{"id":"https://openalex.org/W7220445311","doi":"https://doi.org/10.64898/2026.10.04.26363616","title":"Procoagulant plasma in three individuals with stabilin-2 deficiency","display_name":"Procoagulant plasma in three individuals with stabilin-2 deficiency","publication_year":2026,"publication_date":"2026-10-05","ids":{"openalex":"https://openalex.org/W7220445311","doi":"https://doi.org/10.64898/2026.10.04.26363616"},"language":"en","primary_location":{"id":"doi:10.64898/2026.10.04.26363616","doi":"https://doi.org/10.64898/2026.10.04.26363616","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.04.26363616","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2026/10/05/2026.10.04.26363616.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.medrxiv.org/content/medrxiv/early/2026/10/05/2026.10.04.26363616.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113000451","display_name":"R\u00fcdiger Adam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I60668342","display_name":"University of Regensburg","ror":"https://ror.org/01eezs655","country_code":"DE","type":"education","lineage":["https://openalex.org/I60668342"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"R\u00fcdiger Adam","raw_affiliation_strings":["Department of General Pediatrics, DONAUISAR Klinikum Deggendorf and Faculty of Medicine, Regensburg University, 93053 Regensburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of General Pediatrics, DONAUISAR Klinikum Deggendorf and Faculty of Medicine, Regensburg University, 93053 Regensburg, Germany","institution_ids":["https://openalex.org/I60668342"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157605063","display_name":"Alexander Jordan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210156450","display_name":"University Medical Centre Mannheim","ror":"https://ror.org/05sxbyd35","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210156450"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Alexander J. Jordan","raw_affiliation_strings":["Department of General Pediatrics, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of General Pediatrics, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210156450","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091397548","display_name":"Taras Valovka","orcid":"https://orcid.org/0000-0002-1205-2225","observed_orcids":["https://orcid.org/0000-0002-1205-2225"]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Taras Valovka","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157629411","display_name":"Carla Seidl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Carla S. M. Seidl","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052051377","display_name":"Karin Kreidl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Karin Kreidl","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113531374","display_name":"Carl-Erik H. Dempfle","orcid":"https://orcid.org/0000-0002-4703-0798","observed_orcids":["https://orcid.org/0000-0002-4703-0798"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carl-Erik Dempfle","raw_affiliation_strings":["IMD Coagulation Center, 61867 Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"IMD Coagulation Center, 61867 Mannheim, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000381406","display_name":"Dorota Garczarczyk\u2010Asim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Dorota Garczarczyk-Asim","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046159269","display_name":"Annelie Siegemund","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Annelie Siegemund","raw_affiliation_strings":["MVZ Limbach Magdeburg, Center of Coagulation Disorders and Vascular Diseases, 39104 Magdeburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MVZ Limbach Magdeburg, Center of Coagulation Disorders and Vascular Diseases, 39104 Magdeburg, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029054992","display_name":"Stefanie Nittka","orcid":"https://orcid.org/0000-0003-2081-5760","observed_orcids":["https://orcid.org/0000-0003-2081-5760"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210156450","display_name":"University Medical Centre Mannheim","ror":"https://ror.org/05sxbyd35","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210156450"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefanie Nittka","raw_affiliation_strings":["Institute for Clinical Chemistry, University Medical Center and Medical Faculty Mannheim, University of Heidelberg, 68167 Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Clinical Chemistry, University Medical Center and Medical Faculty Mannheim, University of Heidelberg, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210156450","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5128793686","display_name":"Robert M\u00fcller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121311","display_name":"Private University in the Principality of Liechtenstein","ror":"https://ror.org/02pg2aq98","country_code":"LI","type":"education","lineage":["https://openalex.org/I4210121311"]},{"id":"https://openalex.org/I4210131487","display_name":"MVZ Labor Ravensburg","ror":"https://ror.org/03fpt5m65","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210131487"]}],"countries":["DE","LI"],"is_corresponding":false,"raw_author_name":"Robert M\u00fcller","raw_affiliation_strings":["MVZ Labor Ravensburg, 88212 Ravensburg, Germany","Private University of the Principality of Liechtenstein, 9495 Triesen, Liechtenstein"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MVZ Labor Ravensburg, 88212 Ravensburg, Germany","institution_ids":["https://openalex.org/I4210131487"]},{"raw_affiliation_string":"Private University of the Principality of Liechtenstein, 9495 Triesen, Liechtenstein","institution_ids":["https://openalex.org/I4210121311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006086267","display_name":"Petra E. B\u00fcrgisser","orcid":"https://orcid.org/0000-0002-7832-8028","observed_orcids":["https://orcid.org/0000-0002-7832-8028"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Petra B\u00fcrgisser","raw_affiliation_strings":["Hematology, Erasmus University Medical Center, 3015 AA Rotterdam, Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hematology, Erasmus University Medical Center, 3015 AA Rotterdam, Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043038747","display_name":"Ruben Bierings","orcid":"https://orcid.org/0000-0002-1205-9689","observed_orcids":["https://orcid.org/0000-0002-1205-9689"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ruben Bierings","raw_affiliation_strings":["Hematology, Erasmus University Medical Center, 3015 AA Rotterdam, Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-1205-9689","affiliations":[{"raw_affiliation_string":"Hematology, Erasmus University Medical Center, 3015 AA Rotterdam, Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5125051187","display_name":"C B Christoph Brochhausen","orcid":"https://orcid.org/0000-0002-6761-0247","observed_orcids":["https://orcid.org/0000-0002-6761-0247"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210156450","display_name":"University Medical Centre Mannheim","ror":"https://ror.org/05sxbyd35","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210156450"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Christoph Brochhausen-Delius","raw_affiliation_strings":["Institute of Pathology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Pathology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210156450","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028881247","display_name":"Krystin Krauel","orcid":"https://orcid.org/0000-0002-2030-1332","observed_orcids":["https://orcid.org/0000-0002-2030-1332"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210156450","display_name":"University Medical Centre Mannheim","ror":"https://ror.org/05sxbyd35","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210156450"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Krystin Krauel","raw_affiliation_strings":["Department of Cardiology, Haemostaseology, and Medical Intensive Care, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"],"raw_orcid":"https://orcid.org/0000-0002-2030-1332","affiliations":[{"raw_affiliation_string":"Department of Cardiology, Haemostaseology, and Medical Intensive Care, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210156450","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012863184","display_name":"Alice Assinger","orcid":"https://orcid.org/0000-0002-5670-5910","observed_orcids":["https://orcid.org/0000-0002-5670-5910"]},"institutions":[{"id":"https://openalex.org/I4210088178","display_name":"Ludwig Boltzmann Institute for Cardiovascular Research","ror":"https://ror.org/0053xaw54","country_code":"AT","type":"facility","lineage":["https://openalex.org/I2799334681","https://openalex.org/I4210088178"]},{"id":"https://openalex.org/I76134821","display_name":"Medical University of Vienna","ror":"https://ror.org/05n3x4p02","country_code":"AT","type":"education","lineage":["https://openalex.org/I76134821"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Alice Assinger","raw_affiliation_strings":["Institute of Vascular Biology and Thrombosis Research, Department of Physiology and Pharmacology, Medical University of Vienna, 1090 Vienna, Austria","Ludwig Boltzmann Institute for Cardiovascular Research, 1090 Vienna, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Vascular Biology and Thrombosis Research, Department of Physiology and Pharmacology, Medical University of Vienna, 1090 Vienna, Austria","institution_ids":["https://openalex.org/I76134821"]},{"raw_affiliation_string":"Ludwig Boltzmann Institute for Cardiovascular Research, 1090 Vienna, Austria","institution_ids":["https://openalex.org/I4210088178"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070739190","display_name":"Lea Berger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210156450","display_name":"University Medical Centre Mannheim","ror":"https://ror.org/05sxbyd35","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210156450"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Lea Berger","raw_affiliation_strings":["European