{"entity": "researcher", "timestamp": "2026-08-13T17:51:43.082Z", "family": "Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "affiliations": ["Clinical Genomics, SciLifeLab, Uppsala University.", "Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a"}}, "publications": [{"entity": "publication", "iuid": "bc1322ec034a40f2b805278a57b8c967", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bc1322ec034a40f2b805278a57b8c967.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bc1322ec034a40f2b805278a57b8c967"}}, "title": "Genomic Medicine Sweden: Advancing precision medicine at the national level.", "authors": [{"family": "Edsj\u00f6", "given": "Anders", "initials": "A", "orcid": "0000-0001-8783-8284", "researcher": {"href": "https://publications.scilifelab.se/researcher/6fae25d88855440194b9bb11b3d18bf8.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications.scilifelab.se/researcher/17370bd509dc4b1081af5aed9e5117c7.json"}}, {"family": "Gisselsson", "given": "David", "initials": "D", "orcid": "0000-0002-0301-426X", "researcher": {"href": "https://publications.scilifelab.se/researcher/3653582762b14f9a9ad2fe6aba511115.json"}}, {"family": "M\u00f6lling", "given": "Paula", "initials": "P", "orcid": "0009-0000-1143-9105", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c9cbe61c77f4b76827d2043c8cf8dd9.json"}}, 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"Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "Palmqvist", "given": "Lars", "initials": "L", "orcid": "0000-0001-9274-360X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e50c0057dcb47f39e085b16580806c2.json"}}, {"family": "Palmqvist", "given": "Richard", "initials": "R", "orcid": "0000-0002-9933-2843", "researcher": {"href": "https://publications.scilifelab.se/researcher/40ae823e5364458b8f957a65a82c741f.json"}}, {"family": "Stenmark", "given": "Bianca", "initials": "B", "orcid": "0000-0003-4637-8626", "researcher": {"href": "https://publications.scilifelab.se/researcher/726c71c7aca148c981b48bde574a2e1c.json"}}, {"family": "Wedell", "given": "Anna", "initials": "A", "orcid": "0000-0002-2612-6301", "researcher": {"href": "https://publications.scilifelab.se/researcher/15f660ec95994b6a83d540e48c9b7610.json"}}, {"family": "Karn\u00e5", "given": "Malin", "initials": "M", "orcid": "0009-0005-7554-5624", "researcher": {"href": "https://publications.scilifelab.se/researcher/47a8cf1747f44f27ad4100a1482ec366.json"}}, {"family": "Nystr\u00f6m", "given": "Katarina", "initials": "K"}, {"family": "Strid", "given": "Tobias", "initials": "T", "orcid": "0000-0002-2166-5170", "researcher": {"href": "https://publications.scilifelab.se/researcher/8294f89150574803a12bc1944714d12b.json"}}, {"family": "Sikora", "given": "Per", "initials": "P"}, {"family": "Johansson", "given": "Maria", "initials": "M"}, {"family": "Fagerqvist", "given": "Therese", "initials": "T", "orcid": "0009-0001-6198-204X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ae6ecce0d7244628b85f1e9eb1e081e.json"}}, {"family": "M\u00f6ller", "given": "Mirja Carlsson", "initials": "MC"}, {"family": "Frisell", "given": "Oskar", "initials": "O", "orcid": "0009-0004-3890-1848", "researcher": {"href": "https://publications.scilifelab.se/researcher/514d933cded443d5912d69c3ff79fb4a.json"}}, {"family": "Ulfendahl", "given": "Mats", "initials": "M", "orcid": "0000-0002-5692-7169", "researcher": {"href": "https://publications.scilifelab.se/researcher/e6cbed50b36449abb53c2d23d841a9b4.json"}}, {"family": "Friedman", "given": "Mikaela", "initials": "M", "orcid": "0000-0002-5483-9771", "researcher": {"href": "https://publications.scilifelab.se/researcher/f1507c81499748d8bf0ee1eb647a37d4.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f01226edb140436da0c9d166c1f5fe51.json"}}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications.scilifelab.se/researcher/cba024b2e3c347f6b981922d984ad2d6.json"}}, {"family": "Fioretos", "given": "Thoas", "initials": "T", "orcid": "0000-0002-3235-6154", "researcher": {"href": "https://publications.scilifelab.se/researcher/35a5c1b6023345c6b1317c590bf80680.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications.scilifelab.se/researcher/b570128e641140fb964ae3241414f510.json"}}], "type": "journal article", "published": "2026-07-06", "journal": {"title": "J. Intern. Med.", "issn": "1365-2796", "issn-l": "0954-6820"}, "abstract": "High-throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease-causing genetic alterations and facilitating individualised treatment and care. In response to these advances, Genomic Medicine Sweden (GMS) was established in 2017 as a national collaborative effort to accelerate implementation of genomics-based precision medicine within Sweden's regionally organized, publicly funded healthcare system. GMS brings together the seven university