsdotter H, Rasti A, Langelier MF, Rehling D, Throup A, Purewal-Sidhu O, Desroses M, Onireti J, Wakchaure P, Alml?f I, Bostr?m J, Bevc L, Benzi G, Stenmark P, Pascal JM, Helleday T, Page BDG, Altun M. Coupling cellular drug-target engagement to downstream pharmacology with CeTEAM. Nat Commun. 2024 Dec 06; 15(1):10347.
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Dimitriou F, Orloff MM, Koch Hein EC, Cheng PF, Hughes IF, Simeone E, Montazeri K, Grover P, Mehmi I, Gerard CL, Gaudy-Marqueste C, Grob JJ, Michielin O, Hamid O, Long GV, Sullivan R, Kapiteijn E, Johnson DB, Ascierto PA, Joshua AM, Carvajal RD, Butler MO, Hassel JC, Dummer R. Treatment sequence with tebentafusp and immune checkpoint inhibitors in patients with metastatic uveal melanoma and metastatic GNA11/GNAQ mutant melanocytic tumors. Eur J Cancer. 2025 Jan; 214:115161.
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Mazzotti A, Artioli E, Brizola E, Moroni A, Tremosini M, Di Cecco A, Gallone S, Faldini C, Sangiorgi L, Gnoli M. Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report. Genes (Basel). 2024 Nov 20; 15(11).
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Garg A, Jansen S, Greenberg L, Zhang R, Lavine KJ, Greenberg MJ. Dilated cardiomyopathy-associated skeletal muscle actin (ACTA1) mutation R256H disrupts actin structure and function and causes cardiomyocyte hypocontractility. Proc Natl Acad Sci U S A. 2024 Nov 12; 121(46):e2405020121.
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Esmaeilzadeh E, Biglari S, Mosallaei M, Khorshid HRK, Vahidnezhad H, Tabatabaiefar MA. A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review. Mol Genet Genomic Med. 2024 Nov; 12(11):e70031.
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Maharjan S, Gamper H, Yamaki Y, Christian T, Henley RY, Li NS, Suzuki T, Suzuki T, Piccirilli JA, Wanunu M, Seifert E, Wallace DC, Hou YM. Post-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology. Nat Commun. 2024 Oct 18; 15(1):9008.
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Francis JH, Silverman RF, Canestraro J, Bossert D, Della Rocca D, Hatzoglou V, Abramson DH, Diamond EL. Histiocytosis of the orbit and its association with KRAS mutations. Blood Adv. 2024 10 08; 8(19):5086-5090.
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Karliner J, Liu Y, Merry DE. Mutant androgen receptor induces neurite loss and senescence independently of ARE binding in a neuronal model of SBMA. Proc Natl Acad Sci U S A. 2024 Jul 16; 121(29):e2321408121.
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Chua V, Lopez-Anton M, Baqai U, Purwin TJ, Haj JI, Waltrich FJ, Trachtenberg I, Luo K, Tudi R, Jeon A, Han A, Chervoneva I, Davies MA, Aguirre-Ghiso JA, Sato T, Aplin AE. Slow proliferation of BAP1-deficient uveal melanoma cells is associated with reduced S6 signaling and resistance to nutrient stress. Sci Signal. 2024 Jun 11; 17(840):eadn8376.