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Items: 1 to 20 of 121

1.

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AY, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers EF, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N.

Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. No abstract available.

PMID:
19946261
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.

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.

4.

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.

5.

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.

6.

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.

7.

Dysmegakaryopoiesis, a clue for an early diagnosis of familial platelet disorder with propensity to acute myeloid leukemia in case of unexplained inherited thrombocytopenia associated with normal-sized platelets.

Latger-Cannard V, Philippe C, Jonveaux P, Lecompte T, Favier R.

J Pediatr Hematol Oncol. 2011 Oct;33(7):e264-6. doi: 10.1097/MPH.0b013e31821754ac.

PMID:
21900832
8.

Insights into familial platelet disorder with propensity to myeloid malignancy (FPD/AML).

Owen C.

Leuk Res. 2010 Feb;34(2):141-2. doi: 10.1016/j.leukres.2009.07.037. Epub 2009 Aug 19. Review. No abstract available.

PMID:
19695705
9.

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.

10.

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
11.

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
12.

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.

13.

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.

14.

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

Antony-Debré I, Bluteau D, Itzykson R, Baccini V, Renneville A, Boehlen F, Morabito M, Droin N, Deswarte C, Chang Y, Leverger G, Solary E, Vainchenker W, Favier R, Raslova H.

Blood. 2012 Sep 27;120(13):2719-22. Epub 2012 Jun 7.

15.

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.

Connelly JP, Kwon EM, Gao Y, Trivedi NS, Elkahloun AG, Horwitz MS, Cheng L, Liu PP.

Blood. 2014 Sep 18;124(12):1926-30.

16.

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.

17.

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression.

Bluteau D, Glembotsky AC, Raimbault A, Balayn N, Gilles L, Rameau P, Nurden P, Alessi MC, Debili N, Vainchenker W, Heller PG, Favier R, Raslova H.

Blood. 2012 Sep 27;120(13):2708-18. Epub 2012 Aug 16.

18.

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
19.

Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele.

Sakurai M, Kasahara H, Yoshida K, Yoshimi A, Kunimoto H, Watanabe N, Shiraishi Y, Chiba K, Tanaka H, Harada Y, Harada H, Kawakita T, Kurokawa M, Miyano S, Takahashi S, Ogawa S, Okamoto S, Nakajima H.

Blood Cancer J. 2016 Feb 5;6:e392. doi: 10.1038/bcj.2015.81. No abstract available.

20.

Recurrent CDC25C mutations drive malignant transformation in FPD/AML.

Yoshimi A, Toya T, Kawazu M, Ueno T, Tsukamoto A, Iizuka H, Nakagawa M, Nannya Y, Arai S, Harada H, Usuki K, Hayashi Y, Ito E, Kirito K, Nakajima H, Ichikawa M, Mano H, Kurokawa M.

Nat Commun. 2014 Aug 27;5:4770. doi: 10.1038/ncomms5770.

PMID:
25159113

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