Below are the most recent publications written about "Amino Acid Substitution" by people in Profiles.
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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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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.
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Zhang Y, Zmasek C, Sun G, Larsen CN, Scheuermann RH. Hepatitis C Virus Database and Bioinformatics Analysis Tools in the Virus Pathogen Resource (ViPR). Methods Mol Biol. 2019; 1911:47-69.
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Ferreira CR, Xia ZJ, Cl?ment A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-S?nchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsj? A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 10 04; 103(4):553-567.
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Zhao B, Mei Y, Cao L, Zhang J, Sumagin R, Yang J, Gao J, Schipma MJ, Wang Y, Thorsheim C, Zhao L, Stalker T, Stein B, Wen QJ, Crispino JD, Abrams CS, Ji P. Loss of pleckstrin-2 reverts lethality and vascular occlusions in JAK2V617F-positive myeloproliferative neoplasms. J Clin Invest. 2018 01 02; 128(1):125-140.
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Jain K, Warmack RA, Debler EW, Hadjikyriacou A, Stavropoulos P, Clarke SG. Protein Arginine Methyltransferase Product Specificity Is Mediated by Distinct Active-site Architectures. J Biol Chem. 2016 08 26; 291(35):18299-308.
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Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Am J Med Genet A. 2016 10; 170(10):2559-69.