{"entity": "researcher", "timestamp": "2026-08-15T06:40:29.656Z", "family": "Sejersen", "given": "Thomas", "initials": "T", "orcid": "0000-0001-5961-7097", "affiliations": ["From the Department of Molecular Medicine and Surgery, Center for Molecular Medicine (C.M.G., G.T., F.T., A.S.N., A.N.), Unit of Epidemiology, Institute of Environmental Medicine (G.T.), and Department of Women's and Children's Health (T.S.), Karolinska Institutet; Department of Clinical Genetics and Genomics (F.T., A.N.), Department of Radiology (A.S.N.), and Department of Child Neurology, Astrid Lindgren Children's Hospital (T.S.), Karolinska University Hospital, Stockholm; Department of Clinical Genetics and Genomics (A.N.), Sahlgrenska University Hospital, Gothenburg; and Institute of Biomedicine, Department of Laboratory Medicine (A.N.), University of Gothenburg, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/ab13ad6b63424037addb7dd1afbda3b2.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/ab13ad6b63424037addb7dd1afbda3b2"}}, "publications": [{"entity": "publication", "iuid": "0b5724836e6f4770bb25d06ab0e11807", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0b5724836e6f4770bb25d06ab0e11807.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0b5724836e6f4770bb25d06ab0e11807"}}, "title": "Ribosome dynamics during skeletal muscle repair and regeneration in mice and humans", "authors": [{"family": "Cui", "given": "Minying", "initials": "M"}, {"family": "Edman", "given": "Sebastian", "initials": "S", "orcid": "0000-0003-2921-833X", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d00d020f7c84efa845fe368e7214130.json"}}, {"family": "Jude", "given": "Baptiste", "initials": "B", "orcid": "0000-0002-5506-2482", "researcher": {"href": "https://publications.scilifelab.se/researcher/60e0f4af135c4eff99a95ff1cac825bb.json"}}, {"family": "Jannig", "given": "Paulo R", "initials": "PR"}, {"family": "Horwath", "given": "Oscar", "initials": "O", "orcid": "0000-0002-3500-2896", "researcher": {"href": "https://publications.scilifelab.se/researcher/99970942c0114dd68a34a0524e6b5748.json"}}, {"family": "Shorter", "given": "Emily", "initials": "E"}, {"family": "Koopmans", "given": "Pieter J", "initials": "PJ", "orcid": "0000-0002-4797-5265", "researcher": {"href": "https://publications.scilifelab.se/researcher/b4f437cb611e4327a33133c3e415c6e8.json"}}, {"family": "Chambers", "given": "Toby L", "initials": "TL", "orcid": "0000-0001-7567-1819", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ece3fb9212d4e309858701afb620180.json"}}, {"family": "Jones", "given": "Ronald G", "initials": "RG"}, {"family": "Nilsson", "given": "Abraham", "initials": "A"}, {"family": "Lanner", "given": "Johanna T", "initials": "JT", "orcid": "0000-0002-1222-9473", "researcher": {"href": "https://publications.scilifelab.se/researcher/d502479c111b4bec884fd275c2ce6384.json"}}, {"family": "Sejersen", "given": "Thomas", "initials": "T", "orcid": "0000-0001-5961-7097", "researcher": {"href": "https://publications.scilifelab.se/researcher/ab13ad6b63424037addb7dd1afbda3b2.json"}}, {"family": "Pont\u00e9n", "given": "Eva", "initials": "E", "orcid": "0000-0001-5228-1914", "researcher": {"href": "https://publications.scilifelab.se/researcher/d9bf1a45788a4e34be6734ce15d9de5d.json"}}, {"family": "Murach", "given": "Kevin A", "initials": "KA", "orcid": "0000-0003-2783-7137", "researcher": {"href": "https://publications.scilifelab.se/researcher/76f498f06fa0451e97123a8d5a333820.json"}}, {"family": "Schilcher", "given": "J\u00f6rg", "initials": "J"}, {"family": "von Walden", "given": "Ferdinand", "initials": "F", "orcid": "0000-0003-1134-2252", "researcher": {"href": "https://publications.scilifelab.se/researcher/903e0b7523da4a49960e677009942f67.json"}}], "type": "journal-article", "published": "2026-07-01", "journal": {"title": "Am. J. Physiol., Cell Physiol.", "issn": "0363-6143", "volume": "331", "issue": "1", "pages": "C30-C40", "issn-l": null}, "abstract": "Skeletal muscle repair requires coordinated regulation of inflammation and protein synthesis, but the roles of ribosome biogenesis and protein composition remain poorly defined. To address this, mice underwent femoral artery ligation (FAL) to induce muscle regeneration over 28 days. In humans, tibialis anterior biopsies from patients with traumatic tibial fracture were subjected to RNA sequencing. Following FAL, c-Myc mRNA increased transiently, followed by increased ribosomal DNA transcription, leading to elevated total RNA levels. Skeletal muscle-specific ribosomal protein paralog RPL3L was replaced by the ubiquitously expressed RPL3 during the initial phases of recovery, but this shift was reversed by day 28. A substantial transcriptomic response was observed in human muscle injury, with heavy emphasis on MYC-induced anabolism and inflammation. This supports a model in which MYC-driven changes in ribosomal content and composition form a core anabolic