healthcare regions and their associated medical faculties, in collaboration with healthcare regions across Sweden, Science for Life Laboratory, patient organizations, industry and governmental agencies. Activities are coordinated through national disease-specific expert groups, supported by cross-cutting functions in bioinformatics, health economics, ethics, education and patient engagement. At the operational level, seven Genomic Medicine Centres, embedded at university hospitals, develop and deliver harmonised genomic diagnostics nationwide. The National Genomics Platform provides secure infrastructure for large-scale data storage, analysis, and national and international data sharing. Following initial project-based funding, GMS now receives long-term governmental support. This review describes the national implementation of genomic-based precision diagnostics, discusses challenges and lessons learnt, and highlights key milestones across disease areas, including whole-genome sequencing in RD and paediatric cancer, comprehensive genomic profiling of haematological malignancies and solid tumours, pathogen genomics in microbiology, pharmacogenomic testing and emerging applications of polygenic risk scores in complex diseases. Collectively, these efforts have contributed to more than 500,000 genomic tests being performed within Swedish healthcare between 2017 and 2025. Finally, we outline future diagnostic needs and priority areas to ensure sustainable, scalable and equitable access to precision medicine.", "doi": "10.1111/joim.70129", "pmid": "42410492", "labels": {"Clinical Genomics": "Collaborative", "Clinical Genomics Uppsala": "Collaborative"}, "xrefs": [], "notes": [], "created": "2026-08-07T07:54:44.627Z", "modified": "2026-08-07T07:54:45.660Z"}, {"entity": "publication", "iuid": "e4d664134fa14e3f9777bf6603b31f4a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e4d664134fa14e3f9777bf6603b31f4a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e4d664134fa14e3f9777bf6603b31f4a"}}, "title": "Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results.", "authors": [{"family": "Smeds", "given": "Patrik", "initials": "P"}, {"family": "Baranowska K\u00f6rberg", "given": "Izabella", "initials": "I"}, {"family": "Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c5c362dc308476195eb55d2e588ba60.json"}}], "type": "journal article", "published": "2025-01-20", "journal": {"title": "BMC Med Genomics", "issn": "1755-8794", "volume": "18", "issue": "1", "pages": "15", "issn-l": "1755-8794"}, "abstract": "Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data. The interpretation of the test results and the clinical report writing, however, remains the responsibility of the diagnostic laboratory. In order to facilitate this step, we developed NIPTviewer, a web-based application to visualize and guide the interpretation of NIPT data results.\n\nNIPTviewer has a database functionality to store the NIPT results and a web interface for user interaction and visualization. The application has been implemented as part of a novel analysis pipeline for NIPT in a diagnostic laboratory at Uppsala University Hospital. The validation data set included 84 previously analyzed plasma samples with known results regarding chromosomes 13, 18, 21, X and Y. They were sequenced in six different experiments, uploaded to NIPTviewer and assigned to a clinical laboratory geneticist for interpretation. The results of all previously analyzed samples were replicated.\n\nNIPTviewer facilitates NIPT results interpretation and has been implemented as part of a NIPT analysis routine that was accredited by the national accreditation body for Sweden (Swedac).", "doi": "10.1186/s12920-025-02086-8", "pmid": "39833870", "labels": {"Clinical Genomics Uppsala": "Technology development", "Clinical Genomics": "Technology development"}, "xrefs": [{"db": "pmc", "key": "PMC11748546"}, {"db": "pii", "key": "10.1186/s12920-025-02086-8"}], "notes": [], "created": "2025-03-19T04:59:24.616Z", "modified": "2025-03-24T08:23:37.812Z"}, {"entity": "publication", "iuid": "0a094f348c054d099c58c9b1e242ff44", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0a094f348c054d099c58c9b1e242ff44.