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We carried out a novel clinical biomarker investigation of the blood of systemic mastocytosis patients versus healthy controls; utilizing a new and emerging technology platform Sequential Window Acquisition of all Theoretical fragment-ion spectra mass spectrometry (SWATH-MS). This is the first use ...
ORGANISM(S): Homo sapiens (Human) 
2022-05-20 | PXD030947 | Pride
he aim of the project is to characterize qualitatively and quantitatively the interaction of cystatin D in other protein partner and the formation of a complex in whole saliva of patients affected by different forms of systemic mastocytosis (SM), with and without skin involvement. The different comp...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD042567 | Pride
Mastocytosis is a myeloproliferative neoplasm characterized by infiltration of clonally derived mast cells in different tissues. According to mast cells localization, it is possible to discriminate cutaneous mastocytosis (CM) from systemic mastocytosis (SM), the latter involving at least an extracut...
ORGANISM(S): Homo sapiens (Human) 
2020-06-25 | PXD017759 | Pride
The association of Greig cephalopolysyndactyly syndrome and congenital mastocytosis reveals the hedgehog signaling pathway involvement in mastocytosis development
Mastocytosis is a heterogeneous disease characterized by an abnormal accumulation of mast cells (MCs) in one or several organs.Although a somatic KIT D816V mutation is detected in ~85% of patients, attempts to demonstrate its oncogenic effect alone have repeatedly failed, suggesting that additional ...
ORGANISM(S): Homo sapiens 
To identify SNPs predisposing to systemic mastocytosis (SM) we performed a two stage GWAs consisting of two cohorts from the UK and Germany at stage 1 and three cohorts from Spain, Italy and Denmark at stage 2. At both stages, the SM cases were compared with publicly available controls. The control ...
ORGANISM(S): Homo sapiens 
Genomics
Familial Mastocytosis
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