Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Efe G, Dunbar KJ, Sugiura K, Cunningham K, Carcamo S, Karaiskos S, Tang Q, Cruz-Acu?a R, Resnick-Silverman L, Peura J, Lu C, Hasson D, Klein-Szanto AJ, Taylor AM, Manfredi JJ, Prives C, Rustgi AK. p53 Gain-of-Function Mutation Induces Metastasis via BRD4-Dependent CSF-1 Expression. Cancer Discov. 2023 12 12; 13(12):2632-2651.
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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 10; 188(10):3084-3088.
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Ye D, Zhou W, Hamrick SK, Tester DJ, Kim CSJ, Barajas-Martinez H, Hu D, Giudicessi JR, Antzelevitch C, Ackerman MJ. Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3-Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes. Circ Genom Precis Med. 2022 Oct; 15(5):e003238.
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Paradis JS, Acosta M, Saddawi-Konefka R, Kishore A, Gomes F, Arang N, Tiago M, Coma S, Lubrano S, Wu X, Ford K, Day CP, Merlino G, Mali P, Pachter JA, Sato T, Aplin AE, Gutkind JS. Synthetic Lethal Screens Reveal Cotargeting FAK and MEK as a Multimodal Precision Therapy for GNAQ-Driven Uveal Melanoma. Clin Cancer Res. 2021 06 01; 27(11):3190-3200.
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Oba T, Saito T, Asada A, Shimizu S, Iijima KM, Ando K. Microtubule affinity-regulating kinase 4 with an Alzheimer's disease-related mutation promotes tau accumulation and exacerbates neurodegeneration. J Biol Chem. 2020 12 11; 295(50):17138-17147.
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Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome. Am J Med Genet A. 2020 02; 182(2):328-337.
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Xiao G, Lundine D, Annor GK, Canar J, Ellison V, Polotskaia A, Donabedian PL, Reiner T, Khramtsova GF, Olopade OI, Mazo A, Bargonetti J. Gain-of-Function Mutant p53 R273H Interacts with Replicating DNA and PARP1 in Breast Cancer. Cancer Res. 2020 02 01; 80(3):394-405.
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Yang H, Kurtenbach S, Guo Y, Lohse I, Durante MA, Li J, Li Z, Al-Ali H, Li L, Chen Z, Field MG, Zhang P, Chen S, Yamamoto S, Li Z, Zhou Y, Nimer SD, Harbour JW, Wahlestedt C, Xu M, Yang FC. Gain of function of ASXL1 truncating protein in the pathogenesis of myeloid malignancies. Blood. 2018 01 18; 131(3):328-341.