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0a094f348c054d099c58c9b1e242ff44"}}, "title": "Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.", "authors": [{"family": "De Coster", "given": "Wouter", "initials": "W", "orcid": "0000-0002-5248-8197", "researcher": {"href": "https://publications.scilifelab.se/researcher/2232314f629841e3ae45eabf32619173.json"}}, {"family": "H\u00f6ijer", "given": "Ida", "initials": "I", "orcid": "0000-0002-3915-3384", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ba4ce20b1b447ada4fdc8256211436e.json"}}, {"family": "Bruggeman", "given": "Inge", "initials": "I"}, {"family": "D'Hert", "given": "Svenn", "initials": "S", "orcid": "0000-0002-1502-5329", "researcher": {"href": "https://publications.scilifelab.se/researcher/45329364c81c43ce9f545d2289e03d2e.json"}}, {"family": "Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications.scilifelab.se/researcher/e960811513664a78b2804a00ee70f7c3.json"}}, {"family": "Rademakers", "given": "Rosa", "initials": "R", "orcid": "0000-0002-4049-0863", "researcher": {"href": "https://publications.scilifelab.se/researcher/269957fa02b04958a8d783fa29cf65e2.json"}}], "type": "journal article", "published": "2024-11-20", "journal": {"title": "Genome Res.", "issn": "1549-5469", "volume": "34", "issue": "11", "pages": "2074-2080", "issn-l": "1088-9051"}, "abstract": "The lack of population-scale databases hampers research and diagnostics for medically relevant tandem repeats and repeat expansions. We attempt to fill this gap using our pathSTR web tool, which leverages long-read sequencing of large cohorts to determine repeat length and sequence composition in a healthy population. The current version includes 1040 individuals of The 1000 Genomes Project cohort sequenced on the Oxford Nanopore Technologies PromethION. A comprehensive set of medically relevant tandem repeats has been genotyped using STRdust and LongTR to determine the tandem repeat length and sequence composition. PathSTR provides rich visualizations of this data set and the feature to upload one's data for comparison along the control cohort. We demonstrate the implementation of this application using data from targeted nanopore sequencing of a patient with myotonic dystrophy type 1. This resource will empower the genetics community to get a more complete overview of normal variation in tandem repeat length and sequence composition and, as such, enable a better assessment of rare tandem repeat alleles observed in patients.", "doi": "10.1101/gr.279265.124", "pmid": "39147583", "labels": {"NGI Uppsala (Uppsala Genome Center)": "Technology development", "NGI Long read": "Technology development", "National Genomics Infrastructure": "Technology development", "Clinical Genomics Uppsala": "Technology development", "Clinical Genomics": "Technology development"}, "xrefs": [{"db": "pii", "key": "gr.279265.124"}], "notes": [], "created": "2024-09-03T12:15:49.306Z", "modified": "2024-11-22T09:46:59.428Z"}, {"entity": "publication", "iuid": "a8fd622b15c7467f997c96de28f1a14e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a8fd622b15c7467f997c96de28f1a14e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a8fd622b15c7467f997c96de28f1a14e"}}, "title": "Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.", "authors": [{"family": "Mathioudaki", "given": "Argyri", "initials": "A"}, {"family": "Ljungstr\u00f6m", "given": "Viktor", "initials": "V"}, {"family": "Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "Arendt", "given": "Maja Louise", "initials": "ML"}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications.scilifelab.se/researcher/2603df7f3ff84e6980605b9e8eef4c2f.json"}}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Mur\u00e9n", "given": "Eva", "initials": "E"}, {"family": "Saksena", "given": "Pushpa", "initials": "P"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Marinescu", "given": "Voichita D", "initials": "VD"}, {"family": "Sj\u00f6blom", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6668-4140", "researcher": {"href": "https://publications.scilifelab.se/researcher/909f00a5bf6e465f9ff560b12bcd863a.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0063145f7d6476f80ab42f94833f4cf.json"}}], "type": "journal article", "published": "2020-11-09", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "10", "issue": "1", "pages": "19304", "issn-l": "2045-2322"}, "abstract": "Breast cancer (BC) is a genetically heterogeneous disease with high prevalence in Northern Europe. However, there has been no detailed investigation into the Scandinavian somatic landscape. Here, in a homogeneous Swedish cohort, we describe the somatic events underlying BC, leveraging a targeted next-generation sequencing approach. We designed a 20.5 Mb array targeting coding and regulatory regions of genes with a known role in BC (n = 765). The selected genes were either from human BC studies (n = 294) or from within canine mammary tumor associated regions (n = 471). A set of predominantly estrogen receptor positive tumors (ER + 85%) and their normal tissue counterparts (n = 61) were sequenced to ~ 140 \u00d7 and 85 \u00d7 mean target coverage, respectively. MuTect2 and VarScan2 were employed to detect single nucleotide variants (SNVs) and copy number aberrations (CNAs), while MutSigCV (SNVs) and GISTIC (CNAs) algorithms estimated the significance of recurrent somatic events. The significantly mutated genes (q \u2264 0.01) were PIK3CA (28% of patients), TP53 (21%) and CDH1 (11%). However, histone modifying genes contained the largest number of variants (KMT2C and ARID1A, together 28%). Mutations in KMT2C were mutually exclusive with PI3KCA mutations (p \u2264 0. 