{"entity": "researcher", "timestamp": "2026-09-23T21:52:27.880Z", "family": "\u00d6hman-M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "affiliations": ["Department of Materials Science and Engineering, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6"}}, "publications": [{"entity": "publication", "iuid": "013eba90f1b44c1e9ff78ae3386892c3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/013eba90f1b44c1e9ff78ae3386892c3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/013eba90f1b44c1e9ff78ae3386892c3"}}, "title": "The role of Gdf5 in the development of the zebrafish fin endoskeleton.", "authors": [{"family": "Waldmann", "given": "Laura", "initials": "L", "orcid": "0000-0002-3619-0796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7053118951d4bbda72058715017046a.json"}}, {"family": "Leyhr", "given": "Jake", "initials": "J", "orcid": "0000-0003-1815-7818", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ef7593be56994fd1be56b71b4b5df820.json"}}, {"family": "Zhang", "given": "Hanqing", "initials": "H"}, {"family": "Allalou", "given": "Amin", "initials": "A"}, {"family": "\u00d6hman-M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}}, {"family": "Haitina", "given": "Tatjana", "initials": "T", "orcid": "0000-0002-8754-5534", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7eeca9472b8e4f29b8f62819946cf1bf.json"}}], "type": "journal article", "published": "2022-09-00", "journal": {"title": "Dev. Dyn.", "issn": "1097-0177", "volume": "251", "issue": "9", "pages": "1535-1549", "issn-l": "1058-8388"}, "abstract": "The development of the vertebrate limb skeleton requires a complex interaction of multiple factors to facilitate the correct shaping and positioning of bones and joints. Growth and differentiation factor 5 (Gdf5) is involved in patterning appendicular skeletal elements including joints. Expression of gdf5 in zebrafish has been detected in fin mesenchyme condensations and segmentation zones as well as the jaw joint, however, little is known about the functional role of Gdf5 outside of Amniota.\n\nWe generated CRISPR/Cas9 knockout of gdf5 in zebrafish and analyzed the resulting phenotype at different developmental stages. Homozygous gdf5 mutant zebrafish displayed changes in segmentation of the endoskeletal disc and, as a consequence, loss of posterior radials in the pectoral fins. Mutant fish also displayed disorganization and reduced length of endoskeletal elements in the median fins, while joints and mineralization seemed unaffected.\n\nOur study demonstrates the importance of Gdf5 in the development of the zebrafish pectoral and median fin endoskeleton and reveals that the severity of the effect increases from anterior to posterior elements. Our findings are consistent with phenotypes observed in the human and mouse appendicular skeleton in response to Gdf5 knockout, suggesting a broadly conserved role for Gdf5 in Osteichthyes.", "doi": "10.1002/dvdy.399", "pmid": "34242444", "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T12:13:20.695Z", "modified": "2026-09-23T12:13:20.854Z"}, {"entity": "publication", "iuid": "b133fe25e23448d59edc6b20d0a38b30", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b133fe25e23448d59edc6b20d0a38b30.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b133fe25e23448d59edc6b20d0a38b30"}}, "title": "Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development.", "authors": [{"family": "Habicher", "given": "Judith", "initials": "J", "orcid": "0000-0002-8691-8650", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4788622ebc424f4e96c8100b99b2294a.json"}}, {"family": "Varshney", "given": "Gaurav K", "initials": "GK", "orcid": "0000-0002-0429-1904", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/427982d66baf4bfab438a1766071036d.json"}}, {"family": "Waldmann", "given": "Laura", "initials": "L", "orcid": "0000-0002-3619-0796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7053118951d4bbda72058715017046a.json"}}, {"family": "Snitting", "given": "Daniel", "initials": "D", "orcid": "0000-0001-9704-6336", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7947d4b34495440cb4b0acdbf49bfffb.json"}}, {"family": "Allalou", "given": "Amin", "initials": "A", "orcid": "0000-0003-4028-8443", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48a26837e4ce48dfada540aa1dbd23cf.json"}}, {"family": "Zhang", "given": "Hanqing", "initials": "H"}, {"family": "Ghanem", "given": "Abdurrahman", "initials": "A", "orcid": "0000-0002-4388-6222", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71ba79d7402b477ba257510c62900d3b.json"}}, {"family": "\u00d6hman M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}}, {"family": "Dierker", "given": "Tabea", "initials": "T", "orcid": "0000-0003-1991-2723", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c9ff3f39bc9b48a08cb0f0ad2583f487.json"}}, {"family": "Kjell\u00e9n", "given": "Lena", "initials": "L"}, {"family": "Burgess", "given": "Shawn