{"entity": "researcher", "timestamp": "2026-08-20T20:36:44.555Z", "family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "affiliations": [], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2"}}, "publications": [{"entity": "publication", "iuid": "8f211faff1b34845bac63030e2ac437a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8f211faff1b34845bac63030e2ac437a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8f211faff1b34845bac63030e2ac437a"}}, "title": "Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.", "authors": [{"family": "Rychlicka-Buniowska", "given": "Edyta", "initials": "E", "orcid": "0000-0001-8050-2489", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d6d15c10afd4e9fb2b0a3f4488e0293.json"}}, {"family": "Sarkisyan", "given": "Daniil", "initials": "D"}, {"family": "Horbacz", "given": "Monika", "initials": "M"}, {"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Dr\u0119\u017cek-Chy\u0142a", "given": "Kinga", "initials": "K"}, {"family": "Koszy\u0144ski", "given": "Miko\u0142aj", "initials": "M"}, {"family": "Davies", "given": "Hanna", "initials": "H"}, {"family": "Juhas", "given": "Ulana", "initials": "U", "orcid": "0000-0001-8393-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b60a9482cdc4494aaed35243e04fbc42.json"}}, {"family": "W\u00f3jcik-Zalewska", "given": "Magdalena", "initials": "M"}, {"family": "Klich-R\u0105czka", "given": "Alicja", "initials": "A", "orcid": "0000-0002-9311-0078", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1769068b00f047a1a9acfc40da1697ce.json"}}, {"family": "Kilander", "given": "Lena", "initials": "L"}, {"family": "Ingelsson", "given": "Martin", "initials": "M"}, {"family": "Bukowska-Strakova", "given": "Karolina", "initials": "K", "orcid": "0000-0001-9181-439X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b51ac8fa49c64b9eb451c3eea6ca9420.json"}}, {"family": "W\u0119glarczyk", "given": "Kazimierz", "initials": "K"}, {"family": "Siedlar", "given": "Maciej", "initials": "M", "orcid": "0000-0002-3904-5412", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e4e3fe27b0244d56b31c564e6cc85ccc.json"}}, {"family": "Baran", "given": "Jaros\u0142aw", "initials": "J"}, {"family": "Ry\u015b", "given": "Janusz", "initials": "J"}, {"family": "Piotrowski", "given": "Arkadiusz", "initials": "A"}, {"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/64588db686e244778a885aebaa19c2c2.json"}}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}], "type": "journal article", "published": "2026-02-00", "journal": {"title": "Life Sci. Alliance", "issn": "2575-1077", "volume": "9", "issue": "2", "issn-l": null}, "abstract": "Loss of Y chromosome (LOY) and clonal hematopoiesis of indeterminate potential (CHIP) are common age-related events with implications for aging and Alzheimer disease (AD). LOY is linked to increased AD risk, whereas CHIP may be protective, and their co-occurrence remains unclear. We conducted whole-exome sequencing of CD4+ T cells, NK cells, and myeloid cells from AD patients and controls exhibiting LOY or retention of Y chromosome. We identified 39 variants in known myeloid and lymphoid driver genes, with up to 35% co-occurring with LOY in the same clone. In addition, we detected 192 unknown drivers of clonal hematopoiesis, enriched in AD-LOY individuals (odds ratio 4.8, P = 0.041). In myeloid cells, total driver burden correlated with LOY (\u03c1 = 0.52, P = 0.00041). These results indicate that LOY is a primary driver of clonal hematopoiesis in AD, seeding myeloid clones that accumulate unknown driver variants, whereas most canonical CHIP mutations arise independently. Our study reveals distinct, partially overlapping clonal architectures for LOY and CHIP and highlights LOY-driven myeloid expansion as a contributor to AD pathogenesis.", "doi": "10.26508/lsa.202503533", "pmid": "41371958", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12696397"}, {"db": "pii", "key": "9/2/e202503533"}, {"db": "Dataset DOI", "key": "https://ega-archive.org/ EGAS00001008234"}], "notes": [], "created": "2026-08-20T13:03:59.493Z", "modified": "2026-08-20T13:03:59.673Z"}, {"entity": "publication", "iuid": "a3c601bbf5d74e7f8eb79f9ef36a79d7", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a3c601bbf5d74e7f8eb79f9ef36a79d7.