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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D, Douglas AGL. Blakes AJM, et al. Among authors: chase a. Eur J Hum Genet. 2021 Apr;29(4):593-603. doi: 10.1038/s41431-020-00766-w. Epub 2020 Nov 22. Eur J Hum Genet. 2021. PMID: 33223528 Free PMC article.
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
Galatà G, García-Montero AC, Kristensen T, Dawoud AAZ, Muñoz-González JI, Meggendorfer M, Guglielmelli P, Hoade Y, Alvarez-Twose I, Gieger C, Strauch K, Ferrucci L, Tanaka T, Bandinelli S, Schnurr TM, Haferlach T, Broesby-Olsen S, Vestergaard H, Møller MB, Bindslev-Jensen C, Vannucchi AM, Orfao A, Radia D, Reiter A, Chase AJ, Cross NCP, Tapper WJ. Galatà G, et al. Among authors: chase aj. Am J Hum Genet. 2021 Feb 4;108(2):284-294. doi: 10.1016/j.ajhg.2020.12.007. Epub 2021 Jan 8. Am J Hum Genet. 2021. PMID: 33421400 Free PMC article.
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.
Ernst T, Chase AJ, Score J, Hidalgo-Curtis CE, Bryant C, Jones AV, Waghorn K, Zoi K, Ross FM, Reiter A, Hochhaus A, Drexler HG, Duncombe A, Cervantes F, Oscier D, Boultwood J, Grand FH, Cross NC. Ernst T, et al. Among authors: chase aj. Nat Genet. 2010 Aug;42(8):722-6. doi: 10.1038/ng.621. Epub 2010 Jul 4. Nat Genet. 2010. PMID: 20601953
389 results