{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:34:11Z","timestamp":1790040851613,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Vascular\u2010type Ehlers\u2013Danlos syndrome (vEDS) is an autosomal\u2010dominant inherited disorder caused by a deficit in collagen III. It results from heterogeneous mutations in the \u03b11 collagen III gene (<jats:italic>COL3A1<\/jats:italic>) and is associated with life\u2010threatening complications, even in younger patients. However, the details of the pathogenesis underlying the <jats:italic>COL3A1<\/jats:italic> mutation causing vEDS remain unclear. Here, we focus on anomalies in collagen fiber size and the endoplasmic reticulum (ER) stress response in patients with vEDS using electron microscopy (EM). We discovered that although the infants did not have vEDS, collagenous formations were similar to their samples in vEDS. Moreover, we examined the expression of activating transcription factor 6 (ATF6) as an ER stress marker and cartilage oligomeric matrix protein (COMP) as a binding partner protein for collagen fibrils in the dermis and <jats:italic>COL3A1<\/jats:italic>. The expression levels of <jats:italic>ATF6<\/jats:italic> in the vEDS group were significantly higher than in infants and controls; <jats:italic>COMP<\/jats:italic> and <jats:italic>COL3A1<\/jats:italic> levels were significantly lower. The fragile collagen fibrils in vEDS might form as a result of ER stress and that small, newly formed collagen fibrils may appear. This research revealed a novel prospect regarding an issue that has been unclear for a long time, which is the reason for the abnormal sizes of collagenous fibrils in vEDS.<\/jats:p>","DOI":"10.1111\/1346-8138.15766","type":"journal-article","created":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T20:40:06Z","timestamp":1612298406000},"page":"481-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Endoplasmic reticulum stress and collagenous formation anomalies in vascular\u2010type Ehlers\u2013Danlos syndrome via electron microscopy"],"prefix":"10.1111","volume":"48","author":[{"given":"Satoko","family":"Ishikawa","sequence":"first","affiliation":[{"name":"Department of Dermatology Dokkyo Medical University School of Medicine  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"},{"name":"Division of Clinical Sequence Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Research Center for Supports to Advanced Science Shinshu University  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Kaminaga","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dokkyo Medical University School of Medicine  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manabu","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University School of Medicine  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichiro","family":"Hamasaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dokkyo Medical University School of Medicine  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigemi","family":"Yoshihara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University School of Medicine  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6558-4818","authenticated-orcid":false,"given":"Shujiro","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dokkyo Medical University School of Medicine  Mibu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Igawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dokkyo Medical University School of Medicine  Mibu 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