001) and half of these affect the formation of a functional PHD domain. The tumor suppressor CDK10 was deleted in 80% of the cohort while the oncogene MDM4 was amplified. Mutational signature analyses pointed towards APOBEC deaminase activity (COSMIC signature 2) and DNA mismatch repair (COSMIC signature 6). We noticed two significantly distinct patterns related to patient age; TP53 being more mutated in the younger group (29% vs 9% of patients) and CDH23 mutations were absent from the older group. The increased somatic mutation prevalence in the histone modifying genes KMT2C and ARID1A distinguishes the Swedish cohort from previous studies. KMT2C regulates enhancer activation and assists tumor proliferation in a hormone-rich environment, possibly pointing to a role in ER + BC, especially in older cases. Finally, age of onset appears to affect the mutational landscape suggesting that a larger age-diverse population incorporating more molecular subtypes should be studied to elucidate the underlying mechanisms.", "doi": "10.1038/s41598-020-74580-1", "pmid": "33168853", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41598-020-74580-1"}, {"db": "pmc", "key": "PMC7653953"}], "notes": [], "created": "2020-12-08T23:29:22.318Z", "modified": "2024-01-16T13:48:41.384Z"}, {"entity": "publication", "iuid": "f4427096b88f41f3962469e06754180d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f4427096b88f41f3962469e06754180d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f4427096b88f41f3962469e06754180d"}}, "title": "A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.", "authors": [{"family": "K\u00f6rberg", "given": "Izabella", "initials": "I"}, {"family": "Nowinski", "given": "Daniel", "initials": "D"}, {"family": "Bondeson", "given": "Marie-Louise", "initials": "ML"}, {"family": "Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "K\u00f6lby", "given": "Lars", "initials": "L"}, {"family": "Stattin", "given": "Eva-Lena", "initials": "EL"}], "type": "case reports", "published": "2020-05-05", "journal": {"title": "BMC Med. Genet.", "issn": "1471-2350", "volume": "21", "issue": "1", "pages": "90", "issn-l": "1471-2350"}, "abstract": "ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course.\n\nTwo subjects; a boy with a BLSS requiring repeated skull expansions and his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at some point during the course, which was for both verified by formal invasive intracranial pressure monitoring. Exome sequencing revealed a pathogenic truncating frame shift variant in the ERF gene.\n\nHere we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10). Our work provides supplementary evidence in support of previous phenotypic descriptions of ERF-related craniosynostosis, particularly late presentation, an evolving synostotic pattern and variable expressivity even among affected family members.", "doi": "10.1186/s12881-020-01015-z", "pmid": "32370745", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "10.1186/s12881-020-01015-z"}, {"db": "pmc", "key": "PMC7201657"}], "notes": [], "created": "2020-05-11T22:07:48.851Z", "modified": "2021-12-06T08:29:24.182Z"}, {"entity": "publication", "iuid": "764f6d2c025b4c0abd3ffeddeef83720", "links": {"self": {"href": "https://publications.scilifelab.se/publication/764f6d2c025b4c0abd3ffeddeef83720.json"}, "display": {"href": "https://publications.scilifelab.se/publication/764f6d2c025b4c0abd3ffeddeef83720"}}, "title": "Impact of vitamin D and vitamin D receptor TaqI polymorphism in primary human myoblasts.", "authors": [{"family": "Saini", "given": "Amarjit", "initials": "A"}, {"family": "Bj\u00f6rkhem-Bergman", "given": "Linda", "initials": "L"}, {"family": "Bostr\u00f6m", "given": "Johan", "initials": "J"}, {"family": "Lilja", "given": "Mats", "initials": "M"}, {"family": "Melin", "given": "Michael", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "Olsson", "given": "Karl", "initials": "K"}, {"family": "Ekstr\u00f6m", "given": "Lena", "initials": "L"}, {"family": "Bergman", "given": "Peter", "initials": "P"}, {"family": "Altun", "given": "Mikael", "initials": "M"}, {"family": "Rullman", "given": "Eric", "initials": "E"}, {"family": "Gustafsson", "given": "Thomas", "initials": "T"}], "type": "journal article", "published": "2019-07-29", "journal": {"volume": "8", "issn": "2049-3614", "issue": "7", "pages": "1070-1081", "title": "Endocr Connect", "issn-l": "2049-3614"}, "abstract": "The CC-genotype of the VDR polymorphism TaqI rs731236 has previously