Below are the most recent publications written about "Mutation" by people in Profiles.
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Ahmed M, Fischer S, Robert KL, Lange KI, Stuck MW, Best S, Johnson CA, Pazour GJ, Blacque OE, Nandadasa S. Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis. Nat Commun. 2025 May 28; 16(1):4946.
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Hinostroza F, Albornoz-Mu?oz S, Vergara S, Urra G, Araya-Dur?n I, Fissore RA, Gonz?lez-Nilo FD, Bustos D, Carvacho I. Structural Implications of H233L and H398P Mutations in Phospholipase C?: A Full-Atom Molecular Dynamics Study on Infertility-Associated Dysfunctions. Int J Mol Sci. 2025 May 14; 26(10).
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Mohan DR, Paes T, Buelvas Mebarak J, Meredith DM, Soares B, Vaz V, Carroll RS, Kaiser UB, Smith TR, Bi WL, Lerario AM, Abreu AP. Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes. Eur J Endocrinol. 2025 Apr 30; 192(5):590-602.
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Aydin AO, de Lichtenberg C, Liang F, Forsman J, Gra?a AT, Chernev P, Zhu S, Mateus A, Magnuson A, Cheah MH, Schr?der WP, Ho F, Lindblad P, Debus RJ, Mamedov F, Messinger J. Probing substrate water access through the O1 channel of Photosystem II by single site mutations and membrane inlet mass spectrometry. Photosynth Res. 2025 Apr 22; 163(3):28.
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Cahill S, Humphries F. Inflammasomopathies: mechanisms and disease signatures. Trends Immunol. 2025 May; 46(5):372-385.
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Yin X, Wang R, Thackeray A, Baehrecke EH, Alkema MJ. VPS13D mutations affect mitochondrial homeostasis and locomotion in Caenorhabditis elegans. G3 (Bethesda). 2025 Apr 17; 15(4).
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Khouri MR, Wang B, Pearson LK, Gillis-Smith AJ, Suzuki S, Hutchinson LM, Bindal P, Ramanathan M, Gerber JM, Cerny J, Patel SA. Characteristics and clinical outcomes of patients with myeloid malignancies and cohesin mutations. Cancer. 2025 Apr 15; 131(8):e35846.
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Zvornicanin SN, Shaqra AM, Flynn J, Carias Martinez H, Jia W, Moquin S, Dovala D, Bolon DN, Kurt Yilmaz N, Schiffer CA. Molecular mechanisms of drug resistance and compensation in SARS-CoV-2 main protease: the interplay between E166 and L50. mBio. 2025 May 14; 16(5):e0406824.
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Durham ND, Jain A, Howard A, Luban J, Munro JB. Molecular basis for the increased fusion activity of the Ebola virus glycoprotein epidemic variant A82V: Insights from simulations and experiments. Cell Rep. 2025 Apr 22; 44(4):115521.
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Zhu X, Meng X, Mochel MC, Wiliams EA, Dresser K, Tomaszewicz K, Hutchinson L, Bledsoe JR. CYLD-mutated anal squamous cell carcinoma: An uncommon entity associated with cylindroma-like morphology and adverse clinical features. Hum Pathol. 2025 Mar; 157:105765.