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ProteomicsNeutrophil specific granule and NETosis defect in Gray Platelet Syndrome
Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss of function variants in NBEAL2, a member of the family of BEACH genes, are causal of GPS. The gene is involved in fusion, fission and t...
ORGANISM(S): Homo sapiens (Human) 
2021-01-28 | PXD017784 | Pride
Neutrophil Gray platelet syndrome 
ProteomicsNovel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Comparitive proteomics analyses of different cell types of blood i.e. platelets, neutrophils, monocytes and CD4 derived from the Gray platelet syndrome patients and their respective controls using TMT10plex reagents.
ORGANISM(S): Homo sapiens (Human) 
2020-07-23 | PXD016366 | Pride
Secretion Bleeding Neutrophils Immunity Platelets Vesicles 
GenomicsNovel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Gray Platelet Syndrome (GPS) is a rare recessive bleeding disorder resulting from biallelic variants in NBEAL2. As part of a comprehensive evaluation of the phenotype and genotype in 47 patients with GPS, four different blood cell-types (platelets, neutrophils, monocytes, and CD4-lymphocytes) were e...
EGAS00001004216 | EGA
ProteomicsThe platelet releasate in healthy population and pregancy
Upon activation, platelets release a multitude of soluble and vesicular signals, collectively termed the ‘platelet releasate’ (PR). This PR plays an important role in haemostasis, wound healing and the inflammatory response. We and others have used qualitative/quantitative proteomic approaches to ch...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2018-08-29 | MSV000082866 | MassIVE
ProteomicsNovel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by absence of platelet ɑ-granules and pathogenic variants in NBEAL2. To discern the spectrum of pathological features, we obtained genotype and phenotype data from 47 GPS patients and performed RNA sequencing and prot...
ORGANISM(S): Homo sapiens (Human) 
2020-07-28 | PXD017227 | Pride
Human Gps Plasma 
GenomicsGrey Platelet Syndrome GPS
As part of the Bloodomics collaboration we have several categories of pedigrees with diseases/syndromes relevant to cardiovascular diseases (CVD). One such pedigree, Grey Platelet Syndrome (GPS) is a rare congenital bleeding disorder caused by a reduction or absence of alpha granules in platelets. E...
EGAS00001000091 | EGA
TranscriptomicsPlatelet transcriptome profile
Transcriptional profiling of platelets from patients with premature atherosclerosis and matched controls
ORGANISM(S): Homo sapiens 
2011-07-07 | E-MTAB-710 | biostudies-arrayexpress
ProteomicsNBEAL2 interactome: comparison between healthy donors and grey platelet syndrome (NBEAL2 deficient) patients activated T cells samples.
Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS develop autoimmunity through an unknown mechanism, which might be related to the proteins NBEAL2 interacts w...
ORGANISM(S): Homo Sapiens (human) 
2023-05-12 | PXD042180 | JPOST Repository
Genomicsena-DATASET-UCAM-GEL-07-02-2020-16:52:33:893-76 - samples
Gray Platelet Syndrome (GPS) is a rare recessive bleeding disorder resulting from biallelic variants in NBEAL2. As part of a comprehensive evaluation of the phenotype and genotype in 47 patients with GPS, four different blood cell-types (platelets, neutrophils, monocytes, and CD4-lymphocytes) were e...
EGAD00001005950 | EGA
UnknownSpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice.
Not available
S-EPMC4780761 | biostudies-literature
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