{"entity": "researcher", "timestamp": "2026-07-20T12:29:34.859Z", "family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/12b19ecb541c4d13a685b574390e8104.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/12b19ecb541c4d13a685b574390e8104"}}, "publications": [{"entity": "publication", "iuid": "8731474c0874412e8ff9f33c698c18a1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8731474c0874412e8ff9f33c698c18a1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8731474c0874412e8ff9f33c698c18a1"}}, "title": "Profiling of the microRNA transcriptome in feline whole blood.", "authors": [{"family": "Ohlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0003-1116-0141", "researcher": {"href": "https://publications.scilifelab.se/researcher/91d12e64d2d740669ec499319b66c22e.json"}}, {"family": "Han\u00e5s", "given": "Sofia", "initials": "S"}, {"family": "Holst", "given": "Bodil S", "initials": "BS"}, {"family": "Lorent", "given": "Julie", "initials": "J"}, {"family": "Andersson", "given": "G\u00f6ran", "initials": "G", "orcid": "0000-0001-5131-3144", "researcher": {"href": "https://publications.scilifelab.se/researcher/39ce81c314db47c8ad63c3ed38dffcb3.json"}}, {"family": "H\u00f6glund", "given": "Katja", "initials": "K"}, {"family": "Tidholm", "given": "Anna", "initials": "A"}, {"family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "researcher": {"href": "https://publications.scilifelab.se/researcher/12b19ecb541c4d13a685b574390e8104.json"}}, {"family": "H\u00e4ggstr\u00f6m", "given": "Jens", "initials": "J", "orcid": "0000-0003-3402-023X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5e1779188e20402294f12861a8232e71.json"}}], "type": "journal article", "published": "2025-07-31", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "15", "issue": "1", "pages": "27962", "issn-l": "2045-2322"}, "abstract": "Circulating microRNAs (miRNAs) are potential biomarkers for numerous diseases. Characterization of the whole blood (WB) miRNA-transcriptome (miRNome) in cats is lacking, which limits the potential use of miRNAs as biomarkers for diseases such as feline cardiovascular disease. The aims of the present study were to profile and evaluate circulating miRNAs in feline WB by high-throughput sequencing of the total miRNome in WB from twelve domestic mixed breed (DOM) and Norwegian Forest (NFO) cats stringently diagnosed with or without preclinical hypertrophic cardiomyopathy (HCM). A total of 459 mature miRNAs were identified in feline WB, of which 40 were potential novel feline miRNAs. A majority, 85.3%, of the miRNAs showed sequence similarity with human miRNAs. An effect of breed was found, with up to thirteen WB miRNAs being differentially abundant between breeds. The majority of the significant breed-specific miRNAs in feline WB could be associated with regulation of haematopoietic cells. One miRNA, miR-204-5p, was potentially associated with preclinical HCM in NFO cats, but the results need to be confirmed in a larger and sex-unbiased cohort. In conclusion, here we used miRNome-sequencing to identify hundreds of circulating miRNAs in feline WB. Breed should be considered when evaluating the miRNome in feline WB.", "doi": "10.1038/s41598-025-09478-x", "pmid": "40745193", "labels": {"Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Support and Infrastructure": "Collaborative", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC12313912"}, {"db": "pii", "key": "10.1038/s41598-025-09478-x"}], "notes": [], "created": "2025-09-05T08:24:52.249Z", "modified": "2025-09-09T13:12:41.462Z"}, {"entity": "publication", "iuid": "48bf04137ea64df1b6b70285f4f67cd2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/48bf04137ea64df1b6b70285f4f67cd2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/48bf04137ea64df1b6b70285f4f67cd2"}}, "title": "Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.", "authors": [{"family": "Rohdin", "given": "Cecilia", "initials": "C", "orcid": "0000-0002-7698-550X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c17d3c315f7149bb93ac86f48a18ab99.json"}}, {"family": "Wang", "given": "Chao", "initials": "C"}, {"family": "Brander", "given": "Gustaf", "initials": "G"}, {"family": "Rondahl", "given": "Veronica", "initials": "V"}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Friling", "given": "Lisa", "initials": "L"}, {"family": "Fischetti", "given": "Anthony", "initials": "A"}, {"family": "Meadows", "given": "Jennifer", "initials": "J"}, {"family": "H\u00e4ggstr\u00f6m", "given": "Jens", "initials": "J", "orcid": "0000-0003-3402-023X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5e1779188e20402294f12861a8232e71.json"}}, {"family": "J\u00e4derlund", "given": "Karin