{"entity": "researcher", "timestamp": "2026-09-25T03:49:14.723Z", "family": "Fadeel", "given": "Bengt", "initials": "B", "orcid": "0000-0001-5559-8482", "affiliations": ["Nanosafety and Nanomedicine Laboratory, Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, 171 77, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/beb0e70b3ce441578a7c690ae157ba0b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/beb0e70b3ce441578a7c690ae157ba0b"}}, "publications": [{"entity": "publication", "iuid": "2a8ce39467ea456a9ba9d531422c6265", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2a8ce39467ea456a9ba9d531422c6265.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2a8ce39467ea456a9ba9d531422c6265"}}, "title": "Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.", "authors": [{"family": "Khandagale", "given": "Avinash", "initials": "A"}, {"family": "Holmlund", "given": "Teresa", "initials": "T"}, {"family": "Entesarian", "given": "Miriam", "initials": "M"}, {"family": "Nilsson", "given": "Daniel", "initials": "D"}, {"family": "Kalwak", "given": "Krzysztof", "initials": "K"}, {"family": "Klaudel-Dreszler", "given": "Maja", "initials": "M"}, {"family": "Carlsson", "given": "G\u00f6ran", "initials": "G"}, {"family": "Henter", "given": "Jan-Inge", "initials": "JI"}, {"family": "Nordenskj\u00f6ld", "given": "Magnus", "initials": "M"}, {"family": "Fadeel", "given": "Bengt", "initials": "B", "orcid": "0000-0001-5559-8482", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/beb0e70b3ce441578a7c690ae157ba0b.json"}}], "type": "journal article", "published": "2021-01-00", "journal": {"title": "Br. J. Haematol.", "issn": "1365-2141", "volume": "192", "issue": "1", "pages": "200-211", "issn-l": "0007-1048"}, "abstract": "Severe congenital neutropenia (SCN) of autosomal recessive inheritance, also known as Kostmann disease, is characterised by a lack of neutrophils and a propensity for life-threatening infections. Using whole-exome sequencing, we identified homozygous JAGN1 mutations (p.Gly14Ser and p.Glu21Asp) in three patients with Kostmann-like SCN, thus confirming the recent attribution of JAGN1 mutations to SCN. Using the human promyelocytic cell line HL-60 as a model, we found that overexpression of patient-derived JAGN1 mutants, but not silencing of JAGN1, augmented cell death in response to the pro-apoptotic stimuli, etoposide, staurosporine, and thapsigargin. Furthermore, cells expressing mutant JAGN1 were remarkably susceptible to agonists that normally trigger degranulation and succumbed to a calcium-dependent cell death programme. This mode of cell death was completely prevented by pharmacological inhibition of calpain but unaffected by caspase inhibition. In conclusion, our results confirmed the association between JAGN1 mutations and SCN and showed that SCN-associated JAGN1 mutations unleash a calcium- and calpain-dependent cell death in myeloid cells.", "doi": "10.1111/bjh.17137", "pmid": "33206996", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7839451"}], "notes": [], "created": "2026-09-23T11:56:31.078Z", "modified": "2026-09-23T11:56:31.135Z"}, {"entity": "publication", "iuid": "3a220c51d5ea460c904d5d9588c1646e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3a220c51d5ea460c904d5d9588c1646e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3a220c51d5ea460c904d5d9588c1646e"}}, "title": "Next-Generation Sequencing Reveals Differential Responses to Acute versus Long-Term Exposures to Graphene Oxide in Human Lung Cells.", "authors": [{"family": "Mukherjee", "given": "Sourav P", "initials": "SP"}, {"family": "Gupta", "given": "Govind", "initials": "G"}, {"family": "Kl\u00f6ditz", "given": "Katharina", "initials": "K"}, {"family": "Wang", "given": "Jun", "initials": "J"}, {"family": "Rodrigues", "given": "Artur Filipe", "initials": "AF"}, {"family": "Kostarelos", "given": "Kostas", "initials": "K"}, {"family": "Fadeel", "given": "Bengt", "initials": "B", "orcid": "0000-0001-5559-8482", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/beb0e70b3ce441578a7c690ae157ba0b.json"}}], "type": "journal article", "published": "2020-05-00", "journal": {"title": "Small", "issn": "1613-6829", "volume": "16", "issue": "21", "pages": "e1907686", "issn-l": "1613-6810"}, "abstract": "Numerous studies have addressed the biological impact of graphene-based materials including graphene oxide (GO), yet few have focused on long-term effects. Here, RNA sequencing is utilized to unearth responses of human lung cells to GO. To this end, the BEAS-2B cell line derived from normal human bronchial epithelium is subjected to repeated, low-dose exposures of GO (1 or 5 \u00b5g mL-1 ) for 28 days or to the equivalent, cumulative amount of GO for 48 h. Then, samples are analyzed by using the NovaSeq 6000 sequencing system followed by pathway analysis and gene ontology enrichment analysis of the differentially expressed genes. Significant differences are seen between the low-dose, long-term exposures and the high-dose, short-term exposures. Hence, exposure to GO for 48 h results in mitochondrial dysfunction. In contrast, exposure to GO for 28 days is characterized by engagement of apoptosis pathways with downregulation of genes belonging to the inhibitor of apoptosis protein (IAP) family. Validation experiments confirm that long-term exposure to GO affects the apoptosis threshold in lung cells, accompanied by a loss of IAPs. These studies reveal the sensitivity of RNA-sequencing approaches and show that acute exposure to GO is not a good predictor of the long-term effects of GO.", "doi": "10.1002/smll.201907686", "pmid": "32227449", "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T09:53:53.297Z", "modified": "2026-09-23T10:27:59.829Z"}]}