Platelet δ-Storage Pool Disease: An Update

Hermansky–Pudlak syndrome: Mutation update

(2020) Marjan Huizing et al.   HUMAN MUTATION

Diagnosis of Inherited Platelet Disorders on a Blood Smear

(2020) Carlo Zaninetti et al.   Journal of Clinical Medicine

Platelet Electron Microscopy: Utilizing LEAN Methodology to Optimize Laboratory Workflow

(2020) Lucas Asher et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

(2020) Perrine Pennamen et al.   GENETICS IN MEDICINE

A Morphometric Analysis of Platelet Dense Granules of Patients with Unexplained Bleeding: A New Entity of Delta-Microgranular Storage Pool Deficiency

(2020) William T. Gunning et al.   Journal of Clinical Medicine

Flow cytometric mepacrine fluorescence can be used for the exclusion of platelet dense granule deficiency

(2019) Ivar van Asten et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Electron microscopy examination of platelet whole mount preparations to quantitate platelet dense granule numbers: Implications for diagnosing suspected platelet function disorders due to dense granule deficiency

(2018) J. G. Brunet et al.   International Journal of Laboratory Hematology

Diagnostic laboratory standardization and validation of platelet transmission electron microscopy

(2018) Dong Chen et al.   PLATELETS

Inherited platelet disorders : Management of the bleeding risk

(2018) Arnaud Dupuis et al.   TRANSFUSION CLINIQUE ET BIOLOGIQUE

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

(2018) Mohammed Mohammed et al.   European Journal of Medical Genetics

Weak correlation of bleeding scores to platelet electron microscopy: A retrospective chart review of pediatric patients with delta-storage pool disorder

(2018) C. N. Nessle et al.   PEDIATRIC BLOOD & CANCER

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

(2017) Sara Orsini et al.   HAEMATOLOGICA

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders

(2017) A. Greinacher et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

(2017) Carlos R. Ferreira et al.   MOLECULAR GENETICS AND METABOLISM

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

(2017) Sara Orsini et al.   HAEMATOLOGICA

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome

(2017) Yaqiong Jin et al.   Scientific Reports

Respective contributions of single and compound granule fusion to secretion by activated platelets

(2016) Anita Eckly et al.   BLOOD

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

(2016) S. Ammann et al.   BLOOD

Decreased numbers of dense granules in fetal and neonatal platelets

(2016) Denisa Urban et al.   HAEMATOLOGICA

Variability in platelet dense granule adenosine triphosphate release findings amongst patients tested multiple times as part of an assessment for a bleeding disorder

(2016) M. S. Badin et al.   International Journal of Laboratory Hematology

Non-enzymatic quantification of polyphosphate levels in platelet lysates and releasates

(2016) Axel Schlagenhauf et al.   JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders

(2016) D. Westmoreland et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

(2016) Veronique Latger-Cannard et al.   Orphanet Journal of Rare Diseases

Usefulness of Flow Cytometric Mepacrine Uptake/Release Combined with CD63 Assay in Diagnosis of Patients with Suspected Platelet Dense Granule Disorder

(2016) Huili Cai et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Clinical and Laboratory Findings in Patients with δ-Storage Pool Disease: A Case Series

(2016) Fabien Selle et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Decreased numbers of dense granules in fetal and neonatal platelets

(2016) Denisa Urban et al.   HAEMATOLOGICA

Impaired platelet activation and cAMP homeostasis in MRP4-deficient mice

(2015) B. Decouture et al.   BLOOD

Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders

(2015) Elisa Civaschi et al.   BRITISH JOURNAL OF HAEMATOLOGY

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

Reference Range of Platelet Delta Granules in the Pediatric Age Group: An Ultrastructural Study of Platelet Whole Mount Preparations from Healthy Volunteers

(2015) Victoria Sorokin et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Electron cryotomography reveals ultrastructure alterations in platelets from patients with ovarian cancer

(2015) Rui Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders

(2015) Andrew D. Mumford et al.   THROMBOSIS AND HAEMOSTASIS

LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function

(2015) Fernando E. Sepulveda et al.   TRAFFIC

Size-Controlled Synthesis of Granular Polyphosphate Nanoparticles at Physiologic Salt Concentrations for Blood Clotting

(2014) Alexander J. Donovan et al.   BIOMACROMOLECULES

Syntaxin 8 Regulates Platelet Dense Granule Secretion, Aggregation, and Thrombus Stability

(2014) Ewelina M. Golebiewska et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey

(2014) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian

(2013) Alexander L. Ringeisen et al.   JOURNAL OF AAPOS

Recommendations for the standardization of light transmission aggregometry: a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH

(2013) M. Cattaneo et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

New Fundamentals in Hemostasis

(2013) Henri H. Versteeg et al.   PHYSIOLOGICAL REVIEWS

Mechanism of platelet dense granule biogenesis: study of cargo transport and function of Rab32 and Rab38 in a model system

(2012) A. L. Ambrosio et al.   BLOOD

Transporters in human platelets: physiologic function and impact for pharmacotherapy

(2012) G. Jedlitschky et al.   BLOOD

Molecular determinants of platelet delta storage pool deficiencies: an update

(2012) Julien Masliah-Planchon et al.   BRITISH JOURNAL OF HAEMATOLOGY

BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor

(2012) Andreas Gerondopoulos et al.   CURRENT BIOLOGY

Polyphosphate: a link between platelets, coagulation and inflammation

(2012) James H. Morrissey   INTERNATIONAL JOURNAL OF HEMATOLOGY

BLOC-2, AP-3, and AP-1 Proteins Function in Concert with Rab38 and Rab32 Proteins to Mediate Protein Trafficking to Lysosome-related Organelles

(2012) Jarred J. Bultema et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

(2011) Andrew R. Cullinane et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Electrochemical Measurement of Endogenous Serotonin Release from Human Blood Platelets

(2011) Shencheng Ge et al.   ANALYTICAL CHEMISTRY

Role of MRP4 (ABCC4) in Platelet Adenine Nucleotide-Storage

(2010) Gabriele Jedlitschky et al.   AMERICAN JOURNAL OF PATHOLOGY

ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders

(2010) F. RODEGHIERO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

The Level of Laboratory Testing Required for Diagnosis or Exclusion of a Platelet Function Disorder Using Platelet Aggregation and Secretion Assays

(2009) Diego Mezzano et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Light Transmission Aggregometry and ATP Release for the Diagnostic Assessment of Platelet Function

(2009) Marco Cattaneo   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Quantitative and Real-Time Detection of Secretion of Chemical Messengers from Individual Platelets†

(2008) Shencheng Ge et al.   BIOCHEMISTRY

Polyphosphate enhances fibrin clot structure

(2008) S. A. Smith et al.   BLOOD

Interactions between integrin αIIbβ3 and the serotonin transporter regulate serotonin transport and platelet aggregation in mice and humans

(2008) Ana Marin D. Carneiro et al.   JOURNAL OF CLINICAL INVESTIGATION

High Sensitivity, Quantitative Measurements of Polyphosphate Using a New DAPI-Based Approach

(2008) Roozbeh Aschar-Sobbi et al.   JOURNAL OF FLUORESCENCE

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

(2008) Wendy Westbroek et al.   MOLECULAR GENETICS AND METABOLISM

Electron opaque structures in human platelets: Which are or are not dense bodies?

(2008) James G. White   PLATELETS