M", "initials": "SM", "orcid": "0000-0003-1147-0596", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/68cb29ca7d284d7292a0793852d86598.json"}}, {"family": "Ledin", "given": "Johan", "initials": "J", "orcid": "0000-0002-7319-7735", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08f88f10e2de4379ac9114baf4bddd3d.json"}}], "type": "journal article", "published": "2022-02-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "18", "issue": "2", "pages": "e1010067", "issn-l": "1553-7390"}, "abstract": "Chondroitin/dermatan sulfate (CS/DS) proteoglycans are indispensable for animal development and homeostasis but the large number of enzymes involved in their biosynthesis have made CS/DS function a challenging problem to study genetically. In our study, we generated loss-of-function alleles in zebrafish genes encoding CS/DS biosynthetic enzymes and characterized the effect on development in single and double mutants. Homozygous mutants in chsy1, csgalnact1a, csgalnat2, chpfa, ust and chst7, respectively, develop to adults. However, csgalnact1a-/- fish develop distinct craniofacial defects while the chsy1-/- skeletal phenotype is milder and the remaining mutants display no gross morphological abnormalities. These results suggest a high redundancy for the CS/DS biosynthetic enzymes and to further reduce CS/DS biosynthesis we combined mutant alleles. The craniofacial phenotype is further enhanced in csgalnact1a-/-;chsy1-/- adults and csgalnact1a-/-;csgalnact2-/- larvae. While csgalnact1a-/-;csgalnact2-/- was the most affected allele combination in our study, CS/DS is still not completely abolished. Transcriptome analysis of chsy1-/-, csgalnact1a-/- and csgalnact1a-/-;csgalnact2-/- larvae revealed that the expression had changed in a similar way in the three mutant lines but no differential expression was found in any of fifty GAG biosynthesis enzymes identified. Thus, zebrafish larvae do not increase transcription of GAG biosynthesis genes as a consequence of decreased CS/DS biosynthesis. The new zebrafish lines develop phenotypes similar to clinical characteristics of several human congenital disorders making the mutants potentially useful to study disease mechanisms and treatment.", "doi": "10.1371/journal.pgen.1010067", "pmid": "35192612", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8896900"}, {"db": "pii", "key": "PGENETICS-D-21-00836"}], "notes": [], "created": "2026-09-23T12:17:33.422Z", "modified": "2026-09-23T12:17:33.586Z"}, {"entity": "publication", "iuid": "043bdd0597874ddda63bc525e425cef6", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/043bdd0597874ddda63bc525e425cef6.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/043bdd0597874ddda63bc525e425cef6"}}, "title": "The role of Gdf5 in the development of the zebrafish fin endoskeleton", "authors": [{"family": "Waldmann", "given": "Laura", "initials": "L", "orcid": "0000-0002-3619-0796", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7053118951d4bbda72058715017046a.json"}}, {"family": "Leyhr", "given": "Jake", "initials": "J", "orcid": "0000-0003-1815-7818", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ef7593be56994fd1be56b71b4b5df820.json"}}, {"family": "Zhang", "given": "Hanqing", "initials": "H"}, {"family": "Allalou", "given": "Amin", "initials": "A"}, {"family": "\u00d6hman-M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}}, {"family": "Haitina", "given": "Tatjana", "initials": "T", "orcid": "0000-0002-8754-5534", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7eeca9472b8e4f29b8f62819946cf1bf.json"}}], "type": "posted-content", "published": "2021-01-31", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2021.01.31.428959", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T14:31:43.271Z", "modified": "2026-09-23T14:31:43.314Z"}, {"entity": "publication", "iuid": "b370171d2ec44238b76097dad52011fb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b370171d2ec44238b76097dad52011fb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b370171d2ec44238b76097dad52011fb"}}, "title": "The Broad Role of Nkx3.2 in the Development of the Zebrafish Axial Skeleton", "authors": [{"family": "Waldmann", "given": "Laura", "initials": "L"}, {"family": "Leyhr", "given": "Jake", "initials": "J"}, {"family": "Zhang", "given": "Hanqing", "initials": "H"}, {"family": "\u00d6hman-M\u00e4gi", "given": "Caroline", "initials": "C", "orcid": "0000-0003-2709-9541", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbc858437bd45f79964add760b31bf6.json"}}, {"family": "Allalou", "given": "Amin", "initials": "A"}, {"family": "Haitina", "given": "Tatjana", "initials": "T", "orcid": "0000-0002-8754-5534", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7eeca9472b8e4f29b8f62819946cf1bf.json"}}], "type": "posted-content", "published": "2020-12-30", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2020.12.30.424496", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T14:31:16.759Z", "modified": "2026-09-23T14:31:16.811Z"}]}