Below are the most recent publications written about "Amino Acid Substitution" by people in Profiles.
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Sterrett MC, Enyenihi L, Leung SW, Hess L, Strassler SE, Farchi D, Lee RS, Withers ES, Kremsky I, Baker RE, Basrai MA, van Hoof A, Fasken MB, Corbett AH. A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. RNA. 2021 09; 27(9):1046-1067.
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Schiller ZA, Rudolph MJ, Toomey JR, Ejemel M, LaRochelle A, Davis SA, Lambert HS, Kern A, Tardo AC, Souders CA, Peterson E, Cannon RD, Ganesa C, Fazio F, Mantis NJ, Cavacini LA, Sullivan-Bolyai J, Hu LT, Embers ME, Klempner MS, Wang Y. Blocking Borrelia burgdorferi transmission from infected ticks to nonhuman primates with a human monoclonal antibody. J Clin Invest. 2021 06 01; 131(11).
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Volz E, Hill V, McCrone JT, Price A, Jorgensen D, O'Toole ?, Southgate J, Johnson R, Jackson B, Nascimento FF, Rey SM, Nicholls SM, Colquhoun RM, da Silva Filipe A, Shepherd J, Pascall DJ, Shah R, Jesudason N, Li K, Jarrett R, Pacchiarini N, Bull M, Geidelberg L, Siveroni I, Goodfellow I, Loman NJ, Pybus OG, Robertson DL, Thomson EC, Rambaut A, Connor TR. Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity. Cell. 2021 01 07; 184(1):64-75.e11.
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Ilaslan E, Markosyan R, Sproll P, Stevenson BJ, Sajek M, Sajek MP, Hayrapetyan H, Sarkisian T, Livshits L, Nef S, Jaruzelska J, Kusz-Zamelczyk K. The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome. Int J Mol Sci. 2020 Nov 09; 21(21).
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Konstantinidis K, Bezzerides VJ, Lai L, Isbell HM, Wei AC, Wu Y, Viswanathan MC, Blum ID, Granger JM, Heims-Waldron D, Zhang D, Luczak ED, Murphy KR, Lu F, Gratz DH, Manta B, Wang Q, Wang Q, Kolodkin AL, Gladyshev VN, Hund TJ, Pu WT, Wu MN, Cammarato A, Bianchet MA, Shea MA, Levine RL, Anderson ME. MICAL1 constrains cardiac stress responses and protects against disease by oxidizing CaMKII. J Clin Invest. 2020 09 01; 130(9):4663-4678.
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Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cort?s FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hern?ndez-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.
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Henes M, Kosovrasti K, Lockbaum GJ, Leidner F, Nachum GS, Nalivaika EA, Bolon DNA, Kurt Yilmaz N, Schiffer CA, Whitfield TW. Molecular Determinants of Epistasis in HIV-1 Protease: Elucidating the Interdependence of L89V and L90M Mutations in Resistance. Biochemistry. 2019 09 03; 58(35):3711-3726.
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Dowling JK, Tate MD, Rosli S, Bourke NM, Bitto N, Lauterbach MA, Cheung S, Ve T, Kobe B, Golenbock D, Mansell A. The Single Nucleotide Polymorphism Mal-D96N Mice Provide New Insights into Functionality of Mal in TLR Immune Responses. J Immunol. 2019 04 15; 202(8):2384-2396.
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Shen K, Valenstein ML, Gu X, Sabatini DM. Arg-78 of Nprl2 catalyzes GATOR1-stimulated GTP hydrolysis by the Rag GTPases. J Biol Chem. 2019 02 22; 294(8):2970-2975.
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MacPherson DJ, Mills CL, Ondrechen MJ, Hardy JA. Tri-arginine exosite patch of caspase-6 recruits substrates for hydrolysis. J Biol Chem. 2019 01 04; 294(1):71-88.