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a3c601bbf5d74e7f8eb79f9ef36a79d7"}}, "title": "Loss of Y chromosome in Alzheimer disease patients co-occurs with clonal hematopoiesis defined by post-zygotic point mutations outside canonical CHIP driver genes", "authors": [{"family": "Rychlicka-Buniowska", "given": "Edyta", "initials": "E", "orcid": "0000-0001-8050-2489", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d6d15c10afd4e9fb2b0a3f4488e0293.json"}}, {"family": "Sarkisyan", "given": "Daniil", "initials": "D", "orcid": "0000-0002-2451-4386", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a442a33fd38643c59ea730364d9ba8fd.json"}}, {"family": "Horbacz", "given": "Monika", "initials": "M", "orcid": "0000-0003-1644-2957", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ebc9e942f42f447ea2e53323b168b892.json"}}, {"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Dr\u0119\u017cek-Chy\u0142a", "given": "Kinga", "initials": "K"}, {"family": "Koszy\u0144ski", "given": "Miko\u0142aj", "initials": "M"}, {"family": "Davies", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6289-3815", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/888e384e2507499bbff9971cfa5f2370.json"}}, {"family": "Juhas", "given": "Ulana", "initials": "U", "orcid": "0000-0001-8393-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b60a9482cdc4494aaed35243e04fbc42.json"}}, {"family": "W\u00f3jcik-Zalewska", "given": "Magdalena", "initials": "M"}, {"family": "Klich-R\u0105czka", "given": "Alicja", "initials": "A"}, {"family": "Kilander", "given": "Lena", "initials": "L"}, {"family": "Ingelsson", "given": "Martin", "initials": "M"}, {"family": "Bukowska-Strakova", "given": "Karolina", "initials": "K", "orcid": "0000-0001-9181-439X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b51ac8fa49c64b9eb451c3eea6ca9420.json"}}, {"family": "W\u0119glarczyk", "given": "Kazimierz", "initials": "K", "orcid": "0000-0001-5255-5436", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1728ac70db484e2da0b8d5ca776ecadf.json"}}, {"family": "Siedlar", "given": "Maciej", "initials": "M", "orcid": "0000-0002-3904-5412", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e4e3fe27b0244d56b31c564e6cc85ccc.json"}}, {"family": "Baran", "given": "Jaros\u0142aw", "initials": "J", "orcid": "0000-0003-1787-1972", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e2b438855cd94e93b9051b10f1023b06.json"}}, {"family": "Ry\u015b", "given": "Janusz", "initials": "J"}, {"family": "Piotrowski", "given": "Arkadiusz", "initials": "A"}, {"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/64588db686e244778a885aebaa19c2c2.json"}}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}], "type": "posted-content", "published": "2025-06-06", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2025.06.05.25329040", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T11:06:02.678Z", "modified": "2026-08-20T11:06:02.918Z"}, {"entity": "publication", "iuid": "e72adb12c3174136afdfb3c7f18c797a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e72adb12c3174136afdfb3c7f18c797a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e72adb12c3174136afdfb3c7f18c797a"}}, "title": "Beyond Tumors: Reduced survival linked to pathogenic PIK3CA and TP53 post-zygotic variants in the uninvolved breast tissue of recurrent cancer