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A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity.
Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C. Hunt R, et al. Among authors: komar a. Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734. Int J Mol Sci. 2019. PMID: 31731663 Free PMC article.
Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.
Edwards NC, Hing ZA, Perry A, Blaisdell A, Kopelman DB, Fathke R, Plum W, Newell J, Allen CE, S G, Shapiro A, Okunji C, Kosti I, Shomron N, Grigoryan V, Przytycka TM, Sauna ZE, Salari R, Mandel-Gutfreund Y, Komar AA, Kimchi-Sarfaty C. Edwards NC, et al. Among authors: komar aa. PLoS One. 2012;7(6):e38864. doi: 10.1371/journal.pone.0038864. Epub 2012 Jun 29. PLoS One. 2012. PMID: 22768050 Free PMC article.
A gene-specific method for predicting hemophilia-causing point mutations.
Hamasaki-Katagiri N, Salari R, Wu A, Qi Y, Schiller T, Filiberto AC, Schisterman EF, Komar AA, Przytycka TM, Kimchi-Sarfaty C. Hamasaki-Katagiri N, et al. Among authors: komar aa. J Mol Biol. 2013 Nov 1;425(21):4023-33. doi: 10.1016/j.jmb.2013.07.037. Epub 2013 Aug 3. J Mol Biol. 2013. PMID: 23920358 Free PMC article.
Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.
Simhadri VL, Hamasaki-Katagiri N, Lin BC, Hunt R, Jha S, Tseng SC, Wu A, Bentley AA, Zichel R, Lu Q, Zhu L, Freedberg DI, Monroe DM, Sauna ZE, Peters R, Komar AA, Kimchi-Sarfaty C. Simhadri VL, et al. Among authors: komar aa. J Med Genet. 2017 May;54(5):338-345. doi: 10.1136/jmedgenet-2016-104072. Epub 2016 Dec 22. J Med Genet. 2017. PMID: 28007939 Free PMC article.
367 results