module in skeletal muscle repair, potentially representing a targetable axis to enhance recovery after muscle injury.NEW & NOTEWORTHY Our findings establish ribosome biogenesis and ribosome remodeling as core components of the skeletal muscle regenerative program conserved across species. The rapid, MYC-driven induction of translational capacity, coupled with a transient switch in ribosomal protein composition, increases ribosome heterogeneity during skeletal muscle regeneration.", "doi": "10.1152/ajpcell.00184.2026", "pmid": "42065367", "labels": {"NGI Short read": "Service", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [], "notes": [], "created": "2026-05-11T12:28:52.694Z", "modified": "2026-07-04T19:00:44.074Z"}, {"entity": "publication", "iuid": "632d45cd5d4c4a929a9d60d3fed5b0c8", "links": {"self": {"href": "https://publications.scilifelab.se/publication/632d45cd5d4c4a929a9d60d3fed5b0c8.json"}, "display": {"href": "https://publications.scilifelab.se/publication/632d45cd5d4c4a929a9d60d3fed5b0c8"}}, "title": "Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy: A Register-Based Cohort Study.", "authors": [{"family": "Maya-Gonz\u00e1lez", "given": "Carolina", "initials": "C", "orcid": "0000-0003-0385-475X", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c08ce0ec0bf4403a7c187038cdf3ca5.json"}}, {"family": "Tettamanti", "given": "Giorgio", "initials": "G", "orcid": "0000-0002-5210-7219", "researcher": {"href": "https://publications.scilifelab.se/researcher/275ddc738872402aa820da4d0a3d60f0.json"}}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/c250909cc40f42ff9d6e2f640d12451b.json"}}, {"family": "Skarin Nordenvall", "given": "Anna", "initials": "A"}, {"family": "Sejersen", "given": "Thomas", "initials": "T", "orcid": "0000-0001-5961-7097", "researcher": {"href": "https://publications.scilifelab.se/researcher/ab13ad6b63424037addb7dd1afbda3b2.json"}}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications.scilifelab.se/researcher/08e74c6ddc27493696beca0883027cdd.json"}}], "type": "journal article", "published": "2024-10-22", "journal": {"title": "Neurology", "issn": "1526-632X", "volume": "103", "issue": "8", "pages": "e209883", "issn-l": "0028-3878"}, "abstract": "Muscular dystrophies and myotonic disorders are genetic disorders characterized by progressive skeletal muscle degeneration and weakness. Epidemiologic studies have found an increased cancer risk in myotonic dystrophy, although the cancer risk spectrum is poorly characterized. In patients with muscular dystrophy, the cancer risk is uncertain. We aimed to determine the overall cancer risk and cancer risk spectrum in patients with muscular dystrophy and myotonic dystrophy using data from the Swedish National registers.\n\nWe performed a matched cohort study in all patients with muscular dystrophy or myotonic dystrophy born in Sweden 1950-2017 and 50 matched comparisons by sex, year of birth, and birth county per individual. The association with cancer overall and specific malignancies was estimated using stratified Cox proportional hazard models.\n\nWe identified 2,355 and 1,968 individuals with muscular dystrophy and myotonic dystrophy, respectively. No increased overall cancer risk was found in muscular dystrophy. However, we observed an increased risk of astrocytomas and other gliomas during childhood (hazard ratio [HR] 8.70, 95% CI 3.57-21.20) and nonthyroid endocrine cancer (HR 2.35, 95% CI 1.03-5.34) and pancreatic cancer (HR 4.33, 95% CI 1.55-12.11) in adulthood. In myotonic dystrophy, we found an increased risk of pediatric brain tumors (HR 3.23, 95% CI 1.16-9.01) and an increased overall cancer risk in adults (HR 2.26, CI 1.92.2.66), specifically brain tumors (HR 10.44, 95% CI 7.30-14.95), thyroid (HR 3.92, 95% CI 1.70-9.03), and nonthyroid endocrine cancer (HR 7.49, 95% CI 4.47-12.56), endometrial (HR 8.32, 95% CI 4.22-16.40), ovarian (HR 4.00, 95% CI 1.60-10.01), and nonmelanoma skin cancer (HR 3.27, 95% CI 1.32-8.13).\n\nHere, we analyze the cancer risk spectrum of patients with muscular dystrophy and myotonic dystrophy. To the best of our knowledge, this is the first report of an increased risk for CNS tumors in childhood and adult nonthyroid endocrine and pancreatic cancer in muscular dystrophy. Furthermore, for myotonic dystrophy, we confirmed previously reported associations with cancer and expanded the cancer spectrum, finding an unreported increased risk for nonthyroid endocrine cancer. Additional studies confirming the cancer risk and delineating the cancer spectrum in different genetic subtypes of muscular dystrophies are warranted before considering altered cancer screening recommendations than for the general population.", "doi": "10.1212/WNL.0000000000209883", "pmid": "39298705", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11446166"}], "notes": [], "created": "2024-11-25T16:59:48.241Z", "modified": "2024-11-25T16:59:48.673Z"}]}