Center for Angioscience and Section of Clinical and Molecular Dermatology, Department of Dermatology, Venereology, and Allergology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"European Center for Angioscience and Section of Clinical and Molecular Dermatology, Department of Dermatology, Venereology, and Allergology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210156450","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025391200","display_name":"Eray Yagmur","orcid":"https://orcid.org/0000-0003-3328-2027","observed_orcids":["https://orcid.org/0000-0003-3328-2027"]},"institutions":[{"id":"https://openalex.org/I4210092036","display_name":"Westpfalz Klinikum","ror":"https://ror.org/00ma6s786","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210092036"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Eray Yagmur","raw_affiliation_strings":["Institute of Laboratory Medicine, Westpfalz Hospital, 67655 Kaiserslautern, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Laboratory Medicine, Westpfalz Hospital, 67655 Kaiserslautern, Germany","institution_ids":["https://openalex.org/I4210092036"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087133819","display_name":"Anja Schmaus","orcid":"https://orcid.org/0000-0002-5578-5808","observed_orcids":["https://orcid.org/0000-0002-5578-5808"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Anja Schmaus","raw_affiliation_strings":["European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060753648","display_name":"Werner Streif","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Werner Streif","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018138334","display_name":"Cyrill G\u00e9raud","orcid":"https://orcid.org/0000-0001-9432-6869","observed_orcids":["https://orcid.org/0000-0001-9432-6869"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]},{"id":"https://openalex.org/I4210156450","display_name":"University Medical Centre Mannheim","ror":"https://ror.org/05sxbyd35","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210156450"]},{"id":"https://openalex.org/I4387153978","display_name":"Medizinische Fakult\u00e4t Mannheim","ror":"https://ror.org/02m1z0a87","country_code":"DE","type":"education","lineage":["https://openalex.org/I4387153978"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Cyrill G\u00e9raud","raw_affiliation_strings":["European Center for Angioscience and Section of Clinical and Molecular Dermatology, Department of Dermatology, Venereology, and Allergology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"],"raw_orcid":"https://orcid.org/0000-0001-9432-6869","affiliations":[{"raw_affiliation_string":"European Center for Angioscience and Section of Clinical and Molecular Dermatology, Department of Dermatology, Venereology, and Allergology, University Medical Center and Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany","institution_ids":["https://openalex.org/I223822909","https://openalex.org/I4210156450","https://openalex.org/I4387153978"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101764608","display_name":"Thomas M\u00fcller","orcid":"https://orcid.org/0000-0001-8908-5589","observed_orcids":["https://orcid.org/0000-0001-8908-5589"]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Thomas M\u00fcller","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":"https://orcid.org/0000-0001-8908-5589","affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065706727","display_name":"Andreas Janecke","orcid":"https://orcid.org/0000-0001-7155-0315","observed_orcids":["https://orcid.org/0000-0001-7155-0315"]},"institutions":[{"id":"https://openalex.org/I143397708","display_name":"Innsbruck Medical University","ror":"https://ror.org/03pt86f80","country_code":"AT","type":"education","lineage":["https://openalex.org/I143397708"]},{"id":"https://openalex.org/I190249584","display_name":"Universit\u00e4t Innsbruck","ror":"https://ror.org/054pv6659","country_code":"AT","type":"education","lineage":["https://openalex.org/I190249584"]}],"countries":["AT"],"is_corresponding":true,"raw_author_name":"Andreas R. Janecke","raw_affiliation_strings":["Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria"],"raw_orcid":"https://orcid.org/0000-0001-7155-0315","affiliations":[{"raw_affiliation_string":"Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]},{"raw_affiliation_string":"Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria","institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5065706727"],"corresponding_institution_ids":["https://openalex.org/I143397708","https://openalex.org/I190249584"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.8711000084877014,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.8711000084877014,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":0.10610000044107437,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10285","display_name":"Venous Thromboembolism Diagnosis and Management","score":0.003599999938160181,"subfield":{"id":"https://openalex.org/subfields/2724","display_name":"Internal Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/stabilin-2","display_name":"stabilin-2","score":0.9039999842643738},{"id":"https://openalex.org/keywords/venous-thromboembolism","display_name":"venous