been associated with a higher risk of developing myopathy compared to TT-carriers. However, the mechanistic role of this polymorphism in skeletal muscle is not well defined. The effects of vitamin D on patients genotyped for the VDR polymorphism TaqI rs731236, comparing CC and TT-carriers were evaluated. Primary human myoblasts isolated from 4 CC-carriers were compared with myoblasts isolated from 4 TT-carriers and treated with vitamin D in vitro. A dose-dependent inhibitory effect on myoblast proliferation and differentiation was observed concurrent with modifications of key myogenic regulatory factors. RNA-sequencing revealed a Vitamin D dose-response gene signature enriched with a higher number of VDR-responsive elements (VDREs) per gene. Interestingly, the greater the expression of muscle differentiation markers in myoblasts the more pronounced was the Vitamin D-mediated response to suppress genes associated with myogenic fusion and myotube formation. This novel finding provides a mechanistic explanation to the inconsistency regarding previous reports of the role of vitamin D in myoblast differentiation. No effects in myoblast proliferation, differentiation or gene expression were related to CC vs. TT carriers. Our findings suggest that the VDR polymorphism TaqI rs731236 comparing CC vs. TT carriers did not influence the effects of vitamin D on primary human myoblasts and that vitamin D inhibits myoblast proliferation and differentiation through key regulators of cell cycle progression. Future studies need to employ strategies to identify the primary responses of vitamin D that drive the cellular response towards quiescence.", "doi": "10.1530/EC-19-0194", "pmid": "31252402", "labels": {"National Genomics Infrastructure": "Service", "NGI Stockholm (Genomics Applications)": "Service", "NGI Stockholm (Genomics Production)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "EC-19-0194"}, {"db": "pmc", "key": "PMC6652245"}], "notes": [], "created": "2019-12-02T16:52:31.370Z", "modified": "2024-01-16T13:48:44.086Z"}, {"entity": "publication", "iuid": "9ccddd5dd5f34d5da01904719caa4f80", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9ccddd5dd5f34d5da01904719caa4f80.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9ccddd5dd5f34d5da01904719caa4f80"}}, "title": "A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.", "authors": [{"family": "Gudmundsson", "given": "Sanna", "initials": "S"}, {"family": "Anner\u00e9n", "given": "G\u00f6ran", "initials": "G"}, {"family": "Marcos-Alcalde", "given": "\u00cd\u00f1igo", "initials": "\u00cd"}, {"family": "Wilbe", "given": "Maria", "initials": "M"}, {"family": "Melin", "given": "Malin", "initials": "M", "orcid": "0000-0002-6589-2375", "researcher": {"href": "https://publications.scilifelab.se/researcher/190c3991975c43ec952a81df72292c9a.json"}}, {"family": "G\u00f3mez-Puertas", "given": "Paulino", "initials": "P"}, {"family": "Bondeson", "given": "Marie-Louise", "initials": "ML"}], "type": "case reports", "published": "2019-06-00", "journal": {"volume": "62", "issn": "1878-0849", "issue": "6", "pages": "103526", "title": "Eur J Med Genet", "issn-l": "1769-7212"}, "abstract": "Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder where 70% of clinically diagnosed patients harbor a variant in one of five CdLS associated cohesin proteins. Around 500 variants have been identified to cause CdLS, however only eight different alterations have been identified in the RAD21 gene, encoding the RAD21 cohesin complex component protein that constitute the link between SMC1A and SMC3 within the cohesin ring. We report a 15-month-old boy presenting with developmental delay, distinct CdLS-like facial features, gastrointestinal reflux in early infancy, testis retention, prominent digit pads and diaphragmatic hernia. Exome sequencing revealed a novel RAD21 variant, c.1774_1776del, p.(Gln592del), suggestive of CdLS type 4. Segregation analysis of the two healthy parents confirmed the variant as de novo and bioinformatic analysis predicted the variant as disease-causing. Assessment by in silico structural model predicted that the p.Gln592del variant results in a discontinued contact between RAD21-Lys591 and the SMC1A residues Glu1191 and Glu1192, causing changes in the RAD21-SMC1A interface. In conclusion, we report a patient that expands the clinical description of CdLS type 4 and presents with a novel RAD21 p.(Glu592del) variant that causes a disturbed RAD21-SMC1A interface according to in silco structural modeling.", "doi": "10.1016/j.ejmg.2018.08.007", "pmid": "30125677", "labels": {"Clinical Genomics Uppsala": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "S1769-7212(18)30189-7"}], "notes": [], "created": "2018-12-04T10:26:37.835Z", "modified": "2024-01-16T13:48:44.310Z"}]}