{"entity": "researcher", "timestamp": "2026-08-14T12:06:04.534Z", "family": "Nord", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6098-0237", "affiliations": ["Department of Medical and Translational Biology, Ume\u00e5 University, Ume\u00e5, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/22d8cc445c6b41b4a8488d620995d8c3.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/22d8cc445c6b41b4a8488d620995d8c3"}}, "publications": [{"entity": "publication", "iuid": "72f3950c5f524c7085d950d0a69ea825", "links": {"self": {"href": "https://publications.scilifelab.se/publication/72f3950c5f524c7085d950d0a69ea825.json"}, "display": {"href": "https://publications.scilifelab.se/publication/72f3950c5f524c7085d950d0a69ea825"}}, "title": "Single cell sequencing reveals shared clonal signatures in non-malignant B- and tumor cells in T-prolymphocytic leukemia", "authors": [{"family": "Hesselager", "given": "Caroline", "initials": "C"}, {"family": "Th\u00f6rn", "given": "Ingrid", "initials": "I"}, {"family": "Marincevic", "given": "Millaray", "initials": "M"}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c5c362dc308476195eb55d2e588ba60.json"}}, {"family": "Alml\u00f6f", "given": "Jonas", "initials": "J", "orcid": "0000-0002-1211-9821", "researcher": {"href": "https://publications.scilifelab.se/researcher/046904cd12eb4764bd2dcadc876f65d7.json"}}, {"family": "L\u00f6fgren", "given": "Sara", "initials": "S", "orcid": "0000-0002-1680-7349", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fdb4e41eab84ead8f399965e24dfea5.json"}}, {"family": "Westr\u00f6m", "given": "Simone", "initials": "S"}, {"family": "Nord", "given": "Helena", "initials": "H", "orcid": "0000-0002-6098-0237", "researcher": {"href": "https://publications.scilifelab.se/researcher/22d8cc445c6b41b4a8488d620995d8c3.json"}}, {"family": "Sutton", "given": "Lesley Ann", "initials": "LA"}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f01226edb140436da0c9d166c1f5fe51.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications.scilifelab.se/researcher/17370bd509dc4b1081af5aed9e5117c7.json"}}, {"family": "Amini", "given": "Rose Marie", "initials": "RM", "orcid": "0000-0003-0901-5252", "researcher": {"href": "https://publications.scilifelab.se/researcher/c157abcd61fa4900b5ad502b408d6d95.json"}}], "type": "journal-article", "published": "2025-02-00", "journal": {"title": "Blood Neoplasia", "issn": "2950-3280", "pages": "100076", "issn-l": null}, "abstract": null, "doi": "10.1016/j.bneo.2025.100076", "pmid": null, "labels": {"Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [], "notes": [], "created": "2025-03-19T05:00:30.506Z", "modified": "2025-04-03T08:27:33.854Z"}, {"entity": "publication", "iuid": "94ab6b3617474bc092224f924b8f0d46", "links": {"self": {"href": "https://publications.scilifelab.se/publication/94ab6b3617474bc092224f924b8f0d46.json"}, "display": {"href": "https://publications.scilifelab.se/publication/94ab6b3617474bc092224f924b8f0d46"}}, "title": "The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high-grade transformation.", "authors": [{"family": "Backman", "given": "Samuel", "initials": "S"}, {"family": "Botling", "given": "Johan", "initials": "J"}, {"family": "Nord", "given": "Helena", "initials": "H", "orcid": "0000-0002-6098-0237", "researcher": {"href": "https://publications.scilifelab.se/researcher/22d8cc445c6b41b4a8488d620995d8c3.json"}}, {"family": "Ghosal", "given": "Suman", "initials": "S"}, {"family": "St\u00e5lberg", "given": "Peter", "initials": "P"}, {"family": "Juhlin", "given": "C Christofer", "initials": "CC", "orcid": "0000-0002-5945-9081", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb660e24421749d4acaaf6e9a90042f8.json"}}, {"family": "Alml\u00f6f", "given": "Jonas", "initials": "J", "orcid": "0000-0002-1211-9821", "researcher": {"href": "https://publications.scilifelab.se/researcher/046904cd12eb4764bd2dcadc876f65d7.json"}}, {"family": "Sundin", "given": "Anders", "initials": "A", "orcid": "0000-0001-6615-2419", "researcher": {"href": "https://publications.scilifelab.se/researcher/b03a78e59f0845c5b68b372f2709dbf0.json"}}, {"family": "Zhang", "given": "Liang", "initials": "L"}, {"family": "Moens", "given": "Lotte", "initials": "L", "orcid": "0000-0002-5347-6526", "researcher": {"href": "https://publications.scilifelab.se/researcher/577b0c2d09e349d89ef8ae73efd8c5f7.json"}}, {"family": "Eriksson", "given": "Barbro", "initials": "B"}, {"family": "Welin", "given": "Staffan", "initials": "S"}, {"family": "Hellman", "given": "Per", "initials": "P"}, {"family": "Skogseid", "given": "Britt", "initials": "B"}, {"family": "Pacak", "given": "Karel", "initials": "K"}, {"family": "Mollazadegan", "given": "Kazhan", "initials": "K"}, {"family": "\u00c5kerstr\u00f6m", "given": "Tobias", "initials": "T"}, {"family": "Crona", "given": "Joakim", "initials": "J", "orcid": "0000-0003-0677-4894", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c601868a0c14b13a01b2868a4fb690e.json"}}], "type": "journal article", "published": "2024-12-00", "journal": {"title": "J. Pathol.", "issn": "1096-9896", "volume": "264", "issue": "4", "pages": "357-370", "issn-l": "0022-3417"}, "abstract": "Tumour evolution with acquisition of more aggressive disease characteristics is a hallmark of disseminated cancer. Metastatic pancreatic neuroendocrine tumours (PanNETs) in particular may progress from a low/intermediate to a high-grade disease. The aim of this work was to understand the molecular mechanisms underlying metastatic progression as well as PanNET transformation from a low/intermediate