| 1 | FPDAML, RUNX1
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| Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy (FPD/AML).
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| Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, Jackson SC, Poon MC, Sinclair GD, Leber B, Johnson PR, Macheta A, Yin JA, Barnett MJ, Lister TA, Fitzgibbon J.
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| Blood lood. 2008 Aug 21. [Epub ahead of print]
2008
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| 2 | CLIC6, DEL21Q22, DSCR, FPDAML, KCNE1, RUNX1
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| Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.
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| Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE.
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| Blood 112(4):1042-7. Epub 2008 May 16. 2008
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| 3 | AML1, FPDAML, RUNX1
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| Integrative analysis of RUNX1 downstream pathways and target genes.
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| 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.
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| BMC Genomics 9:363. 2008
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| 4 | FPDAML, RUNX1
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| A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
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| Kirito K, Sakoe K, Shinoda D, Takiyama Y, Kaushansky K, Komatsu N.
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| Haematologica 93(1):155-6.PMID: 18166807 2008
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| 5 | RUNX1, RUNX2, CCD, FPDAML
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| Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.
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| Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, Newman M, Roudaia L, Speck CL, Gu TL, Griffey SM, Bushweller JH, Speck NA.
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| EMBO J 26(4):1163-75. Epub 2007 Feb 8. 2007
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| 6 | AML1, FPDAML, RUNX1
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| Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia.
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| Ganly P, Walker LC, Morris CM.
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| Leuk Lymphoma 45(1):1-10. Review. 2004
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| 7 | FPDAML
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| 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.
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| 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.
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| Blood 99(4):1364-72. 2002
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| 8 | RUNX1, FPDAML
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| A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.
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| Walker LC, Stevens J, Campbell H, Corbett R, Spearing R, Heaton D, Macdonald DH, Morris CM, Ganly P.
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| Br J Haematol 117(4):878-81. 2002
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| 9 | RUNX1, FPDAML
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| Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
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| Song WJ, et al.
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| Nat Genet 23(2):166-75 1999
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| 10 | AMLCR2, FPDAML
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| Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.
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| Horwitz M, Benson KF, Li FQ, Wolff J, Leppert MF, Hobson L, Mangelsdorf M, Yu S, Hewett D, Richards RI, Raskind WH.
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| Am J Hum Genet 61(4):873-81. 1997
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| 11 | FPDAML
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| Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.
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| Ho CY, et al.
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| Blood 87 : 5218-5224. 1996
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