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Page 1
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, Dubowsky A, Burdett J, Moore S, McKavanagh G, Henry D, Wells A, Mercorella B, Nicola M, Suttle J, Wilkins E, Li XC, Michaud J, Brautigan P, Cannon P, Altree M, Jaensch L, Fine M, Butcher C, D'Andrea RJ, Lewis ID, Hiwase DK, Papaemmanuil E, Horwitz MS, Natsoulis G, Rienhoff HY, Patton N, Mapp S, Susman R, Morgan S, Cooney J, Currie M, Popat U, Bochtler T, Izraeli S, Bradstock K, Godley LA, Krämer A, Fröhling S, Wei AH, Forsyth C, Mar Fan H, Poplawski NK, Hahn CN, Scott HS. Brown AL, et al. Among authors: horwitz ms. Blood Adv. 2020 Mar 24;4(6):1131-1144. doi: 10.1182/bloodadvances.2019000901. Blood Adv. 2020. PMID: 32208489 Free PMC article.
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: horwitz ms. Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6. Blood. 2012. PMID: 22147895 Free PMC article.
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS. Hahn CN, et al. Among authors: horwitz ms. Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913. Nat Genet. 2011. PMID: 21892162 Free PMC article.
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS. Michaud J, et al. Blood. 2002 Feb 15;99(4):1364-72. doi: 10.1182/blood.v99.4.1364. Blood. 2002. PMID: 11830488 Free article.
Integrative analysis of RUNX1 downstream pathways and target genes.
Michaud J, Simpson KM, Escher R, Buchet-Poyau K, Beissbarth T, Carmichael C, Ritchie ME, Schütz F, Cannon P, Liu M, Shen X, Ito Y, Raskind WH, Horwitz MS, Osato M, Turner DR, Speed TP, Kavallaris M, Smyth GK, Scott HS. Michaud J, et al. Among authors: horwitz ms. BMC Genomics. 2008 Jul 31;9:363. doi: 10.1186/1471-2164-9-363. BMC Genomics. 2008. PMID: 18671852 Free PMC article.
Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation.
Krutein MC, Hart MR, Anderson DJ, Jeffery J, Kotini AG, Dai J, Chien S, DelPriore M, Borst S, Maguire JA, French DL, Gadue P, Papapetrou EP, Keel SB, Becker PS, Horwitz MS. Krutein MC, et al. Among authors: horwitz ms. Blood Adv. 2021 Feb 9;5(3):687-699. doi: 10.1182/bloodadvances.2020002709. Blood Adv. 2021. PMID: 33560381 Free PMC article.
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K. Shah S, et al. Among authors: horwitz ms. Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8. Nat Genet. 2013. PMID: 24013638 Free PMC article.
Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes.
Carmichael CL, Wilkins EJ, Bengtsson H, Horwitz MS, Speed TP, Vincent PC, Young G, Hahn CN, Escher R, Scott HS. Carmichael CL, et al. Among authors: horwitz ms. Br J Haematol. 2010 Aug;150(3):382-5. doi: 10.1111/j.1365-2141.2010.08204.x. Epub 2010 Apr 29. Br J Haematol. 2010. PMID: 20456351 Free article. No abstract available.
291 results