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"Mikk", "initials": "M"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}], "type": "journal article", "published": "2024-11-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "56", "issue": "11", "pages": "2287-2294", "issn-l": "1061-4036"}, "abstract": "The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.", "doi": "10.1038/s41588-024-01941-1", "pmid": "39433890", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "National Genomics Infrastructure": "Service", "Clinical Genomics Gothenburg": "Service", "NGI Uppsala (Uppsala Genome Center)": "Service", "NGI Long read": "Service", "Clinical Genomics Stockholm": "Service", "Clinical Genomics Uppsala": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2083970"}, {"db": "pmc", "key": "PMC12198426"}, {"db": "pii", "key": "10.1038/s41588-024-01941-1"}], "notes": [], "created": "2024-10-22T07:24:36.866Z", "modified": "2025-11-20T20:34:52.025Z"}, {"entity": "publication", "iuid": "3338a6f2c5b143219504dff0b95a9424", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3338a6f2c5b143219504dff0b95a9424.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3338a6f2c5b143219504dff0b95a9424"}}, "title": "Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.", "authors": [{"family": "Wang", "given": "Sailan", "initials": "S", "orcid": "0000-0002-1269-0649", "researcher": {"href": "https://publications.scilifelab.se/researcher/c0dc9eda6e3a4cc2a68abf0e6d47f9f9.json"}}, {"family": "Nikamo", "given": "Pernilla", "initials": "P"}, {"family": "Laasonen", "given": "Leena", "initials": "L"}, {"family": "Gudbjornsson", "given": "Bjorn", "initials": "B", "orcid": "0000-0003-4631-6505", "researcher": {"href": "https://publications.scilifelab.se/researcher/0fb0b2ab4bd24099966d487f6f299303.json"}}, {"family": "Ejstrup", "given": "Leif", "initials": "L"}, {"family": "Iversen", "given": "Lars", "initials": "L", "orcid": "0000-0003-1816-4508", "researcher": {"href": "https://publications.scilifelab.se/researcher/ed66867f11dd4dffb67e3f32e37d1ec8.json"}}, {"family": "Lindqvist", "given": "Ulla", "initials": "U"}, {"family": "Alm", "given": "Jessica J", "initials": "JJ", "orcid": "0000-0002-2066-9073", "researcher": {"href": "https://publications.scilifelab.se/researcher/9800995eec454011a4ec3b682789eca0.json"}}, {"family": "Eisfeldt", "given": "Jesper", "initials": "J"}, {"family": "Zheng", "given": "Xiaowei", "initials": "X"}, {"family": "Catrina", "given": "Sergiu-Bogdan", "initials": "SB", "orcid": "0000-0002-6914-3902", "researcher": {"href": "https://publications.scilifelab.se/researcher/efbe5c0830144b63a644c0dcc6864e02.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Vaz", "given": "Raquel", "initials": "R"}, {"family": "St\u00e5hle", "given": "Mona", "initials": "M", "orcid": "0000-0002-3916-9343", "researcher": {"href": "https://publications.scilifelab.se/researcher/4efdec4c51bb4cfa8186086179a73254.json"}}, {"family": "Tapia-Paez", "given": "Isabel", "initials": "I", "orcid": "0000-0002-0535-4233", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ed50bc3a5034bafbff8ee63e129fb10.json"}}], "type": "journal article", "published": "2024-03-00", "journal": {"title": "EMBO Mol Med", "issn": "1757-4684", "issn-l": "1757-4676", "volume": "16", "issue": "3", "pages": "596-615"}, "abstract": "Psoriatic arthritis mutilans (PAM) is the rarest and most severe form of psoriatic arthritis, characterized by erosions of the small joints and osteolysis leading to joint disruption. Despite its severity, the underlying mechanisms are unknown, and no susceptibility genes have hitherto been identified. We aimed to investigate the genetic basis of PAM by performing massive parallel sequencing in sixty-one patients from the PAM Nordic cohort. We found rare variants in the NADPH oxidase 4 (NOX4) in four patients. In silico predictions show that the identified variants are potentially damaging. NOXs are the only enzymes producing reactive oxygen species (ROS). NOX4 is specifically involved in the differentiation of osteoclasts, the cells implicated in bone resorption. Functional follow-up studies using cell culture, zebrafish models, and measurement of ROS in patients uncovered that these NOX4 variants increase ROS levels both in vitro and in vivo. We propose NOX4 as the first candidate susceptibility gene for PAM. Our study links high levels of ROS caused by NOX4 variants to the development of PAM, offering a potential therapeutic target.", "doi": "10.1038/s44321-024-00035-z", "pmid": "38379095", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Production)": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10940640"}, {"db": "pii", "key": "10.1038/s44321-024-00035-z"}], "notes": [], "created": "2024-03-21T12:09:34.802Z", "modified": "2025-02-28T14:16:43.516Z"}]}