patients", "authors": [{"family": "Andreou", "given": "Maria", "initials": "M", "orcid": "0000-0002-2197-597X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a049e2ddeb954bdba0767cd9e757d8ee.json"}}, {"family": "Chojnowska", "given": "Katarzyna", "initials": "K", "orcid": "0000-0002-5571-6618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/62c056bcb8d64949b3cae6753ceee075.json"}}, {"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/64588db686e244778a885aebaa19c2c2.json"}}, {"family": "Horbacz", "given": "Monika", "initials": "M", "orcid": "0000-0003-1644-2957", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ebc9e942f42f447ea2e53323b168b892.json"}}, {"family": "Madanecki", "given": "Piotr", "initials": "P"}, {"family": "Duzowska", "given": "Katarzyna", "initials": "K"}, {"family": "Lawrynowicz", "given": "Urszula", "initials": "U", "orcid": "0000-0001-6272-5603", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b81a86d909cb426882b5db05b52c09e6.json"}}, {"family": "Davies", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6289-3815", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/888e384e2507499bbff9971cfa5f2370.json"}}, {"family": "Bruhn-Olszewska", "given": "Bozena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Koszynski", "given": "Mikolaj", "initials": "M"}, {"family": "Drezek-Chyla", "given": "Kinga", "initials": "K"}, {"family": "Jaskiewicz", "given": "Maciej", "initials": "M"}, {"family": "Jakalski", "given": "Marcin", "initials": "M", "orcid": "0000-0002-5481-9148", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e56aebb0edf0484398c3a929ff862b9d.json"}}, {"family": "Kostecka", "given": "Anna", "initials": "A", "orcid": "0000-0001-5705-0795", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/155382b49119451eac0270139acfd2aa.json"}}, {"family": "Drzewiecka", "given": "Marta", "initials": "M"}, {"family": "Nowikiewicz", "given": "Magdalena", "initials": "M"}, {"family": "Las-Jankowska", "given": "Manuela", "initials": "M"}, {"family": "Bala", "given": "Dariusz", "initials": "D"}, {"family": "Hoffman", "given": "Jacek", "initials": "J"}, {"family": "Srutek", "given": "Ewa", "initials": "E"}, {"family": "Szylberg", "given": "Lukasz", "initials": "L"}, {"family": "Jankowski", "given": "Michal", "initials": "M"}, {"family": "Jankau", "given": "Jerzy", "initials": "J"}, {"family": "Hodorowicz-Zaniewska", "given": "Diana", "initials": "D"}, {"family": "Szpor", "given": "Joanna", "initials": "J"}, {"family": "Zegarski", "given": "Wojciech", "initials": "W"}, {"family": "Nowikiewicz", "given": "Tomasz", "initials": "T"}, {"family": "Buckley", "given": "Patrick G", "initials": "PG"}, {"family": "Tiemann-Boege", "given": "Irene", "initials": "I"}, {"family": "Mieczkowski", "given": "Jakub", "initials": "J", "orcid": "0000-0002-2091-012X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b1f3a661ef734ec6bbe55e6969eedc80.json"}}, {"family": "Koczkowska", "given": "Madgalena", "initials": "M"}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}, {"family": "Piotrowski", "given": "Arkadiusz", "initials": "A", "orcid": "0000-0002-0823-0607", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e64d7b68df2421f9456085fa4a41467.json"}}], "type": "posted-content", "published": "2024-10-04", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2024.10.04.24313634", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:58:46.033Z", "modified": "2026-08-20T10:58:46.148Z"}, {"entity": "publication", "iuid": "07f1c55f389c463eb7b3a6677defec22", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/07f1c55f389c463eb7b3a6677defec22.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/07f1c55f389c463eb7b3a6677defec22"}}, "title": "DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimer\u2019s