The gray platelet syndrome: clinical spectrum of the disease
about
NBEAL2 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 3pThe contribution of mouse models to the understanding of constitutional thrombocytopeniaSerglycin in health and diseasesSpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in MiceThe secret life of a megakaryocyte: emerging roles in bone marrow homeostasis controlIκB kinase phosphorylation of SNAP-23 controls platelet secretionMutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndromeAbnormal megakaryocyte development and platelet function in Nbeal2(-/-) miceGray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.Analysis of the spatial and temporal characteristics of platelet-delivered factor VIII-based clotsInherited platelet disorders: thrombocytopenias and thrombocytopathies.The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome.Current Strategies in Diagnosis of Inherited Storage Pool DefectsMechanism of platelet factor 4 (PF4) deficiency with RUNX1 haplodeficiency: RUNX1 is a transcriptional regulator of PF4.Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantlyPlatelet disorders in children: A diagnostic approach.Inherited platelet disorders: a clinical approach to diagnosis and management.Inherited thrombocytopenias: an approach to diagnosis and management.Genetics of familial forms of thrombocytopenia.Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiencyPlatelets in pulmonary vascular physiology and pathology.A case of gray platelet syndrome masked by immune thrombocytopenia at presentation.The Nbeal2(-/-) mouse as a model for the gray platelet syndrome.Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patientsInherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivoα-granule biogenesis: from disease to discovery.Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interactionAspirin: pharmacology and clinical applicationsVAMP-7 links granule exocytosis to actin reorganization during platelet activation.Platelet-derived CD154: ultrastructural localization and clinical correlation in organ transplantationSerglycin proteoglycan deletion induces defects in platelet aggregation and thrombus formation in mice.Platelet secretion is kinetically heterogeneous in an agonist-responsive manner.The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.What's new in using platelet research? To unravel thrombopathies and other human disorders.The platelet release reaction: just when you thought platelet secretion was simplePlatelet alpha-granules: basic biology and clinical correlates.Contemporary platelet function testing.Advances in our understanding of the molecular basis of disorders of platelet function.
P2860
Q24314992-C817F34D-CCA0-45E0-8A81-C261C027ED0DQ24618306-987826C6-2BE6-4697-8003-E22724CA29CFQ26740409-11A51578-3713-4342-AD71-BC3C4C24041BQ27021780-321DE31A-253A-456F-B061-A3F9A99F443FQ27318606-3BEFD80A-9B31-4309-A384-7857A1FB73E4Q28082685-D142FCBD-B68E-42D1-87AB-364D876146FEQ28114792-25F6500A-E989-44A1-BA72-B97FFE8BD433Q28243405-F73C3571-6638-4A43-B8D1-86EDB1036529Q28506840-BA3CE2E5-363B-4C66-B164-45F293AE7902Q28590644-8013AE17-0DF1-4976-9354-DD316B3BC7DAQ30483038-532B1FAE-312F-4282-813D-DF26586EFF25Q33387543-0915CFD6-A260-4716-9FA3-31B86ABA8A69Q33389932-93694208-3904-4B6C-ACC7-3664ECDF93CDQ33393005-6AADD22E-B697-4FA2-A750-D84DDCFFC116Q33393133-442C2055-4E5D-4264-82B2-F117465F1001Q33393804-C22F0E9A-1E9B-48C5-BAA7-73892E5CF5D5Q33393990-0C20461C-FEED-4718-927E-95C35BCC8E17Q33396427-3CD5E5AB-9214-4574-BD26-A937739318BBQ33402583-D242CF25-92B6-465B-9E7F-83B724C5B78EQ33402780-A8BF0AC0-495C-4F56-8A70-CD121BAD6E82Q33404035-A05FE8E5-8428-49EA-9420-BFD36072B6FAQ33404240-8EF2F758-7630-4572-B89D-914ABE40F860Q33413580-9400B904-A319-4395-8063-57E8FC8FCF99Q33416324-BCB60541-3DCD-4C9D-9184-07CE77699477Q33430809-11DAB163-450F-450D-A3FB-11285E573204Q33431116-46581FAD-3BA2-45AC-BB17-0A895A5C41F3Q33435199-B34C42C6-A12A-41BC-AB3F-A69E6811E192Q33439977-352D878B-7AB8-4BAC-A642-F9A89C471911Q35604075-B8CE1C00-D02C-4908-999B-80D22B5B143CQ35608778-AA60C833-56A3-4111-876F-E5AE5BC1918FQ35904952-05ADCB44-E615-465F-BDB5-39B42A891E02Q36356824-F66F8E9C-8470-4028-96F0-54E72159A589Q36508868-19D814FF-6F4F-4300-BAF3-7C3738F70329Q36509648-3D214B3A-2E79-4CCC-8021-E5F6DBDBE218Q36514469-07F0AC1C-62BC-453B-8387-63AC3FC165A3Q36874262-9B2AC10D-A7FB-4617-82D1-066A7BBC7D36Q37150648-1BA81F51-8617-48A6-AF8D-51F7D95AC63BQ37487079-B1B257BA-620F-40AB-9265-441132C812C4Q37690764-5B6B364A-2BFE-4F92-849B-CF9412E59F0DQ37903933-7A569DA5-89B2-4F6E-BF0B-420CDD6B52F0
P2860
The gray platelet syndrome: clinical spectrum of the disease
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
The gray platelet syndrome: clinical spectrum of the disease
@ast
The gray platelet syndrome: clinical spectrum of the disease
@en
The gray platelet syndrome: clinical spectrum of the disease
@nl
type
label
The gray platelet syndrome: clinical spectrum of the disease
@ast
The gray platelet syndrome: clinical spectrum of the disease
@en
The gray platelet syndrome: clinical spectrum of the disease
@nl
prefLabel
The gray platelet syndrome: clinical spectrum of the disease
@ast
The gray platelet syndrome: clinical spectrum of the disease
@en
The gray platelet syndrome: clinical spectrum of the disease
@nl
P3181
P1433
P1476
The gray platelet syndrome: clinical spectrum of the disease
@en
P2093
Alan T Nurden
Paquita Nurden
P3181
P356
10.1016/J.BLRE.2005.12.003
P407
P577
2007-01-01T00:00:00Z