BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 23100277)

  • 41. VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.
    Bem D; Smith H; Banushi B; Burden JJ; White IJ; Hanley J; Jeremiah N; Rieux-Laucat F; Bettels R; Ariceta G; Mumford AD; Thomas SG; Watson SP; Gissen P
    Blood; 2015 Jul; 126(2):133-43. PubMed ID: 25947942
    [TBL] [Abstract][Full Text] [Related]  

  • 42. NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes.
    Lo RW; Li L; Leung R; Pluthero FG; Kahr WHA
    Arterioscler Thromb Vasc Biol; 2018 Oct; 38(10):2435-2447. PubMed ID: 30354215
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A Case of Chronic Thrombocytopenia in a 17-Year-Old Female.
    Riley R; Khan A; Pai S; Warmke L; Winkler M; Gunning W
    Lab Med; 2019 Oct; 50(4):406-420. PubMed ID: 31228350
    [TBL] [Abstract][Full Text] [Related]  

  • 44. The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome.
    Maynard DM; Heijnen HF; Gahl WA; Gunay-Aygun M
    J Thromb Haemost; 2010 Aug; 8(8):1786-96. PubMed ID: 20524979
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency).
    Lages B; Sussman II; Levine SP; Coletti D; Weiss HJ
    J Lab Clin Med; 1997 Mar; 129(3):364-75. PubMed ID: 9042822
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.
    Perez Botero J; Chen D; Cousin MA; Majerus JA; Coon LM; Kruisselbrink TM; Klee EW; Lazaridis KN; Pruthi RK; Patnaik MM
    Leuk Lymphoma; 2017 Aug; 58(8):1963-1967. PubMed ID: 27931139
    [No Abstract]   [Full Text] [Related]  

  • 48. 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]  

  • 49. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene.
    Alasmari BG; Rayees S; Althubaiti S; Elzubair L; Chendeb S
    Cureus; 2023 Nov; 15(11):e48359. PubMed ID: 38060757
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha delta storage pool deficiency.
    Lages B; Shattil SJ; Bainton DF; Weiss HJ
    J Clin Invest; 1991 Mar; 87(3):919-29. PubMed ID: 1705568
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet α-granules.
    Ambrosio AL; Febvre HP; Di Pietro SM
    Blood; 2022 Feb; 139(6):922-935. PubMed ID: 34905616
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome.
    Jackson CW; Hutson NK; Steward SA; Saito N; Cramer EM
    J Clin Invest; 1991 Jun; 87(6):1985-91. PubMed ID: 2040691
    [TBL] [Abstract][Full Text] [Related]  

  • 54. The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.
    Urban D; Li L; Christensen H; Pluthero FG; Chen SZ; Puhacz M; Garg PM; Lanka KK; Cummings JJ; Kramer H; Wasmuth JD; Parkinson J; Kahr WH
    Blood; 2012 Dec; 120(25):5032-40. PubMed ID: 23002115
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
    Marín-Quílez A; Vuelta E; Díaz-Ajenjo L; Fernández-Infante C; García-Tuñón I; Benito R; Palma-Barqueros V; Hernández-Rivas JM; González-Porras JR; Rivera J; Bastida JM
    J Thromb Haemost; 2022 May; 20(5):1248-1255. PubMed ID: 35170221
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient.
    Aarts CEM; Varga E; Webbers S; Geissler J; von Lindern M; Kuijpers TW; van den Akker E
    Stem Cell Res; 2021 Aug; 55():102443. PubMed ID: 34237592
    [TBL] [Abstract][Full Text] [Related]  

  • 57. 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]  

  • 58. Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review.
    Barghouthi DI; Abu-Hilal LH; Njoum Y; Hasan AD; Alshawwa K; Hourani F
    J Investig Med High Impact Case Rep; 2023; 11():23247096231196697. PubMed ID: 37649376
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Inherited disorders of platelet function: selected updates.
    Nurden AT; Nurden P
    J Thromb Haemost; 2015 Jun; 13 Suppl 1():S2-9. PubMed ID: 26149024
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome.
    Collins JH; Mayer L; Guerrero Lopez JA
    J Thromb Haemost; 2023 Jun; 21(6):1409-1419. PubMed ID: 37028650
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.