Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Xiong S, Chachad D, Zhang Y, Gencel-Augusto J, Sirito M, Pant V, Yang P, Sun C, Chau G, Qi Y, Su X, Whitley EM, El-Naggar AK, Lozano G. Differential Gain-of-Function Activity of Three p53 Hotspot Mutants In Vivo. Cancer Res. 2022 May 16; 82(10):1926-1936.
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Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CA, Gónzalez-Murillo Á, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 May; 605(7909):349-356.
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Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 02 17; 139(7):1039-1051.
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Han W, Yuan H, Allen JP, Kim S, Shaulsky GH, Perszyk RE, Traynelis SF, Myers SJ. Opportunities for Precision Treatment of GRIN2A and GRIN2B Gain-of-Function Variants in Triheteromeric N-Methyl-D-Aspartate Receptors. J Pharmacol Exp Ther. 2022 04; 381(1):54-66.
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Scott O, Sharfe N, Dadi H, Vong L, Garkaby J, Abrego Fuentes L, Willett Pachul J, Nelles S, Nahum A, Roifman CM. Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant. Front Immunol. 2022; 13:801832.
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Scott O, Dadi H, Vong L, Pasternak Y, Garkaby J, Willett Pachul J, Mandola AB, Brager R, Hostoffer R, Nahum A, Roifman CM. DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients. Pediatr Allergy Immunol. 2022 01; 33(1):e13694.
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Kumar M, Molkentine D, Molkentine J, Bridges K, Xie T, Yang L, Hefner A, Gao M, Bahri R, Dhawan A, Frederick MJ, Seth S, Abdelhakiem M, Beadle BM, Johnson F, Wang J, Shen L, Heffernan T, Sheth A, Ferris RL, Myers JN, Pickering CR, Skinner HD. Inhibition of histone acetyltransferase function radiosensitizes CREBBP/EP300 mutants via repression of homologous recombination, potentially targeting a gain of function. Nat Commun. 2021 11 03; 12(1):6340.
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Naxerova K, Di Stefano B, Makofske JL, Watson EV, de Kort MA, Martin TD, Dezfulian M, Ricken D, Wooten EC, Kuroda MI, Hochedlinger K, Elledge SJ. Integrated loss- and gain-of-function screens define a core network governing human embryonic stem cell behavior. Genes Dev. 2021 11 01; 35(21-22):1527-1547.
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Korenfeld D, Roussak K, Dinkel S, Vogel TP, Pollack H, Levy J, Leiding JW, Milner J, Cooper M, Klechevsky E. STAT3 Gain-of-Function Mutations Underlie Deficiency in Human Nonclassical CD16+ Monocytes and CD141+ Dendritic Cells. J Immunol. 2021 11 15; 207(10):2423-2432.
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Heltemes-Harris LM, Hubbard GK, LaRue RS, Munro SA, Yang R, Henzler CM, Starr TK, Sarver AL, Kornblau SM, Farrar MA. Identification of mutations that cooperate with defects in B cell transcription factors to initiate leukemia. Oncogene. 2021 10; 40(43):6166-6179.