{"entity": "researcher", "timestamp": "2026-09-23T15:22:18.738Z", "family": "Reilly", "given": "Dermot F", "initials": "DF", "orcid": "0000-0002-9456-1364", "affiliations": ["Genetics and Pharmacogenomics, Merck & Co., Inc., Boston, MA, USA."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d0b98112f2c438aa42a4af98e58d712.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d0b98112f2c438aa42a4af98e58d712"}}, "publications": [{"entity": "publication", "iuid": "4b3db8c0d0dc472d8c208b3ec381f251", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4b3db8c0d0dc472d8c208b3ec381f251.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4b3db8c0d0dc472d8c208b3ec381f251"}}, "title": "Super-Resolution Imaging of the Filtration Barrier Suggests a Role for Podocin R229Q in Genetic Predisposition to Glomerular Disease.", "authors": [{"family": "Butt", "given": "Linus", "initials": "L"}, {"family": "Unnersj\u00f6-Jess", "given": "David", "initials": "D", "orcid": "0000-0002-4162-0973", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/32d1982020d14121b558c26285b212ca.json"}}, {"family": "H\u00f6hne", "given": "Martin", "initials": "M", "orcid": "0000-0001-8698-5389", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6f56c4a58c2946bcb5ca08dede681fba.json"}}, {"family": "Hahnfeldt", "given": "Robert", "initials": "R"}, {"family": "Reilly", "given": "Dervla", "initials": "D", "orcid": "0000-0002-9456-1364", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d0b98112f2c438aa42a4af98e58d712.json"}}, {"family": "Rinschen", "given": "Markus M", "initials": "MM"}, {"family": "Plagmann", "given": "Ingo", "initials": "I", "orcid": "0000-0003-0263-7040", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/33bc2ed829db49da9dee963d535fad97.json"}}, {"family": "Diefenhardt", "given": "Paul", "initials": "P"}, {"family": "Br\u00e4hler", "given": "Sebastian", "initials": "S"}, {"family": "Brinkk\u00f6tter", "given": "Paul T", "initials": "PT"}, {"family": "Brismar", "given": "Hjalmar", "initials": "H", "orcid": "0000-0003-0578-4003", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04321d9fb805493db538489927a42c8f.json"}}, {"family": "Blom", "given": "Hans", "initials": "H"}, {"family": "Schermer", "given": "Bernhard", "initials": "B"}, {"family": "Benzing", "given": "Thomas", "initials": "T", "orcid": "0000-0003-0512-1066", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f24f9d32cbb84788a18c558e48cac2a8.json"}}], "type": "journal article", "published": "2022-01-00", "journal": {"title": "J. Am. Soc. Nephrol.", "issn": "1533-3450", "volume": "33", "issue": "1", "pages": "138-154", "issn-l": "1046-6673"}, "abstract": "Diseases of the kidney's glomerular filtration barrier are a leading cause of end stage renal failure. Despite a growing understanding of genes involved in glomerular disorders in children, the vast majority of adult patients lack a clear genetic diagnosis. The protein podocin p.R229Q, which results from the most common missense variant in NPHS2, is enriched in cohorts of patients with FSGS. However, p.R229Q has been proposed to cause disease only when transassociated with specific additional genetic alterations, and population-based epidemiologic studies on its association with albuminuria yielded ambiguous results.\n\nTo test whether podocin p.R229Q may also predispose to the complex disease pathogenesis in adults, we introduced the exact genetic alteration in mice using CRISPR/Cas9-based genome editing (Pod ). We assessed the phenotype using super-resolution microscopy and albuminuria measurements and evaluated the stability of the mutant protein in cell culture experiments.R231Q\n\nHeterozygous Pod mice did not present any overt kidney disease or proteinuria. However, homozygous R231Q/wild-typePod mice developed increased levels of albuminuria with age, and super-resolution microscopy revealed preceding ultrastructural morphologic alterations that were recently linked to disease predisposition. When injected with nephrotoxic serum to induce glomerular injury, heterozygous R231Q/R231QPod mice showed a more severe course of disease compared with R231Q/wild-typePod mice. Podocin protein levels were decreased in wild-type/wild-typePod and R231Q/wild-typePod mice as well as in human cultured podocytes expressing the podocinR231Q/R231QR231Q variant. Our in vitro experiments indicate an underlying increased proteasomal degradation.\n\nOur findings demonstrate that podocin R231Q exerts a pathogenic effect on its own, supporting the concept of podocin R229Q contributing to genetic predisposition in adult patients.", "doi": "10.1681/ASN.2020060858", "pmid": "34853150", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8763184"}, {"db": "pii", "key": "00001751-202201000-00016"}], "notes": [], "created": "2026-09-23T12:01:19.209Z", "modified": "2026-09-23T14:51:18.858Z"}, {"entity": "publication", "iuid": "a47af805c5644d568e267461ae8e9f42", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a47af805c5644d568e267461ae8e9f42.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a47af805c5644d568e267461ae8e9f42"}}, "title": "Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.", "authors": [{"family": "Justice", 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{"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d034d0cd32a84b959bd29f8ef8c91979.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Lettre", "given": "Guillaume", "initials": "G"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fac0e041c56347fe98cef9ae8f004b67.json"}}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Kutalik", "given": "Zolt\u00e1n", "initials": "Z", "orcid": "0000-0001-8285-7523", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e566b994d65a4365b224cd4ae369827a.json"}}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/179eb6511eba4d33b633599c5652e344.json"}}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM", "orcid": "0000-0002-4903-9374", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b5c82df5e7bc43e4874726fb16924cf5.json"}}, {"family": "CHD Exome+ Consortium", "given": "", "initials": ""}, {"family": "Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium", "given": "", "initials": ""}, {"family": "EPIC-CVD Consortium", "given": "", "initials": ""}, {"family": "ExomeBP Consortium", "given": "", "initials": ""}, {"family": "Global Lipids Genetic Consortium", "given": "", "initials": ""}, {"family": "GoT2D Genes Consortium", "given": "", "initials": ""}, {"family": "InterAct", "given": "", "initials": ""}, {"family": "ReproGen Consortium", "given": "", "initials": ""}, {"family": "T2D-Genes Consortium", "given": "", "initials": ""}, {"family": "MAGIC Investigators", "given": "", "initials": ""}], "type": "journal article", "published": "2019-03-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "3", "pages": "452-469", "issn-l": "1061-4036"}, "abstract": "Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF \u22655%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.", "doi": "10.1038/s41588-018-0334-2", "pmid": "30778226", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1016010"}, {"db": "pmc", "key": "PMC6560635"}, {"db": "pii", "key": "10.1038/s41588-018-0334-2"}], "notes": [], "created": "2026-09-23T07:38:33.413Z", "modified": "2026-09-23T07:38:34.499Z"}]}