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Items: 1 to 20 of 184

1.

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.

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.

Blood. 2008 Dec 1;112(12):4639-45. doi: 10.1182/blood-2008-05-156745. Epub 2008 Aug 21.

2.

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N, Dhedin N, André JM, Cornillet-Lefebvre P, Baruchel A, Mozziconacci MJ, Sobol H.

Blood. 2009 May 28;113(22):5583-7. doi: 10.1182/blood-2008-07-168260. Epub 2009 Apr 8.

3.

A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.

Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H.

Blood. 2001 Nov 1;98(9):2856-8.

4.

Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies.

Minelli A, Maserati E, Rossi G, Bernardo ME, De Stefano P, Cecchini MP, Valli R, Albano V, Pierani P, Leszl A, Sainati L, Lo Curto F, Danesino C, Locatelli F, Pasquali F.

Genes Chromosomes Cancer. 2004 Jul;40(3):165-71.

PMID:
15138996
5.

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.

Blood. 2002 Feb 15;99(4):1364-72.

6.

Familial myelodysplasia and acute myeloid leukaemia--a review.

Owen C, Barnett M, Fitzgibbon J.

Br J Haematol. 2008 Jan;140(2):123-32. doi: 10.1111/j.1365-2141.2007.06909.x. Review.

PMID:
18173751
7.

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R.

Orphanet J Rare Dis. 2016 Apr 26;11:49. doi: 10.1186/s13023-016-0432-0.

8.

Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia.

Bluteau D, Gilles L, Hilpert M, Antony-Debré I, James C, Debili N, Camara-Clayette V, Wagner-Ballon O, Cordette-Lagarde V, Robert T, Ripoche H, Gonin P, Swierczek S, Prchal J, Vainchenker W, Favier R, Raslova H.

Blood. 2011 Dec 8;118(24):6310-20. doi: 10.1182/blood-2010-12-325555. Epub 2011 Jul 1.

9.

Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia.

Harada H, Harada Y, Tanaka H, Kimura A, Inaba T.

Blood. 2003 Jan 15;101(2):673-80. Epub 2002 Sep 5.

10.

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation.

Heller PG, Glembotsky AC, Gandhi MJ, Cummings CL, Pirola CJ, Marta RF, Kornblihtt LI, Drachman JG, Molinas FC.

Blood. 2005 Jun 15;105(12):4664-70. Epub 2005 Mar 1.

11.

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.

Kirito K, Sakoe K, Shinoda D, Takiyama Y, Kaushansky K, Komatsu N.

Haematologica. 2008 Jan;93(1):155-6. doi: 10.3324/haematol.12050.

12.

T cell acute lymphoblastic leukemia arising from familial platelet disorder.

Nishimoto N, Imai Y, Ueda K, Nakagawa M, Shinohara A, Ichikawa M, Nannya Y, Kurokawa M.

Int J Hematol. 2010 Jul;92(1):194-7. doi: 10.1007/s12185-010-0612-y. Epub 2010 Jun 12.

PMID:
20549580
13.

CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML).

Shiba N, Hasegawa D, Park MJ, Murata C, Sato-Otsubo A, Ogawa C, Manabe A, Arakawa H, Ogawa S, Hayashi Y.

Blood. 2012 Mar 15;119(11):2612-4. doi: 10.1182/blood-2011-02-333435. Epub 2011 Dec 2.

14.

Molecular mechanisms that produce secondary MDS/AML by RUNX1/AML1 point mutations.

Harada Y, Harada H.

J Cell Biochem. 2011 Feb;112(2):425-32. doi: 10.1002/jcb.22974.

PMID:
21268063
15.

Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets.

Glembotsky AC, Bluteau D, Espasandin YR, Goette NP, Marta RF, Marin Oyarzun CP, Korin L, Lev PR, Laguens RP, Molinas FC, Raslova H, Heller PG.

J Thromb Haemost. 2014 May;12(5):761-72. doi: 10.1111/jth.12550.

16.

Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients.

Sakurai M, Kunimoto H, Watanabe N, Fukuchi Y, Yuasa S, Yamazaki S, Nishimura T, Sadahira K, Fukuda K, Okano H, Nakauchi H, Morita Y, Matsumura I, Kudo K, Ito E, Ebihara Y, Tsuji K, Harada Y, Harada H, Okamoto S, Nakajima H.

Leukemia. 2014 Dec;28(12):2344-54. doi: 10.1038/leu.2014.136. Epub 2014 Apr 15.

PMID:
24732596
17.

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Grégoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P.

Eur J Hum Genet. 2008 Aug;16(8):1014-8. doi: 10.1038/ejhg.2008.89. Epub 2008 May 14.

18.

Point mutations in the AML1/RUNX1 gene associated with myelodysplastic syndrome.

Harada H, Harada Y.

Crit Rev Eukaryot Gene Expr. 2005;15(3):183-96. Review.

PMID:
16390315
19.

Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia.

Toya T, Yoshimi A, Morioka T, Arai S, Ichikawa M, Usuki K, Kurokawa M.

Platelets. 2014;25(4):300-2. doi: 10.3109/09537104.2013.818636. Epub 2013 Aug 23.

PMID:
23971860
20.

Molecular pathways mediating MDS/AML with focus on AML1/RUNX1 point mutations.

Harada Y, Harada H.

J Cell Physiol. 2009 Jul;220(1):16-20. doi: 10.1002/jcp.21769. Review.

PMID:
19334039

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