{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Basu MK"],"funding":["HL144552-01A1","NHLBI NIH HHS","U.S. Department of Health and Human Services, National Institutes of Health, National Heart, Lung, and Blood Institute","HL115187"],"pagination":["506-517"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8091491"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["121(4)"],"pubmed_abstract":["<h4>Background</h4> Immune-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.<h4>Methods</h4> Here 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.<h4>Results</h4> WES revealed variations in the genes involved in protein glycosylation, including O-linked glycosylation, to be a major pathway affected in patients with iTTP. Moreover,"],"journal":["Thrombosis and haemostasis"],"pubmed_title":["Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura."],"pmcid":["PMC8091491"],"funding_grant_id":["R01 HL115187","HL144552-01A1","R01 HL164016","U.S. Department of Health and Human Services, National Institutes of Health, National Heart, Lung, and Blood Institute","R01 HL144552","HL115187","R01 HL126724"],"pubmed_authors":["Pillai V","Massicano F","Yu L","Cao W","Basu MK","Halkidis K","Zheng L","Zheng XL"],"additional_accession":[]},"is_claimable":false,"name":"Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.","description":"<h4>Background</h4> Immune-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.<h4>Methods</h4> Here 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.<h4>Results</h4> WES revealed variations in the genes involved in protein glycosylation, including O-linked glycosylation, to be a major pathway affected in patients with iTTP. Moreover,","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Apr","modification":"2026-05-08T02:36:24.812Z","creation":"2024-11-15T17:55:53.957Z"},"accession":"S-EPMC8091491","cross_references":{"pubmed":["33184803"],"doi":["10.1055/s-0040-1719030"]}}