NBEAL2 mutations and bleeding in patients with gray platelet syndrome
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Title
NBEAL2 mutations and bleeding in patients with gray platelet syndrome
Authors
Keywords
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Journal
PLATELETS
Volume -, Issue -, Pages 1-4
Publisher
Informa UK Limited
Online
2018-06-05
DOI
10.1080/09537104.2018.1478405
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Related references
Note: Only part of the references are listed.- BEACHcombing for α-granules
- (2018) Sidney W. Whiteheart BLOOD
- The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer
- (2017) Anouck Wijgaerts et al. HAEMATOLOGICA
- A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome
- (2017) Lijuan Cao et al. PLATELETS
- Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
- (2017) Walter H. A. Kahr et al. Nature Communications
- The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer
- (2017) Anouck Wijgaerts et al. HAEMATOLOGICA
- Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients
- (2016) Christian A. Di Buduo et al. Scientific Reports
- Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome
- (2015) A. Rensing-Ehl et al. BLOOD
- Abnormal megakaryocyte development and platelet function in Nbeal2-/- mice
- (2013) W. H. A. Kahr et al. BLOOD
- Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice
- (2013) Carsten Deppermann et al. JOURNAL OF CLINICAL INVESTIGATION
- The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet -granule biogenesis
- (2012) D. Urban et al. BLOOD
- Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and -granule deficiency
- (2012) R. Bottega et al. HAEMATOLOGICA
- Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly
- (2011) S. Fabbro et al. BLOOD
- Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
- (2011) Walter HA Kahr et al. NATURE GENETICS
- Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
- (2011) Cornelis A Albers et al. NATURE GENETICS
- NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
- (2011) Meral Gunay-Aygun et al. NATURE GENETICS
- Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
- (2010) M. Gunay-Aygun et al. BLOOD
- Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
- (2010) Andrew R Cullinane et al. NATURE GENETICS
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