BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 30591527)

  • 21. Inherited thrombocytopenias-recent advances in clinical and molecular aspects.
    Balduini CL; Melazzini F; Pecci A
    Platelets; 2017 Jan; 28(1):3-13. PubMed ID: 27161842
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Pedigree Analysis of ACTN1-Related Thrombocytopenia Attributed to A Novel Mutation].
    Liu JX; Wang CJ; Dai JH; Zhang MX; Lyu M; Sun YQ; Jiang B
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2022 Apr; 30(2):565-570. PubMed ID: 35395998
    [TBL] [Abstract][Full Text] [Related]  

  • 23. In vivo inactivation of MASTL kinase results in thrombocytopenia.
    Johnson HJ; Gandhi MJ; Shafizadeh E; Langer NB; Pierce EL; Paw BH; Gilligan DM; Drachman JG
    Exp Hematol; 2009 Aug; 37(8):901-8. PubMed ID: 19460416
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.
    Johnson B; Fletcher SJ; Morgan NV
    Platelets; 2016 Sep; 27(6):519-25. PubMed ID: 27025194
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Megakaryocytes and inherited thrombocytopenias.
    Bellucci S
    Baillieres Clin Haematol; 1997 Feb; 10(1):149-62. PubMed ID: 9154320
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Megakaryocyte modification of platelets in thrombocytopenia.
    Roweth HG; Parvin S; Machlus KR
    Curr Opin Hematol; 2018 Sep; 25(5):410-415. PubMed ID: 29985173
    [TBL] [Abstract][Full Text] [Related]  

  • 27. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
    Faleschini M; Melazzini F; Marconi C; Giangregorio T; Pippucci T; Cigalini E; Pecci A; Bottega R; Ramenghi U; Siitonen T; Seri M; Pastore A; Savoia A; Noris P
    Br J Haematol; 2018 Oct; 183(2):276-288. PubMed ID: 30351444
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
    Guéguen P; Rouault K; Chen JM; Raguénès O; Fichou Y; Hardy E; Gobin E; Pan-Petesch B; Kerbiriou M; Trouvé P; Marcorelles P; Abgrall JF; Le Maréchal C; Férec C
    PLoS One; 2013; 8(9):e74728. PubMed ID: 24069336
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A new familial 'giant platelet syndrome' with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect.
    Greaves M; Pickering C; Martin J; Cartwright I; Preston FE
    Br J Haematol; 1987 Apr; 65(4):429-35. PubMed ID: 3580299
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment.
    Sabri S; Foudi A; Boukour S; Franc B; Charrier S; Jandrot-Perrus M; Farndale RW; Jalil A; Blundell MP; Cramer EM; Louache F; Debili N; Thrasher AJ; Vainchenker W
    Blood; 2006 Jul; 108(1):134-40. PubMed ID: 16522820
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
    Turro E; Greene D; Wijgaerts A; Thys C; Lentaigne C; Bariana TK; Westbury SK; Kelly AM; Selleslag D; Stephens JC; Papadia S; Simeoni I; Penkett CJ; Ashford S; Attwood A; Austin S; Bakchoul T; Collins P; Deevi SV; Favier R; Kostadima M; Lambert MP; Mathias M; Millar CM; Peerlinck K; Perry DJ; Schulman S; Whitehorn D; Wittevrongel C; ; De Maeyer M; Rendon A; Gomez K; Erber WN; Mumford AD; Nurden P; Stirrups K; Bradley JR; Raymond FL; Laffan MA; Van Geet C; Richardson S; Freson K; Ouwehand WH
    Sci Transl Med; 2016 Mar; 8(328):328ra30. PubMed ID: 26936507
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients.
    Di Buduo CA; Alberelli MA; Glembostky AC; Podda G; Lev PR; Cattaneo M; Landolfi R; Heller PG; Balduini A; De Candia E
    Sci Rep; 2016 Mar; 6():23213. PubMed ID: 26987485
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The biogenesis of platelets from megakaryocyte proplatelets.
    Patel SR; Hartwig JH; Italiano JE
    J Clin Invest; 2005 Dec; 115(12):3348-54. PubMed ID: 16322779
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Inherited thrombocytopenias: molecular mechanisms.
    Balduini CL; Savoia A
    Semin Thromb Hemost; 2004 Oct; 30(5):513-23. PubMed ID: 15497094
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
    Johnson B; Lowe GC; Futterer J; Lordkipanidzé M; MacDonald D; Simpson MA; Sanchez-Guiú I; Drake S; Bem D; Leo V; Fletcher SJ; Dawood B; Rivera J; Allsup D; Biss T; Bolton-Maggs PH; Collins P; Curry N; Grimley C; James B; Makris M; Motwani J; Pavord S; Talks K; Thachil J; Wilde J; Williams M; Harrison P; Gissen P; Mundell S; Mumford A; Daly ME; Watson SP; Morgan NV;
    Haematologica; 2016 Oct; 101(10):1170-1179. PubMed ID: 27479822
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production.
    Geddis AE; Kaushansky K
    Curr Opin Pediatr; 2004 Feb; 16(1):15-22. PubMed ID: 14758109
    [TBL] [Abstract][Full Text] [Related]  

  • 37. ACTN1 mutations cause congenital macrothrombocytopenia.
    Kunishima S; Okuno Y; Yoshida K; Shiraishi Y; Sanada M; Muramatsu H; Chiba K; Tanaka H; Miyazaki K; Sakai M; Ohtake M; Kobayashi R; Iguchi A; Niimi G; Otsu M; Takahashi Y; Miyano S; Saito H; Kojima S; Ogawa S
    Am J Hum Genet; 2013 Mar; 92(3):431-8. PubMed ID: 23434115
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A dominant-negative GFI1B mutation in the gray platelet syndrome.
    Monteferrario D; Bolar NA; Marneth AE; Hebeda KM; Bergevoet SM; Veenstra H; Laros-van Gorkom BA; MacKenzie MA; Khandanpour C; Botezatu L; Fransen E; Van Camp G; Duijnhouwer AL; Salemink S; Willemsen B; Huls G; Preijers F; Van Heerde W; Jansen JH; Kempers MJ; Loeys BL; Van Laer L; Van der Reijden BA
    N Engl J Med; 2014 Jan; 370(3):245-53. PubMed ID: 24325358
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan.
    Yoshimi A; Toya T; Nannya Y; Takaoka K; Kirito K; Ito E; Nakajima H; Hayashi Y; Takahashi T; Moriya-Saito A; Suzuki K; Harada H; Komatsu N; Usuki K; Ichikawa M; Kurokawa M
    Ann Oncol; 2016 May; 27(5):887-95. PubMed ID: 26884589
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.