disease", "authors": [{"family": "J\u0105kalski", "given": "Marcin", "initials": "M", "orcid": "0000-0002-5481-9148", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e56aebb0edf0484398c3a929ff862b9d.json"}}, {"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Rychlicka-Buniowska", "given": "Edyta", "initials": "E", "orcid": "0000-0001-8050-2489", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d6d15c10afd4e9fb2b0a3f4488e0293.json"}}, {"family": "Davies", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6289-3815", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/888e384e2507499bbff9971cfa5f2370.json"}}, {"family": "Sarkisyan", "given": "Daniil", "initials": "D", "orcid": "0000-0002-2451-4386", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a442a33fd38643c59ea730364d9ba8fd.json"}}, {"family": "Siedlar", "given": "Maciej", "initials": "M"}, {"family": "Baran", "given": "Jaros\u0142aw", "initials": "J"}, {"family": "W\u0119glarczyk", "given": "Kazimierz", "initials": "K"}, {"family": "Jaszczynski", "given": "Janusz", "initials": "J"}, {"family": "Ry\u015b", "given": "Janusz", "initials": "J"}, {"family": "Gedraitis", "given": "Vilmantas", "initials": "V"}, {"family": "Filipowicz", "given": "Natalia", "initials": "N"}, {"family": "Klich-R\u0105czka", "given": "Alicja", "initials": "A"}, {"family": "Kilander", "given": "Lena", "initials": "L"}, {"family": "Ingelsson", "given": "Martin", "initials": "M"}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}], "type": "posted-content", "published": "2024-08-20", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2024.08.19.24312211", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:56:07.988Z", "modified": "2026-08-20T10:56:08.053Z"}, {"entity": "publication", "iuid": "a8ffb32cf7e34413952539e2e209dc79", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a8ffb32cf7e34413952539e2e209dc79.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a8ffb32cf7e34413952539e2e209dc79"}}, "title": "Prelude to Malignancy: A Gene Expression Signature in Normal Mammary Gland from Breast Cancer Patients Suggests Pre-tumorous Alterations and Is Associated with Adverse Outcomes", "authors": [{"family": "Andreou", "given": "Maria", "initials": "M", "orcid": "0000-0002-2197-597X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a049e2ddeb954bdba0767cd9e757d8ee.json"}}, {"family": "J\u0105kalski", "given": "Marcin", "initials": "M", "orcid": "0000-0002-5481-9148", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e56aebb0edf0484398c3a929ff862b9d.json"}}, {"family": "Duzowska", "given": "Katarzyna", "initials": "K"}, {"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/64588db686e244778a885aebaa19c2c2.json"}}, {"family": "Kostecka", "given": "Anna", "initials": "A", "orcid": "0000-0001-5705-0795", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/155382b49119451eac0270139acfd2aa.json"}}, {"family": "Davies", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6289-3815", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/888e384e2507499bbff9971cfa5f2370.json"}}, {"family": "Horbacz", "given": "Monika", "initials": "M", "orcid": "0000-0003-1644-2957", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ebc9e942f42f447ea2e53323b168b892.json"}}, {"family": "\u0141awrynowicz", "given": "Urszula", "initials": "U", "orcid": "0000-0001-6272-5603", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b81a86d909cb426882b5db05b52c09e6.json"}}, {"family": "Chojnowska", "given": "Katarzyna", "initials": "K", "orcid": "0000-0002-5571-6618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/62c056bcb8d64949b3cae6753ceee075.json"}}, {"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Jankau", "given": "Jerzy", "initials": "J"}, {"family": "\u015arutek", "given": "Ewa", "initials": "E"}, {"family": "Las-Jankowska", "given": "Manuela", "initials": "M"}, {"family": "Ba\u0142a", "given": "Dariusz", "initials": "D"}, {"family": "Hoffman", "given": "Jacek", "initials": "J"}, {"family": "Hartman", "given": "Johan", "initials": "J"}, {"family": "P\u0119ksa", "given": "Rafa\u0142", "initials": "R"}, {"family": "Skokowski", "given": "Jaros\u0142aw", "initials": "J"}, {"family": "Jankowski", "given": "Micha\u0142", "initials": "M"}, {"family": "Szylberg", "given": "\u0141ukasz", "initials": "\u0141"}, {"family": "Zegarski", "given": "Wojciech", "initials": "W"}, {"family": "Nowikiewicz", "given": "Magdalena", "initials": "M"}, {"family": "Nowikiewicz", "given": "Tomasz", "initials": "T"}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}, {"family": "Mieczkowski", "given": "Jakub", "initials": "J", "orcid": "0000-0002-2091-012X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b1f3a661ef734ec6bbe55e6969eedc80.json"}}, {"family": "Piotrowski", "given": "Arkadiusz", "initials": "A", "orcid": "0000-0002-0823-0607", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e64d7b68df2421f9456085fa4a41467.json"}}], "type": "posted-content", "published": "2024-02-08", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2024.02.07.579074", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:52:08.806Z", "modified": "2026-08-20T10:52:08.997Z"}, {"entity": "publication", "iuid": "1b761a4d4b6845d6b609d0e75cca24b2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1b761a4d4b6845d6b609d0e75cca24b2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1b761a4d4b6845d6b609d0e75cca24b2"}}, "title": "Mosaic Loss of Chromosome Y Is Associated With Functional Outcome After Ischemic Stroke.", "authors": [{"family": "Dorvall", "given": "Malin", "initials": "M", "orcid": "0009-0009-4646-5130", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2253a1b924824eecb569cf18009c1209.json"}}, {"family": "Pedersen", "given": "Annie", "initials": "A", "orcid": "0000-0002-7498-7755", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5c199d2cd784497db2a0905a09219fe8.json"}}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}, {"family": "S\u00f6derholm", "given": "Martin", "initials": "M", "orcid": "0009-0001-3129-9581", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/842e23f3db7b43b8aeb13aba9d206beb.json"}}, {"family": "Lindgren", "given": "Arne G", "initials": "AG", "orcid": "0000-0003-1942-7330", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6cf937a237e64a5692e606e9413ec804.json"}}, {"family": "Stanne", "given": "Tara M", "initials": "TM", "orcid": "0000-0001-9668-0407", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f817e4b4903047a8a791be06a6c65e75.json"}}, {"family": "Jern", "given": "Christina", "initials": "C", "orcid": "0000-0002-7531-2354", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3942daa2a2f94db7b687382518071320.json"}}], "type": "journal article", "published": "2023-09-00", "journal": {"title": "Stroke", "issn": "1524-4628", "volume": "54", "issue": "9", "pages": "2434-2437", "issn-l": "0039-2499"}, "abstract": "Mosaic loss of chromosome Y (LOY) is associated with cardiovascular and neurodegenerative diseases in men, and genetic predisposition to LOY is associated with poor poststroke outcome. We, therefore, tested the hypothesis that LOY itself is associated with functional outcome after ischemic stroke.\n\nThe study comprised male patients with ischemic stroke from the cohort studies SAHLSIS2 (Sahlgrenska Academy Study on Ischemic Stroke Phase 2; n=588) and LSR (Lund Stroke Register; n=735). We used binary logistic regression to analyze associations between LOY, determined by DNA microarray intensity data, and poor 3-month functional outcome (modified Rankin Scale score, >2) in each cohort separately and combined. Patients who received recanalization therapy were excluded from sensitivity analyses.\n\nLOY was associated with about 2.5-fold increased risk of poor outcome in univariable analyses (P<0.001). This association withstood separate adjustment for stroke severity and diabetes in both cohorts but not age. In sensitivity analyses restricted to the nonrecanalization group (n=987 in the combined cohort), the association was significant also after separate adjustment for age (odds ratio, 1.6 [95% CI, 1.1-2.4]) and when additionally adjusting for stroke severity and diabetes (odds ratio, 1.6 [95% CI, 1.1-2.5]).