Below are the most recent publications written about "Amino Acid Substitution" by people in Profiles.
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Rayi A, Alnahhas I, Ong S, Giglio P, Puduvalli VK. Targeted Therapy for BRAF Mutant Brain Tumors. Curr Treat Options Oncol. 2021 10 06; 22(11):105.
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Meric G, Naik S, Hunter AK, Robinson AS, Roberts CJ. Challenges for design of aggregation-resistant variants of granulocyte colony-stimulating factor. Biophys Chem. 2021 Oct; 277:106630.
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Gnanapradeepan K, Leu JI, Basu S, Barnoud T, Good M, Lee JV, Quinn WJ, Kung CP, Ahima R, Baur JA, Wellen KE, Liu Q, Schug ZT, George DL, Murphy ME. Increased mTOR activity and metabolic efficiency in mouse and human cells containing the African-centric tumor-predisposing p53 variant Pro47Ser. Elife. 2020 11 10; 9.
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Benavides N, Spessott WA, Sanmillan ML, Vargas M, Livingston MS, Erickson N, Pozos TC, McCormick ME, Scharrig E, Messinger YH, Giraudo CG. STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis. Front Immunol. 2020; 11:545414.
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Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. J Med Genet. 2021 10; 58(10):712-716.
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Rehman AU, Peter VG, Quinodoz M, Dawood M, Rivolta C. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Clin Dysmorphol. 2020 Apr; 29(2):86-89.
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Vernet E, Pedersen M?, Th?gersen H, Shaw AC. Engineering Xaa-Pro dipeptidyl aminopeptidase for specific cleavage of glucagon and glucagon-like peptide 1 from fusion proteins. Protein Expr Purif. 2020 06; 170:105590.
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Dagnewu KY, Ayele A, Liu L, Pramanik R, Onoufriadis A, Abebe E, McGrath JA. Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH. Int J Dermatol. 2020 Mar; 59(3):e55-e57.
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Kobayashi M, Inaguma S, Raffeld M, Kato H, Suzuki S, Wakasugi T, Mitsui A, Kuwabara Y, Lasota J, Ikeda H, Miettinen M, Takahashi S. Epithelioid variant of gastrointestinal stromal tumor harboring PDGFRA mutation and MLH1 gene alteration: A case report. Pathol Int. 2019 Sep; 69(9):541-546.
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Levy ER, Yip WK, Super M, Ferdinands JM, Mistry AJ, Newhams MM, Zhang Y, Su HC, McLaughlin GE, Sapru A, Loftis LL, Weiss SL, Hall MW, Cvijanovich N, Schwarz A, Tarquinio KM, Mourani PM, Randolph AG. Evaluation of Mannose Binding Lectin Gene Variants in Pediatric Influenza Virus-Related Critical Illness. Front Immunol. 2019; 10:1005.