Below are the most recent publications written about "Gain of Function Mutation" by people in Profiles.
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Gao KM, Chiang K, Jiang Z, Korkmaz FT, Janardhan HP, Trivedi CM, Quinton LJ, Gingras S, Fitzgerald KA, Marshak-Rothstein A. Endothelial cell expression of a STING gain-of-function mutation initiates pulmonary lymphocytic infiltration. Cell Rep. 2024 04 23; 43(4):114114.
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Notarangelo G, Spinelli JB, Perez EM, Baker GJ, Kurmi K, Elia I, Stopka SA, Baquer G, Lin JR, Golby AJ, Joshi S, Baron HF, Drijvers JM, Georgiev P, Ringel AE, Zaganjor E, McBrayer SK, Sorger PK, Sharpe AH, Wucherpfennig KW, Santagata S, Agar NYR, Suv? ML, Haigis MC. Oncometabolite d-2HG alters T cell metabolism to impair CD8+ T cell function. Science. 2022 09 30; 377(6614):1519-1529.
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Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N. Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. Angiogenesis. 2023 02; 26(1):37-52.
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Gao KM, Motwani M, Tedder T, Marshak-Rothstein A, Fitzgerald KA. Radioresistant cells initiate lymphocyte-dependent lung inflammation and IFN?-dependent mortality in STING gain-of-function mice. Proc Natl Acad Sci U S A. 2022 06 21; 119(25):e2202327119.
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Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep. 2022 04 05; 39(1):110598.
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Pellerin A, Yasuda K, Cohen-Bucay A, Sandra V, Shukla P, Jr BKH, N?ndel K, Viglianti GA, Xie Y, Klein U, Tan Y, Bonegio RG, Rifkin IR. Monoallelic IRF5 deficiency in B cells prevents murine lupus. JCI Insight. 2021 08 09; 6(15).
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Janardhan HP, Meng X, Dresser K, Hutchinson L, Trivedi CM. KRAS or BRAF mutations cause hepatic vascular cavernomas treatable with MAP2K-MAPK1 inhibition. J Exp Med. 2020 07 06; 217(7).
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Pulsifer AR, Vashishta A, Reeves SA, Wolfe JK, Palace SG, Proulx MK, Goguen J, Bodduluri SR, Haribabu B, Uriarte SM, Lawrenz MB. Redundant and Cooperative Roles for Yersinia pestis Yop Effectors in the Inhibition of Human Neutrophil Exocytic Responses Revealed by Gain-of-Function Approach. Infect Immun. 2020 02 20; 88(3).
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Huang YC, Pirri JK, Rayes D, Gao S, Mulcahy B, Grant J, Saheki Y, Francis MM, Zhen M, Alkema MJ. Gain-of-function mutations in the UNC-2/CaV2a channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans. Elife. 2019 08 05; 8.
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Motwani M, Pawaria S, Bernier J, Moses S, Henry K, Fang T, Burkly L, Marshak-Rothstein A, Fitzgerald KA. Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models. Proc Natl Acad Sci U S A. 2019 04 16; 116(16):7941-7950.