Article

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

2020-03-27

Abstract excerpt

Gray platelet syndrome (GPS) is a rare recessive disorder caused by variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet ɑ-granules, splenomegaly and bone marrow (BM) fibrosis. Due to its rarity, it has been difficult to fully understand the pathogenic processes that lead to these clinical sequelae. To discern the spectrum of pathological features, we performed a detailed clinical gen...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2afe4f6e-3a3f-53c9-979a-1789d300c315
DOI: 10.1101/2020.03.23.20041467

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel manifestations of immune dysregulation and granule defects in gray platelet syndromeDOI 10.1101/2020.03.23.20041467Read

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Semantic proximity Read

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.Semantic proximity Read

Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis.Semantic proximity Read

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.Semantic proximity Read

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.Semantic proximity Read

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and managementSemantic proximity Read

NBEAL2 gene mutations do not always lead to gray platelet syndrome: A case report.Semantic proximity Read

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.Semantic proximity Read

Neutrophil specific granule and NETosis defects in gray platelet syndromeSemantic proximity Read

Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.Semantic proximity Read

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?Semantic proximity Read

Inherited platelet disorders: toward DNA-based diagnosisSemantic proximity Read