Molecular determinants of platelet delta storage pool deficiencies: an update. - Wikidata - awgldk - TriplyDB

Molecular determinants of platelet delta storage pool deficiencies: an update.

Molecular determinants of platelet delta storage pool deficiencies: an update.

http://www.wikidata.org/entity/Q38048349

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Towards the targeted management of Chediak-Higashi syndrome Congenital platelet disorders and understanding of platelet function.Intramedullary megakaryocytes internalize released platelet factor 4 and store it in alpha granules.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.The nuts and bolts of the platelet release reaction.Genetic sequence analysis of inherited bleeding diseases.Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.Secrets of platelet exocytosis - what do we really know about platelet secretion mechanisms?Platelet secretion: From haemostasis to wound healing and beyond.Platelet function testing: from routine to specialist testing.Essential Roles of Dopamine and Serotonin in Tooth Repair: Functional Interplay Between Odontogenic Stem Cells and Platelets.Dangerous liaisons: complement, coagulation, and kallikrein/kinin cross-talk act as a linchpin in the events leading to thromboinflammation.Storage pool diseases illuminate platelet dense granule biogenesis.Cell-Based Biohybrid Drug Delivery Systems: The Best of the Synthetic and Natural Worlds.Determination of ATP and ADP Secretion from Human and Mouse Platelets by an HPLC Assay.Nbeal2 interacts with Dock7, Sec16a, and Vac14.The ophthalmic presentation of Hermansky-Pudlak syndrome 6.Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.Use of a microchip flow-chamber system as a screening test for platelet storage pool disease.

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P2860

Molecular determinants of platelet delta storage pool deficiencies: an update.

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Molecular determinants of platelet delta storage pool deficiencies: an update.

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Molecular determinants of platelet delta storage pool deficiencies: an update.

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Molecular determinants of platelet delta storage pool deficiencies: an update.

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British Journal of Haematology

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Molecular determinants of platelet delta storage pool deficiencies: an update.

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Julien Masliah-Planchon

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Luc Darnige

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Sylvia Bellucci

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P2860

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage

Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion

BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies

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5-11

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10.1111/BJH.12064

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1

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160

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2012-10-01T00:00:00Z

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23025459

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