\n\nWe observed an association between LOY and poor outcome after ischemic stroke in patients not receiving recanalization therapy. Future studies on LOY and other somatic genetic alterations in larger stroke cohorts are warranted.", "doi": "10.1161/STROKEAHA.123.043551", "pmid": "37465995", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1915501"}, {"db": "pmc", "key": "PMC10453343"}], "notes": [], "created": "2026-08-20T12:16:21.618Z", "modified": "2026-08-20T12:16:21.883Z"}, {"entity": "publication", "iuid": "b337514cf8d343d1b5543e030bf28efb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b337514cf8d343d1b5543e030bf28efb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b337514cf8d343d1b5543e030bf28efb"}}, "title": "Loss of Y in regulatory T lymphocytes in the tumor micro-environment of primary colorectal cancers and liver metastases", "authors": [{"family": "W\u00f3jcik", "given": "Magdalena", "initials": "M", "orcid": "0000-0001-5475-8448", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6d86767e0cd24959b141c46b72052a89.json"}}, {"family": "Juhas", "given": "Ulana", "initials": "U", "orcid": "0000-0001-8393-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b60a9482cdc4494aaed35243e04fbc42.json"}}, {"family": "Mohammadi", "given": "Elyas", "initials": "E", "orcid": "0000-0002-3352-2572", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e61ec5ae19ac4229b370d7d1328702ed.json"}}, {"family": "Mattisson", "given": "Jonas", "initials": "J", "orcid": "0000-0002-4456-9667", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/55ab3f88462844d9884e8787bd46236a.json"}}, {"family": "Dr\u0119\u017cek-Chy\u0142a", "given": "Kinga", "initials": "K"}, {"family": "Rychlicka-Buniowska", "given": "Edyta", "initials": "E", "orcid": "0000-0001-8050-2489", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d6d15c10afd4e9fb2b0a3f4488e0293.json"}}, {"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Davies", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6289-3815", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/888e384e2507499bbff9971cfa5f2370.json"}}, {"family": "Chojnowska", "given": "Katarzyna", "initials": "K", "orcid": "0000-0002-5571-6618", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/62c056bcb8d64949b3cae6753ceee075.json"}}, {"family": "Olszewski", "given": "Pawe\u0142", "initials": "P", "orcid": "0000-0002-2788-5254", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f34db06bf7ea4a698e4227ae6c9ecf80.json"}}, {"family": "Bie\u0144kowski", "given": "Micha\u0142", "initials": "M"}, {"family": "Jankowski", "given": "Micha\u0142", "initials": "M"}, {"family": "Rostkowska", "given": "Olga", "initials": "O"}, {"family": "Hellmann", "given": "Andrzej", "initials": "A"}, {"family": "P\u0119ksa", "given": "Rafa\u0142", "initials": "R"}, {"family": "Kowalski", "given": "Jacek", "initials": "J"}, {"family": "Zdrenka", "given": "Marek", "initials": "M"}, {"family": "Kobiela", "given": "Jarek", "initials": "J"}, {"family": "Zegarski", "given": "Wojciech", "initials": "W"}, {"family": "Biernat", "given": "Wojciech", "initials": "W"}, {"family": "Szylberg", "given": "\u0141ukasz", "initials": "\u0141"}, {"family": "Remiszewski", "given": "Piotr", "initials": "P"}, {"family": "Mieczkowski", "given": "Jakub", "initials": "J", "orcid": "0000-0002-2091-012X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b1f3a661ef734ec6bbe55e6969eedc80.json"}}, {"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/64588db686e244778a885aebaa19c2c2.json"}}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}], "type": "posted-content", "published": "2023-06-22", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.06.17.23289722", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:46:50.936Z", "modified": "2026-08-20T10:46:51.154Z"}, {"entity": "publication", "iuid": "043b41766ab54222a234373600f098a8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/043b41766ab54222a234373600f098a8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/043b41766ab54222a234373600f098a8"}}, "title": "Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition