Below are the most recent publications written about "Amino Acid Substitution" by people in Profiles.
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Huttinger ZM, Haynes LM, Yee A, Kretz CA, Holding ML, Siemieniak DR, Lawrence DA, Ginsburg D. Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape. Sci Rep. 2021 09 22; 11(1):18827.
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Puray-Chavez M, LaPak KM, Schrank TP, Elliott JL, Bhatt DP, Agajanian MJ, Jasuja R, Lawson DQ, Davis K, Rothlauf PW, Liu Z, Jo H, Lee N, Tenneti K, Eschbach JE, Shema Mugisha C, Cousins EM, Cloer EW, Vuong HR, VanBlargan LA, Bailey AL, Gilchuk P, Crowe JE, Diamond MS, Hayes DN, Whelan SPJ, Horani A, Brody SL, Goldfarb D, Major MB, Kutluay SB. Systematic analysis of SARS-CoV-2 infection of an ACE2-negative human airway cell. Cell Rep. 2021 07 13; 36(2):109364.
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Gulati N, Allen CE. Langerhans cell histiocytosis: Version 2021. Hematol Oncol. 2021 Jun; 39 Suppl 1:15-23.
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Yang DS, Saeedi A, Davtyan A, Fathi M, Sherman MB, Safari MS, Klindziuk A, Barton MC, Varadarajan N, Kolomeisky AB, Vekilov PG. Mesoscopic protein-rich clusters host the nucleation of mutant p53 amyloid fibrils. Proc Natl Acad Sci U S A. 2021 03 09; 118(10).
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Kisalu NK, Pereira LD, Ernste K, Flores-Garcia Y, Idris AH, Asokan M, Dillon M, MacDonald S, Shi W, Chen X, Pegu A, Schön A, Zavala F, Balazs AB, Francica JR, Seder RA. Enhancing durability of CIS43 monoclonal antibody by Fc mutation or AAV delivery for malaria prevention. JCI Insight. 2021 02 08; 6(3).
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Markunas AM, Manivannan PKR, Ezekian JE, Agarwal A, Eisner W, Alsina K, Allen HD, Wray GA, Kim JJ, Wehrens XHT, Landstrom AP. TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. Am J Med Genet A. 2021 03; 185(3):923-929.
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Long SW, Olsen RJ, Christensen PA, Bernard DW, Davis JJ, Shukla M, Nguyen M, Saavedra MO, Yerramilli P, Pruitt L, Subedi S, Kuo HC, Hendrickson H, Eskandari G, Nguyen HAT, Long JH, Kumaraswami M, Goike J, Boutz D, Gollihar J, McLellan JS, Chou CW, Javanmardi K, Finkelstein IJ, Musser JM. Molecular Architecture of Early Dissemination and Massive Second Wave of the SARS-CoV-2 Virus in a Major Metropolitan Area. mBio. 2020 10 30; 11(6).
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Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion. 2020 11; 55:8-13.
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Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng Y, Chung W, Sacher M, Ganapathi M. A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet. 2021 09; 58(9):592-601.
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Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.