thromboembolism","score":0.9430000185966492},{"id":"https://openalex.org/keywords/von-willebrand-factor","display_name":"von Willebrand factor","score":0.7590000033378601},{"id":"https://openalex.org/keywords/factor-viii","display_name":"factor VIII","score":0.921999990940094},{"id":"https://openalex.org/keywords/hyaluronic-acid","display_name":"hyaluronic acid","score":0.9440000057220459},{"id":"https://openalex.org/keywords/aberrant-mrna-splicing","display_name":"aberrant mRNA splicing","score":0.7549999952316284},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.8859999775886536},{"id":"https://openalex.org/keywords/central-venous-catheter-thrombosis","display_name":"central venous catheter thrombosis","score":0.8259999752044678},{"id":"https://openalex.org/keywords/pulmonary-embolism","display_name":"pulmonary embolism","score":0.9660000205039978},{"id":"https://openalex.org/keywords/liver-sinusoidal-endothelial-cells","display_name":"liver sinusoidal endothelial cells","score":0.843999981880188},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.7889999747276306}],"concepts":[{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6682999730110168},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6604999899864197},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.6028000116348267},{"id":"https://openalex.org/C2779394231","wikidata":"https://www.wikidata.org/wiki/Q412310","display_name":"Von Willebrand factor","level":3,"score":0.5245000123977661},{"id":"https://openalex.org/C2777766500","wikidata":"https://www.wikidata.org/wiki/Q360841","display_name":"Liver biopsy","level":3,"score":0.5077999830245972},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4542999863624573},{"id":"https://openalex.org/C166342232","wikidata":"https://www.wikidata.org/wiki/Q11936831","display_name":"Minigene","level":5,"score":0.40299999713897705},{"id":"https://openalex.org/C2992139802","wikidata":"https://www.wikidata.org/wiki/Q179217","display_name":"Clotting factor","level":2,"score":0.3718000054359436},{"id":"https://openalex.org/C2778382381","wikidata":"https://www.wikidata.org/wiki/Q179217","display_name":"Coagulation","level":2,"score":0.36880001425743103},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.36230000853538513},{"id":"https://openalex.org/C41443022","wikidata":"https://www.wikidata.org/wiki/Q27796666","display_name":"Scavenger receptor","level":4,"score":0.3467999994754791},{"id":"https://openalex.org/C2777214474","wikidata":"https://www.wikidata.org/wiki/Q147778","display_name":"Cirrhosis","level":2,"score":0.3416999876499176},{"id":"https://openalex.org/C2780921031","wikidata":"https://www.wikidata.org/wiki/Q14873945","display_name":"ADAMTS13","level":4,"score":0.3375000059604645},{"id":"https://openalex.org/C2776046644","wikidata":"https://www.wikidata.org/wiki/Q422831","display_name":"Factor V","level":3,"score":0.3296000063419342},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.3264000117778778},{"id":"https://openalex.org/C2992208098","wikidata":"https://www.wikidata.org/wiki/Q1359801","display_name":"Liver function","level":2,"score":0.32510000467300415},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.3222000002861023},{"id":"https://openalex.org/C11569505","wikidata":"https://www.wikidata.org/wiki/Q727265","display_name":"Asialoglycoprotein receptor","level":4,"score":0.3057999908924103},{"id":"https://openalex.org/C50440223","wikidata":"https://www.wikidata.org/wiki/Q1475848","display_name":"Risk factor","level":2,"score":0.27790001034736633},{"id":"https://openalex.org/C2780842393","wikidata":"https://www.wikidata.org/wiki/Q1570013","display_name":"Thrombophilia","level":3,"score":0.2581999897956848},{"id":"https://openalex.org/C2780011451","wikidata":"https://www.wikidata.org/wiki/Q2751330","display_name":"Venous thrombosis","level":3,"score":0.2540999948978424},{"id":"https://openalex.org/C2780930249","wikidata":"https://www.wikidata.org/wiki/Q412850","display_name":"Factor VII","level":3,"score":0.25110000371932983}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.10.04.26363616","doi":"https://doi.org/10.64898/2026.10.04.26363616","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.04.26363616","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2026/10/05/2026.10.04.26363616.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.64898/2026.10.04.26363616","doi":"https://doi.org/10.64898/2026.10.04.26363616","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.10.04.26363616","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2026/10/05/2026.10.04.26363616.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7220445311.pdf","grobid_xml":"https://content.openalex.org/works/W7220445311.