{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T17:11:42Z","timestamp":1775927502231,"version":"3.50.1"},"reference-count":36,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"am","delay-in-days":503,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Biomedical Research Council A*STAR","award":["BMRC-A*STAR-EDB IAF-PP, H17\/01\/a0\/004"],"award-info":[{"award-number":["BMRC-A*STAR-EDB IAF-PP, H17\/01\/a0\/004"]}]},{"name":"Acne and Sebaceous Gland Program","award":["H17\/01\/a0\/008"],"award-info":[{"award-number":["H17\/01\/a0\/008"]}]},{"DOI":"10.13039\/501100001348","name":"A*STAR","doi-asserted-by":"crossref","award":["A*STAR Research Attachment Programme"],"award-info":[{"award-number":["A*STAR Research Attachment Programme"]}],"id":[{"id":"10.13039\/501100001348","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Frank-Ter Haar syndrome (FTHS, MIM #249420) is a rare skeletal dysplasia within the Defective Collagen Remodelling Spectrum (DECORS), which is characterised by craniofacial abnormalities, skeletal malformations and fibrotic soft tissues changes including dermal fibrosis and joint contractures. FTHS is caused by homozygous or compound heterozygous loss-of-function mutation or deletion of SH3PXD2B (Src homology 3 and Phox homology domain-containing protein 2B; MIM #613293). SH3PXD2B encodes an adaptor protein with the same name, which is required for full functionality of podosomes, specialised membrane structures involved in extracellular matrix (ECM) remodelling. The pathogenesis of DECORS is still incompletely understood and, as a result, therapeutic options are limited. We previously generated an mmp14a\/b knockout zebrafish and demonstrated that it primarily mimics the DECORS-related bone abnormalities. Here, we present a novel sh3pxd2b mutant zebrafish, pretzel, which primarily reflects the DECORS-related dermal fibrosis and contractures. In addition to relatively mild skeletal abnormalities, pretzel mutants develop dermal and musculoskeletal fibrosis, contraction of which seems to underlie grotesque deformations that include kyphoscoliosis, abdominal constriction and lateral folding. The discrepancy in phenotypes between mmp14a\/b and sh3pxd2b mutants suggests that in fish, as opposed to humans, there are differences in spatiotemporal dependence of ECM remodelling on either sh3pxd2b or mmp14a\/b. The pretzel model presented here can be used to further delineate the underlying mechanism of the fibrosis observed in DECORS, as well as screening and subsequent development of novel drugs targeting DECORS-related fibrosis.<\/jats:p>","DOI":"10.1242\/bio.054270","type":"journal-article","created":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T17:22:06Z","timestamp":1606238526000},"source":"Crossref","is-referenced-by-count":3,"title":["The novel zebrafish model <i>pretzel<\/i> demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome"],"prefix":"10.1242","author":[{"given":"Ivo J. H. M.","family":"de Vos","sequence":"first","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), 308232, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnette Shi Wei","family":"Wong","sequence":"additional","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), 308232, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2290-4209","authenticated-orcid":false,"given":"Jason","family":"Taslim","sequence":"additional","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), 308232, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7569-7944","authenticated-orcid":false,"given":"Sheena Li Ming","family":"Ong","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), 138648, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole C.","family":"Syder","sequence":"additional","affiliation":[{"name":"Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR), 308232, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3021-3184","authenticated-orcid":false,"given":"Julian L.","family":"Goggi","sequence":"additional","affiliation":[{"name":"Singapore Bioimaging Consortium (SBIC), Agency for Science, Technology and Research (A*STAR), 138667, Singapore"},{"name":"Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore (NUS), 117593, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2371-1924","authenticated-orcid":false,"given":"Thomas J.","family":"Carney","sequence":"additional","affiliation":[{"name":"Lee Kong Chian School of Medicine, Nanyang Technological University (NTU), 636921, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice A. 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