Hultin", "initials": "KH"}, {"family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "researcher": {"href": "https://publications.scilifelab.se/researcher/12b19ecb541c4d13a685b574390e8104.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "case reports", "published": "2023-06-09", "journal": {"title": "J. Vet. Intern. Med.", "issn": "1939-1676", "volume": "37", "issue": "4", "pages": "1507-1513", "issn-l": "0891-6640"}, "abstract": "Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea. One other pug was found dead. Radiographs of 2 affected pugs, 5 and 6 months old, showed generalized widening, and irregular margination of the physes of both the appendicular and the axial skeleton with generalized decrease in bone opacity and bulbous swelling of the costochondral junctions. Two pugs had low serum calcium and 1,25 (OH)2 D3 concentrations. Test results further indicated secondary hyperparathyroidism with adequate concentrations of 25-hydroxyvitamin D. Necropsy revealed tongue-like projections of cartilage extending into the metaphysis consistent with rickets, loss of metaphyseal mineralization and lung pathology. Vitamin D-dependent rickets was diagnosed. A truncating mutation in the 1\u03b1-hydroxylase gene (CYP27B1) was identified by genome sequence analysis of the pugs with VDDR type 1A. Vitamin D-dependent rickets type 1A can occur in young pugs, and if left untreated is a life-threatening condition. Early medical intervention can reverse clinical signs and should be instituted as soon as possible.", "doi": "10.1111/jvim.16791", "pmid": "37293695", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10365047"}], "notes": [], "created": "2023-11-29T10:49:54.098Z", "modified": "2024-01-16T13:48:33.185Z"}, {"entity": "publication", "iuid": "645dc13f41284da3a7f99f28a785e7e5", "links": {"self": {"href": "https://publications.scilifelab.se/publication/645dc13f41284da3a7f99f28a785e7e5.json"}, "display": {"href": "https://publications.scilifelab.se/publication/645dc13f41284da3a7f99f28a785e7e5"}}, "title": "The genetic consequences of dog breed formation-Accumulation of deleterious genetic variation and fixation of mutations associated with myxomatous mitral valve disease in cavalier King Charles spaniels.", "authors": [{"family": "Axelsson", "given": "Erik", "initials": "E", "orcid": "0000-0001-6748-5450", "researcher": {"href": "https://publications.scilifelab.se/researcher/36430335097c4864b97539aa8bd1d6f1.json"}}, {"family": "Ljungvall", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-6617-0454", "researcher": {"href": "https://publications.scilifelab.se/researcher/12b19ecb541c4d13a685b574390e8104.json"}}, {"family": "Bhoumik", "given": "Priyasma", "initials": "P", "orcid": "0000-0002-0698-5213", "researcher": {"href": "https://publications.scilifelab.se/researcher/658bd7e9fa2544d4b074bbf3b398ee2d.json"}}, {"family": "Conn", "given": "Laura Bas", "initials": "LB", "orcid": "0000-0003-3063-7160", "researcher": {"href": "https://publications.scilifelab.se/researcher/0b2f8d9874f24dc48cbff4a22bc521e9.json"}}, {"family": "Muren", "given": "Eva", "initials": "E"}, {"family": "Ohlsson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0003-1116-0141", "researcher": {"href": "https://publications.scilifelab.se/researcher/91d12e64d2d740669ec499319b66c22e.json"}}, {"family": "Olsen", "given": "Lisbeth