to a high-grade disease. We performed multi-omics analysis (genome/exome sequencing, total RNA-sequencing and methylation array) of 32 longitudinal samples from six patients with metastatic low/intermediate grade PanNET. The clonal composition of tumour lesions and underlying phylogeny of each patient were determined with bioinformatics analyses. Findings were validated in post-alkylating chemotherapy samples from 24 patients with PanNET using targeted next generation sequencing. We validate the current PanNET evolutionary model with MEN1 inactivation that occurs very early in tumourigenesis. This was followed by pronounced genetic diversity on both spatial and temporal levels, with parallel and convergent tumour evolution involving the ATRX/DAXX and mechanistic target of the rapamycin (mTOR) pathways. Following alkylating chemotherapy treatment, some PanNETs developed mismatch repair deficiency and acquired a hypermutational phenotype. This was validated among 16 patients with PanNET who had high-grade progression after alkylating chemotherapy, of whom eight had a tumour mutational burden >50 (50%). In comparison, among the eight patients who did not show high-grade progression, 0 had a tumour mutational burden >50 (0%; odds ratio 'infinite', 95% confidence interval 1.8 to 'infinite', p = 0.02). Our findings contribute to broaden the understanding of metastatic/high-grade PanNETs and suggests that therapy driven disease evolution is an important hallmark of this disease. \u00a9 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.", "doi": "10.1002/path.6348", "pmid": "39360347", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Short read": "Service", "Clinical Genomics Uppsala": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Collaborative"}, "xrefs": [], "notes": [], "created": "2024-11-12T11:41:11.475Z", "modified": "2025-04-07T07:28:57.040Z"}, {"entity": "publication", "iuid": "cf7ea31e683f4c45835678b143349f84", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cf7ea31e683f4c45835678b143349f84.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cf7ea31e683f4c45835678b143349f84"}}, "title": "fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles.", "authors": [{"family": "Dennhag", "given": "Nils", "initials": "N", "orcid": "0000-0003-0885-6586", "researcher": {"href": "https://publications.scilifelab.se/researcher/cf9ac3fa9a504dcb877d144438ed5161.json"}}, {"family": "Kahsay", "given": "Abraha", "initials": "A", "orcid": "0000-0003-1518-9785", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b2b788339fd463fa1a2c777bcf87948.json"}}, {"family": "Nissen", "given": "Itzel", "initials": "I", "orcid": "0000-0002-0741-5730", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4f02fa8059145bc9b17d0c1ef978ee2.json"}}, {"family": "Nord", "given": "Hanna", "initials": "H", "orcid": "0000-0002-6098-0237", "researcher": {"href": "https://publications.scilifelab.se/researcher/22d8cc445c6b41b4a8488d620995d8c3.json"}}, {"family": "Chermenina", "given": "Maria", "initials": "M"}, {"family": "Liu", "given": "Jiao", "initials": "J"}, {"family": "Arner", "given": "Anders", "initials": "A"}, {"family": "Liu", "given": "Jing-Xia", "initials": "JX", "orcid": "0000-0003-2508-9921", "researcher": {"href": "https://publications.scilifelab.se/researcher/353db8f1d54e4d0ca55b64ef7b0249d7.json"}}, {"family": "Backman", "given": "Ludvig J", "initials": "LJ"}, {"family": "Remeseiro", "given": "Silvia", "initials": "S", "orcid": "0000-0001-5343-007X", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb0bc2da415e4c6aafc3f55fba80a12b.json"}}, {"family": "von Hofsten", "given": "Jonas", "initials": "J", "orcid": "0000-0003-3730-1790", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee9e4dc7b9a44b818e4c10aea633a934.json"}}, {"family": "Pedrosa Domell\u00f6f", "given": "Fatima", "initials": "F", "orcid": "0000-0002-0648-4996", "researcher": {"href": "https://publications.scilifelab.se/researcher/30143e3ec79a4f16b82495ce9e453750.json"}}], "type": "journal article", "published": "2024-03-02", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "15", "issue": "1", "pages": "1950", "issn-l": "2041-1723"}, "abstract": "In muscular dystrophies, muscle fibers loose integrity and die, causing significant suffering and premature death. Strikingly, the extraocular muscles (EOMs) are spared, functioning well despite the disease progression. Although EOMs have been shown to differ from body musculature, the mechanisms underlying this inherent resistance to muscle dystrophies remain unknown. Here, we demonstrate important differences in gene expression as a response to muscle dystrophies between the EOMs and trunk muscles in zebrafish via transcriptomic profiling. We show that the LIM-protein Fhl2 is increased in response to the knockout of desmin, plectin and obscurin, cytoskeletal proteins whose knockout causes different muscle dystrophies, and contributes to disease protection of the EOMs. Moreover, we show that ectopic expression of fhl2b can partially rescue the muscle phenotype in the zebrafish Duchenne muscular dystrophy model sapje, significantly improving their survival. Therefore, Fhl2 is a protective agent and a candidate target gene for therapy of muscular dystrophies.", "doi": "10.1038/s41467-024-46187-x", "pmid": "38431640", "labels": {"NGI Short read": "Service", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10908798"}, {"db": "pii", "key": "10.1038/s41467-024-46187-x"}], "notes": [], "created": "2024-03-14T11:06:34.815Z", "modified": "2024-11-25T10:16:22.287Z"}]}