Gray platelet syndrome. A variety of qualitative platelet disorder
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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeNBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesGray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pSpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in MiceZinc finger protein, Hzf, is required for megakaryocyte development and hemostasisGray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.The biogenesis of platelets from megakaryocyte proplatelets.The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome.Current Strategies in Diagnosis of Inherited Storage Pool DefectsHomozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantlyCorrelation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiencyThe Nbeal2(-/-) mouse as a model for the gray platelet syndrome.Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patientsEndobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivoThe transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiencyDefective alpha-granule production in megakaryocytes from gray platelet syndrome: ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors.Ultrastructural features of abnormal blood platelets. A review.Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome.Pseudo-grey platelet syndrome: a rare artifact.Historical perspective and future directions in platelet research.Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface.Ultrastructural studies of the gray platelet syndromePlatelet-derived CD154: ultrastructural localization and clinical correlation in organ transplantationP-selectin, a granule membrane protein of platelets and endothelial cells, follows the regulated secretory pathway in AtT-20 cells.Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granulesDisorders of platelet function: mechanisms, diagnosis and management.The organization of microtubules and microtubule coils in giant platelet disorders.Nbeal2 interacts with Dock7, Sec16a, and Vac14.Sorting machineries: how platelet-dense granules differ from α-granules
P2860
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P2860
Gray platelet syndrome. A variety of qualitative platelet disorder
description
im Dezember 1971 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 1971
@uk
name
Gray platelet syndrome. A variety of qualitative platelet disorder
@en
Gray platelet syndrome. A variety of qualitative platelet disorder
@nl
type
label
Gray platelet syndrome. A variety of qualitative platelet disorder
@en
Gray platelet syndrome. A variety of qualitative platelet disorder
@nl
prefLabel
Gray platelet syndrome. A variety of qualitative platelet disorder
@en
Gray platelet syndrome. A variety of qualitative platelet disorder
@nl
P1476
Gray platelet syndrome. A variety of qualitative platelet disorder
@en
P2093
G Raccuglia
P304
P407
P577
1971-12-01T00:00:00Z