.", "authors": [{"family": "Filipowicz", "given": "Natalia", "initials": "N", "orcid": "0000-0002-9673-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/64588db686e244778a885aebaa19c2c2.json"}}, {"family": "Dr\u0119\u017cek", "given": "Kinga", "initials": "K"}, {"family": "Horbacz", "given": "Monika", "initials": "M"}, {"family": "Wojdak", "given": "Agata", "initials": "A"}, {"family": "Szymanowski", "given": "Jakub", "initials": "J"}, {"family": "Rychlicka-Buniowska", "given": "Edyta", "initials": "E"}, {"family": "Juhas", "given": "Ulana", "initials": "U"}, {"family": "Duzowska", "given": "Katarzyna", "initials": "K"}, {"family": "Nowikiewicz", "given": "Tomasz", "initials": "T"}, {"family": "Sta\u0144kowska", "given": "Wiktoria", "initials": "W"}, {"family": "Chojnowska", "given": "Katarzyna", "initials": "K"}, {"family": "Andreou", "given": "Maria", "initials": "M", "orcid": "0000-0002-2197-597X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a049e2ddeb954bdba0767cd9e757d8ee.json"}}, {"family": "\u0141awrynowicz", "given": "Urszula", "initials": "U"}, {"family": "W\u00f3jcik", "given": "Magdalena", "initials": "M"}, {"family": "Davies", "given": "Hanna", "initials": "H"}, {"family": "\u015arutek", "given": "Ewa", "initials": "E"}, {"family": "Bie\u0144kowski", "given": "Micha\u0142", "initials": "M"}, {"family": "Milian-Ciesielska", "given": "Katarzyna", "initials": "K"}, {"family": "Zdrenka", "given": "Marek", "initials": "M"}, {"family": "Ambicka", "given": "Aleksandra", "initials": "A"}, {"family": "Przewo\u017anik", "given": "Marcin", "initials": "M"}, {"family": "Harazin-Lechowska", "given": "Agnieszka", "initials": "A"}, {"family": "Adamczyk", "given": "Agnieszka", "initials": "A"}, {"family": "Kowalski", "given": "Jacek", "initials": "J"}, {"family": "Ba\u0142a", "given": "Dariusz", "initials": "D"}, {"family": "Wi\u015bniewski", "given": "Dorian", "initials": "D"}, {"family": "Tkaczy\u0144ski", "given": "Karol", "initials": "K"}, {"family": "Kamecki", "given": "Krzysztof", "initials": "K"}, {"family": "Drzewiecka", "given": "Marta", "initials": "M"}, {"family": "Wro\u0144ski", "given": "Pawe\u0142", "initials": "P"}, {"family": "Siekiera", "given": "Jerzy", "initials": "J"}, {"family": "Ratnicka", "given": "Izabela", "initials": "I", "orcid": "0000-0001-6039-5196", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ff1123e211b74fd48bd8641dbaa28814.json"}}, {"family": "Jankau", "given": "Jerzy", "initials": "J"}, {"family": "Wierzba", "given": "Karol", "initials": "K", "orcid": "0000-0003-1257-4047", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/49ab57f2616a46ac8075d3c3f5920142.json"}}, {"family": "Skokowski", "given": "Jaros\u0142aw", "initials": "J"}, {"family": "Po\u0142om", "given": "Karol", "initials": "K"}, {"family": "Przydacz", "given": "Miko\u0142aj", "initials": "M"}, {"family": "Be\u0142ch", "given": "\u0141ukasz", "initials": "\u0141"}, {"family": "Ch\u0142osta", "given": "Piotr", "initials": "P"}, {"family": "Matuszewski", "given": "Marcin", "initials": "M"}, {"family": "Oko\u0144", "given": "Krzysztof", "initials": "K"}, {"family": "Rostkowska", "given": "Olga", "initials": "O"}, {"family": "Hellmann", "given": "Andrzej", "initials": "A"}, {"family": "Sasim", "given": "Karol", "initials": "K"}, {"family": "Remiszewski", "given": "Piotr", "initials": "P", "orcid": "0000-0002-4910-0198", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6435677ff3944de3a4f69df2af8c8308.json"}}, {"family": "Sier\u017c\u0119ga", "given": "Marek", "initials": "M"}, {"family": "Ha\u0107", "given": "Stanis\u0142aw", "initials": "S"}, {"family": "Kobiela", "given": "Jaros\u0142aw", "initials": "J"}, {"family": "Kaska", "given": "\u0141ukasz", "initials": "\u0141"}, {"family": "Jankowski", "given": "Micha\u0142", "initials": "M", "orcid": "0000-0001-9982-842X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/473b95b9587242ca8af4f1f9a2f38781.json"}}, {"family": "Hodorowicz-Zaniewska", "given": "Diana", "initials": "D"}, {"family": "Jaszczy\u0144ski", "given": "Janusz", "initials": "J"}, {"family": "Zegarski", "given": "Wojciech", "initials": "W"}, {"family": "Makarewicz", "given": "Wojciech", "initials": "W"}, {"family": "P\u0119ksa", "given": "Rafa\u0142", "initials": "R"}, {"family": "Szpor", "given": "Joanna", "initials": "J"}, {"family": "Ry\u015b", "given": "Janusz", "initials": "J"}, {"family": "Szylberg", "given": "\u0141ukasz", "initials": "\u0141"}, {"family": "Piotrowski", "given": "Arkadiusz", "initials": "A"}, {"family": "Dumanski", "given": "Jan P", "initials": "JP", "orcid": "0000-0002-1489-1452", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9bc35062e3496785fe8ea665861ed2.json"}}], "type": "journal article", "published": "2022-04-07", "journal": {"title": "PLoS ONE", "issn": "1932-6203", "volume": "17", "issue": "4", "pages": "e0266111", "issn-l": "1932-6203"}, "abstract": "The progress in translational cancer research relies on access to well-characterized samples from a representative number of patients and controls. The rationale behind our biobanking are explorations of post-zygotic pathogenic gene variants, especially in non-tumoral tissue, which might predispose to cancers. The targeted diagnoses are carcinomas of the breast (via mastectomy or breast conserving surgery), colon and rectum, prostate, and urinary bladder (via cystectomy or transurethral resection), exocrine pancreatic carcinoma as well as metastases of colorectal cancer to the liver. The choice was based on the high incidence of these cancers and/or frequent fatal outcome. We also collect age-matched normal controls. Our still ongoing collection originates from five clinical centers and after nearly 2-year cooperation reached 1711 patients and controls, yielding a total of 23226 independent samples, with an average of 74 donors and 1010 samples collected per month. The predominant diagnosis is breast carcinoma, with 933 donors, followed by colorectal carcinoma (383 donors), prostate carcinoma (221 donors), bladder carcinoma (81 donors), exocrine pancreatic carcinoma (15 donors) and metachronous colorectal cancer metastases to liver (14 donors). Forty percent of the total sample count originates from macroscopically healthy cancer-neighboring tissue, while contribution from tumors is 12%, which adds to the uniqueness of our collection for cancer predisposition studies. Moreover, we developed two program packages, enabling registration of patients, clinical data and samples at the participating hospitals as well as the central system of sample/data management at coordinating center. The approach used by us may serve as a model for dispersed biobanking from multiple satellite hospitals. Our biobanking resource ought to stimulate research into genetic mechanisms underlying the development of common cancers. It will allow all available \"-omics\" approaches on DNA-, RNA-, protein- and tissue levels to be applied. The collected samples can be made available to other research groups.", "doi": "10.1371/journal.pone.0266111", "pmid": "35390022", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8989288"}, {"db": "pii", "key": "PONE-D-21-28020"}], "notes": [], "created": "2026-08-20T12:44:15.068Z", "modified": "2026-08-20T12:44:15.286Z"}, {"entity": "publication", "iuid": "e04ea176416641e8b843478f4c6082e0", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e04ea176416641e8b843478f4c6082e0.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e04ea176416641e8b843478f4c6082e0"}}, "title": "Loss of Y in leukocytes as a risk factor for critical COVID-19 in men", "authors": [{"family": "Bruhn-Olszewska", "given": "Bo\u017cena", "initials": "B", "orcid": "0000-0003-2141-0247", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54cc533c598a45b69b437489a3e82a6a.json"}}, {"family": "Davies", "given": "Hanna", 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