ArticleBlood2010
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Article in Blood, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Analysis of Gray Platelet Syndrome
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders
Who cites it
40 citing papers in PubMed.
- Trial
- Promises and Pitfalls of Whole Exome Sequencing in Therapy-Resistant Chronic Thrombocytopenia in Childhood: A Case Report.Journal of personalized medicine · 2026Article
- Gray platelet syndrome as a multisystem disorder: immune dysregulation, autoimmunity, and metabolic abnormalities.Annals of hematology · 2026Article
- Acquired Gray platelet syndrome as a rare hematologic complication in a case of JAK2-positive post polycythemia Vera myelofibrosis.Annals of hematology · 2025Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- A Novel Homozygous GFI1B Mutation in Siblings With Thrombocytopenia and Bleeding Tendency.Clinical case reports · 2025Article
- Article
- Unveiling the Gray: A Rare Case of Gray Platelet Syndrome With Hepatomegaly and Immune Dysregulation in a 14-Year-Old.Case reports in hematology · 2025Article
- Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.Research and practice in thrombosis and haemostasis · 2023Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Hemostatic phenotypes and genetic disorders.Research and practice in thrombosis and haemostasis · 2021Article
- Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.Haematologica · 2021Review
- Neutrophil specific granule and NETosis defects in gray platelet syndrome.Blood advances · 2021Article
- A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.Journal of blood medicine · 2021Review
- Assembling Disease Networks From Causal Interaction Resources.Frontiers in genetics · 2021Review
- Acquired Gray Platelet Syndrome Associated with Primary Myelofibrosis.Internal medicine (Tokyo, Japan) · 2020Article
- Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood · 2020Article
- Inherited thrombocytopenias: history, advances and perspectives.Haematologica · 2020Review
- Identifying and treating refractory ITP: difficulty in diagnosis and role of combination treatment.Blood · 2020Review
- Syndromes that predispose to epistaxis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2019Review
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Authors and funding
36 authors.
Funding
Abstract
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets on peripheral smears. GPS is associated with a bleeding tendency, myelofibrosis, and splenomegaly. Reports on GPS are limited to case presentations. The causative gene and underlying pathophysiology are largely unknown. We present the results of molecular genetic analysis of 116 individuals including 25 GPS patients from 14 independent families as well as novel clinical data on the natural history of the disease. The mode of inheritance was autosomal recessive (AR) in 11 and indeterminate in 3 families. Using genome-wide linkage analysis, we mapped the AR-GPS gene to a 9.4-Mb interval on 3p21.1-3p22.1, containing 197 protein-coding genes. Sequencing of 1423 (69%) of the 2075 exons in the interval did not identify the GPS gene. Long-term follow-up data demonstrated the progressive nature of the thrombocytopenia and myelofibrosis of GPS resulting in fatal hemorrhages in some patients. We identified high serum vitamin B(12) as a consistent, novel finding in GPS. Chromosome 3p21.1-3p22.1 has not been previously linked to a platelet disorder; identification of the GPS gene will likely lead to the discovery of novel components of platelet organelle biogenesis. This study is registered at www.clinicaltrials.gov as NCT00069680 and NCT00369421.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.