H\u00f8ier", "initials": "LH", "orcid": "0000-0002-0292-3111", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ad86fe9b2c14f8a8cabce67fd97836a.json"}}, {"family": "Engdahl", "given": "Karolina", "initials": "K", "orcid": "0000-0003-2800-9990", "researcher": {"href": "https://publications.scilifelab.se/researcher/eae1015240ea4637ade953b6c6ffa084.json"}}, {"family": "Hagman", "given": "Ragnvi", "initials": "R", "orcid": "0000-0002-9853-4558", "researcher": {"href": "https://publications.scilifelab.se/researcher/5192e729c95c4653b1f3b258187ef5cc.json"}}, {"family": "Hanson", "given": "Jeanette", "initials": "J", "orcid": "0000-0001-5596-9538", "researcher": {"href": "https://publications.scilifelab.se/researcher/126ddee571444a5aaac298e3d60b7e49.json"}}, {"family": "Kryvokhyzha", "given": "Dmytro", "initials": "D", "orcid": "0000-0001-6498-1977", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3ca1c441506436282871ecd40f7be35.json"}}, {"family": "Pettersson", "given": "Mats", "initials": "M", "orcid": "0000-0002-7372-9076", "researcher": {"href": "https://publications.scilifelab.se/researcher/27011c7fbb8a44dda536a4fc876675b0.json"}}, {"family": "Grenet", "given": "Olivier", "initials": "O"}, {"family": "Moggs", "given": "Jonathan", "initials": "J"}, {"family": "Del Rio-Espinola", "given": "Alberto", "initials": "A"}, {"family": "Epe", "given": "Christian", "initials": "C", "orcid": "0000-0001-9144-0930", "researcher": {"href": "https://publications.scilifelab.se/researcher/cdce7e5c483c43258c5082610ef46125.json"}}, {"family": "Taillon", "given": "Bruce", "initials": "B", "orcid": "0000-0002-2124-7921", "researcher": {"href": "https://publications.scilifelab.se/researcher/a2f6bdb3c1404cc88eb2771d2bb4d3fe.json"}}, {"family": "Tawari", "given": "Nilesh", "initials": "N", "orcid": "0000-0002-1127-0765", "researcher": {"href": "https://publications.scilifelab.se/researcher/03aaffb62f14402a8bc51a9e00029188.json"}}, {"family": "Mane", "given": "Shrinivas", "initials": "S", "orcid": "0000-0003-4123-624X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7434a83edf4a400a8bd52a84391edfbb.json"}}, {"family": "Hawkins", "given": "Troy", "initials": "T", "orcid": "0000-0002-6982-5014", "researcher": {"href": "https://publications.scilifelab.se/researcher/c649726ebbd14f93a19740206d26fd7f.json"}}, {"family": "Hedhammar", "given": "\u00c5ke", "initials": "\u00c5"}, {"family": "Gruet", "given": "Philippe", "initials": "P"}, {"family": "H\u00e4ggstr\u00f6m", "given": "Jens", "initials": "J", "orcid": "0000-0003-3402-023X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5e1779188e20402294f12861a8232e71.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "journal article", "published": "2021-09-00", "journal": {"title": "PLoS Genet.", "issn": "1553-7404", "volume": "17", "issue": "9", "pages": "e1009726", "issn-l": "1553-7390"}, "abstract": "Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a consequence, specific diseases are now prevalent in certain breeds, but whether the recent breeding practice led to an overall increase in genetic load remains unclear. Here we generate whole genome sequencing (WGS) data from 20 dogs per breed from eight breeds and document a ~10% rise in the number of derived alleles per genome at evolutionarily conserved sites in the heavily bottlenecked cavalier King Charles spaniel breed (cKCs) relative to in most breeds studied here. Our finding represents the first clear indication of a relative increase in levels of deleterious genetic variation in a specific breed, arguing that recent breeding practices probably were associated with an accumulation of genetic load in dogs. We then use the WGS data to identify candidate risk alleles for the most common cause for veterinary care in cKCs-the heart disease myxomatous mitral valve disease (MMVD). We verify a potential link to MMVD for candidate variants near the heart specific NEBL gene in a dachshund population and show that two of the NEBL candidate variants have regulatory potential in heart-derived cell lines and are associated with reduced NEBL isoform nebulette expression in papillary muscle (but not in mitral valve, nor in left ventricular wall). Alleles linked to reduced nebulette expression may hence predispose cKCs and other breeds to MMVD via loss of papillary muscle integrity.", "doi": "10.1371/journal.pgen.1009726", "pmid": "34473707", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "PGENETICS-D-21-00373"}, {"db": "pmc", "key": "PMC8412370"}], "notes": [], "created": "2021-09-13T06:41:47.658Z", "modified": "2024-01-16T13:48:38.576Z"}]}