ArticleThrombosis and haemostasis2021
Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.
Article in Thrombosis and haemostasis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Circular RNA profiling and functional analysis implicate circ-ANKRD36C as a potential prognostic biomarker in gastric cancer.BMC gastroenterology · 2025Article
- Modeling ANKRD26 5'-UTR mutation-related thrombocytopenia.Disease models & mechanisms · 2025Article
- Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.Frontiers in medicine · 2025Article
- Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.Blood vessels, thrombosis & hemostasis · 2024Article
- Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.Nature communications · 2024Article
- Several implications for the pathogenesis and treatment of thrombosis in PNH patients according to multiomics analysis.Journal of translational medicine · 2024Article
- Animal models for thrombotic thrombocytopenic purpura: a narrative review.Annals of blood · 2023Article
- A Comprehensive Weighted Gene Co-expression Network Analysis Uncovers Potential Targets in Diabetic Kidney Disease.Journal of translational internal medicine · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundImmune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal blood disorder, resulting from autoantibodies against ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13). However, the mechanism underlying anti-ADAMTS13 autoantibody formation is not known, nor it is known how genetic aberrations contribute to the pathogenesis of iTTP.
methodsHere we performed whole exome sequencing (WES) of DNA samples from 40 adult patients with iTTP and 15 local healthy subjects with no history of iTTP and other hematological disorders.
resultsWES revealed variations in the genes involved in protein glycosylation, including O-linked glycosylation, to be a major pathway affected in patients with iTTP. Moreover, variations in the
conclusionAltered glycosylation may affect the disease onset and progression in various ways: it may predispose patients to produce ADAMTS13 autoantibodies or affect their binding properties; it may also alter clearance kinetics of hemostatic and inflammatory proteins. Together, our findings provide novel insights into plausible mechanisms underlying the pathogenesis of iTTP.
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