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W1563940013","https://openalex.org/W1868357191","https://openalex.org/W1934803189","https://openalex.org/W1970399260","https://openalex.org/W1988424812","https://openalex.org/W2010480948","https://openalex.org/W2031259207","https://openalex.org/W2055069441","https://openalex.org/W2071507649","https://openalex.org/W2086584838","https://openalex.org/W2103441770","https://openalex.org/W2125393836","https://openalex.org/W2136727920","https://openalex.org/W2137714906","https://openalex.org/W2137886330","https://openalex.org/W2153462525","https://openalex.org/W2166644552","https://openalex.org/W2167124095","https://openalex.org/W2168133698","https://openalex.org/W2169509672","https://openalex.org/W2170663857","https://openalex.org/W2608516201","https://openalex.org/W2886206473","https://openalex.org/W2901097982","https://openalex.org/W2909194804","https://openalex.org/W3032605465","https://openalex.org/W3176240582","https://openalex.org/W3197448536","https://openalex.org/W4210748813","https://openalex.org/W4224247722","https://openalex.org/W4226065462","https://openalex.org/W4229014467","https://openalex.org/W4308060355","https://openalex.org/W4386091014","https://openalex.org/W4387354365","https://openalex.org/W4389391230","https://openalex.org/W4393344877","https://openalex.org/W4407626388","https://openalex.org/W4409271383","https://openalex.org/W4411406763","https://openalex.org/W7124431961"],"related_works":["https://openalex.org/W3176240582","https://openalex.org/W7219290567","https://openalex.org/W3207597211","https://openalex.org/W3032605465","https://openalex.org/W4407626388","https://openalex.org/W2886206473","https://openalex.org/W2784273498","https://openalex.org/W7220366256","https://openalex.org/W4362606878","https://openalex.org/W3122994536"],"abstract_inverted_index":{"Abstract":[0],"BACKGROUND":[1],"Rare":[2],"STAB2":[3,19,90,131,136,152,221],"loss-of-function":[4],"variants":[5],"emerged":[6],"in":[7,100,104,169,177,189,226,254,281,285],"population":[8],"studies":[9],"as":[10,263,294],"being":[11],"associated":[12],"with":[13,55,245,268,275],"elevated":[14,35,168,176,184,247,291],"venous":[15,65],"thromboembolism":[16],"(VTE)":[17],"risk.":[18],"encodes":[20],"the":[21,69,74,151,201,238],"cell-surface":[22],"scavenger":[23],"receptor":[24],"stabilin-2,":[25],"and":[26,46,78,93,103,112,114,143,164,172,251],"reduced":[27],"stabilin-2":[28,230,243,280],"function":[29],"might":[30],"increase":[31],"VTE":[32,85],"risk":[33,86],"via":[34],"plasma":[36],"levels":[37,119,163,186,253],"of":[38,63,73,159,215,228,242,297],"its":[39,94],"ligands,":[40],"including":[41,68],"von":[42],"Willebrand":[43],"factor":[44,48],"(VWF)":[45],"coagulation":[47],"VIII":[49],"(FVIII).":[50],"METHODS":[51],"An":[52],"adolescent":[53],"patient":[54],"dependency":[56],"on":[57,96,125,196],"parenteral":[58],"nutrition":[59],"had":[60,156],"experienced":[61],"episodes":[62],"central":[64],"catheter-related":[66],"thrombosis,":[67],"complete":[70],"thrombotic":[71],"occlusion":[72],"deep":[75],"pelvic":[76],"veins,":[77],"pulmonary":[79],"embolism.":[80],"Exome":[81],"sequencing":[82],"for":[83,150,279],"increased":[84],"identified":[87],"a":[88,105,197,264,276,295],"homozygous":[89,149,179,192],"splice-site":[91,132,153,222],"variant":[92,133,154,223],"effect":[95],"splicing":[97,107],"was":[98,123,175],"characterized":[99],"fibroblast-derived":[101],"RNA":[102],"minigene":[106],"system.":[108],"Plasma":[109,161],"VWF,":[110,250],"FVIII,":[111],"fibrinogen":[113],"serum":[115],"hyaluronic":[116],"acid":[117],"(HA)":[118],"were":[120,147,167,187],"determined.":[121],"Immunohistochemistry":[122],"performed":[124],"liver":[126,198,211,216],"biopsy":[127,199],"tissue.":[128],"RESULTS":[129],"The":[130,139,220,271],"caused":[134],"aberrant":[135],"mRNA":[137],"splicing.":[138],"patient\u2019s":[140],"healthy":[141,145],"mother":[142,203],"one":[144],"sibling":[146],"also":[148],"but":[155,287],"no":[157,205],"history":[158],"VTE.":[160,298],"FVIII":[162,252],"VWF":[165,173],"activity":[166],"all":[170,190],"three,":[171],"antigen":[174],"two":[178],"individuals.":[180,193],"Strikingly,":[181],"approximately":[182],"1000-fold":[183],"HA":[185,283,292],"observed":[188],"three":[191],"Stabilin-2":[194],"immunohistochemistry":[195],"from":[200],"proband\u2019s":[202],"revealed":[204],"detectable":[206,229],"signal,":[207],"whereas":[208],"control":[209],"human":[210],"showed":[212],"strong":[213],"labelling":[214],"sinusoidal":[217],"endothelial":[218],"cells.":[219],"thus":[224],"results":[225],"loss":[227],"protein.":[231],"CONCLUSIONS":[232],"To":[233],"current":[234],"knowledge,":[235],"this":[236],"is":[237],"first":[239],"family-based":[240],"report":[241],"deficiency":[244],"markedly":[246],"circulating":[248,282],"HA,":[249],"humans.":[255],"These":[256],"findings":[257],"support":[258],"impaired":[259],"stabilin-2-dependent":[260],"ligand":[261],"clearance":[262,284],"thrombosis":[265],"susceptibility":[266],"state":[267],"incomplete":[269],"penetrance.":[270],"data":[272],"are":[273],"consistent":[274],"significant":[277],"role":[278],"humans,":[286],"do":[288],"not":[289],"establish":[290],"itself":[293],"cause":[296]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-10-06T00:00:00"}
