Below are the most recent publications written about "Mutation" by people in Profiles.
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Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Gr?nborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, ?stergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Hum Mol Genet. 2023 07 20; 32(15):2441-2454.
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Shibata T, Sato R, Taoka M, Saitoh SI, Komine M, Yamaguchi K, Goyama S, Motoi Y, Kitaura J, Izawa K, Yamauchi Y, Tsukamoto Y, Ichinohe T, Fujita E, Hiranuma R, Fukui R, Furukawa Y, Kitamura T, Takai T, Tojo A, Ohtsuki M, Ohto U, Shimizu T, Ozawa M, Yoshida N, Isobe T, Latz E, Mukai K, Taguchi T, Hemmi H, Akira S, Miyake K. TLR7/8 stress response drives histiocytosis in SLC29A3 disorders. J Exp Med. 2023 09 04; 220(9).
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Magnotto JC, Mancini A, Bird K, Montenegro L, T?t?nc?ler F, Pereira SA, Simas V, Garcia L, Roberts SA, Macedo D, Magnuson M, Gagliardi P, Mauras N, Witchel SF, Carroll RS, Latronico AC, Kaiser UB, Abreu AP. Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination. J Clin Endocrinol Metab. 2023 Jun 16; 108(7):1646-1656.
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Patel SA. Precision and strategic targeting of novel mutation-specific vulnerabilities in acute myeloid leukemia: the semi-centennial of 7?+?3. Leuk Lymphoma. 2023 Sep; 64(9):1503-1513.
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Schrader CE, Williams T, Pechhold K, Linehan EK, Tsuchimoto D, Nakabeppu Y. APE2 Promotes AID-Dependent Somatic Hypermutation in Primary B Cell Cultures That Is Suppressed by APE1. J Immunol. 2023 06 01; 210(11):1804-1814.
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Marang C, Scott B, Chambers J, Gunther LK, Yengo CM, Debold EP. A mutation in switch I alters the load-dependent kinetics of myosin Va. Nat Commun. 2023 05 30; 14(1):3137.
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Yang H, Brown RH, Wang D, Strauss KA, Gao G. Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery. JCI Insight. 2023 05 08; 8(9).
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Bahiru MS, Bittman EL. Adult Neurogenesis Is Altered by Circadian Phase Shifts and the Duper Mutation in Female Syrian Hamsters. eNeuro. 2023 03; 10(3).
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Maclachlan KH, Bagratuni T, Kastritis E, Ziccheddu B, Lu S, Yellapantula V, Famulare C, Argyropoulos K, Derkach A, Papaemmanuil E, Dogan A, Lesokhin A, Usmani SZ, Landgren CO, Palomba LM, Maura F, Dimopoulos MA. Waldenstr?m macroglobulinemia whole genome reveals prolonged germinal center activity and late copy number aberrations. Blood Adv. 2023 03 28; 7(6):971-981.
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Ramia de Cap M, Wu LP, Hirt C, Pihan GA, Patel SS, Tam W, Bueso-Ramos CE, Kanagal-Shamanna R, Raess PW, Siddon A, Narayanan D, Morgan EA, Pinkus GS, Mason EF, Hsi ED, Rogers HJ, Toth L, Foucar K, Hurwitz SN, Bagg A, Rets A, George TI, Orazi A, Arber DA, Hasserjian RP, Weinberg OK. Myeloid sarcoma with NPM1 mutation may be clinically and genetically distinct from AML with NPM1 mutation: a study from the Bone Marrow Pathology Group. Leuk Lymphoma. 2023 05; 64(5):972-980.