BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 28181366)

  • 1. Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.
    Badin MS; Iyer JK; Chong M; Graf L; Rivard GE; Waye JS; Paterson AD; Pare G; Hayward CPM
    Haemophilia; 2017 May; 23(3):e204-e213. PubMed ID: 28181366
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 11():49. PubMed ID: 27112265
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 24606315
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 112(12):4639-45. PubMed ID: 18723428
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect.
    Rao AK; Poncz M
    Haemophilia; 2017 Sep; 23(5):784-792. PubMed ID: 28662545
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.
    Mao GF; Goldfinger LE; Fan DC; Lambert MP; Jalagadugula G; Freishtat R; Rao AK
    J Thromb Haemost; 2017 Apr; 15(4):792-801. PubMed ID: 28075530
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 120(13):2719-22. PubMed ID: 22677128
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman with platelet disorder.
    Obata M; Tsutsumi S; Makino S; Takahashi K; Watanabe N; Yoshida T; Tamiya G; Kurachi H
    Platelets; 2015; 26(4):364-9. PubMed ID: 24853048
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Familial platelet disorder with predisposition to myeloid leukemia (FPD/AML): a case report and literature review].
    Zhang RR; Chen XJ; Ren YY; Yang WY; Zhu XF
    Zhonghua Xue Ye Xue Za Zhi; 2021 Apr; 42(4):308-312. PubMed ID: 33979975
    [No Abstract]   [Full Text] [Related]  

  • 10. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
    Stockley J; Morgan NV; Bem D; Lowe GC; Lordkipanidzé M; Dawood B; Simpson MA; Macfarlane K; Horner K; Leo VC; Talks K; Motwani J; Wilde JT; Collins PW; Makris M; Watson SP; Daly ME;
    Blood; 2013 Dec; 122(25):4090-3. PubMed ID: 24100448
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 113(22):5583-7. PubMed ID: 19357396
    [TBL] [Abstract][Full Text] [Related]  

  • 12. C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.
    Staňo Kozubík K; Radová L; Pešová M; Réblová K; Trizuljak J; Plevová K; Fiamoli V; Gumulec J; Urbánková H; Szotkowski T; Mayer J; Pospíšilová Š; Doubek M
    Int J Hematol; 2018 Dec; 108(6):652-657. PubMed ID: 30083851
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bleeding risks for uncharacterized platelet function disorders.
    Brunet J; Badin M; Chong M; Iyer J; Tasneem S; Graf L; Rivard GE; Paterson AD; Pare G; Hayward CPM
    Res Pract Thromb Haemost; 2020 Jul; 4(5):799-806. PubMed ID: 32685888
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model.
    Marín-Quílez A; García-Tuñón I; Fernández-Infante C; Hernández-Cano L; Palma-Barqueros V; Vuelta E; Sánchez-Martín M; González-Porras JR; Guerrero C; Benito R; Rivera J; Hernández-Rivas JM; Bastida JM
    Thromb Haemost; 2021 Sep; 121(9):1193-1205. PubMed ID: 33626581
    [No Abstract]   [Full Text] [Related]  

  • 15. Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency.
    Jalagadugula G; Mao G; Kaur G; Goldfinger LE; Dhanasekaran DN; Rao AK
    Blood; 2010 Dec; 116(26):6037-45. PubMed ID: 20876458
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Platelet transcriptome analysis in patients with germline RUNX1 mutations.
    Palma-Barqueros V; Bastida JM; López Andreo MJ; Zámora-Cánovas A; Zaninetti C; Ruiz-Pividal JF; Bohdan N; Padilla J; Teruel-Montoya R; Marín-Quilez A; Revilla N; Sánchez-Fuentes A; Rodriguez-Alen A; Benito R; Vicente V; Iturbe T; Greinacher A; Lozano ML; Rivera J; ;
    J Thromb Haemost; 2023 May; 21(5):1352-1365. PubMed ID: 36736831
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bleeding risks associated with inheritance of the Quebec platelet disorder.
    McKay H; Derome F; Haq MA; Whittaker S; Arnold E; Adam F; Heddle NM; Rivard GE; Hayward CP
    Blood; 2004 Jul; 104(1):159-65. PubMed ID: 15026313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).
    Schlegelberger B; Heller PG
    Semin Hematol; 2017 Apr; 54(2):75-80. PubMed ID: 28637620
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 6(2):e392. PubMed ID: 26849013
    [No Abstract]   [Full Text] [Related]  

  • 20. 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. PubMed ID: 18478040
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.