{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T03:09:46Z","timestamp":1762916986138},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7519,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ehlers\u2010Danlos syndrome type IV (EDS IV) is characterized by variable changes in the skin, arterial fragility, bowel perforation, minimal joint involvement, and either autosomal recessive or autosomal dominant inheritance. The unifying biochemical abnormality is a deficiency of type III collagen; all patients studied thus far have shown a defect in either synthesis or in secretion of type III procollagen. We report on an adolescent boy who inherited EDS IV from his father and who developed a spontaneous subclavian artery aneurysm. <jats:styled-content>In vitro<\/jats:styled-content> studies of collagen production in dermal fibroblasts showed normal amounts of pro \u03b11 (III) messenger RNA and synthesis and secretion of nearly equal amounts of normal and of structurally abnormal pro \u03b11(III) monomers. This patient is biochemically distinct from previous cases of EDS IV and is likely heterozygous for a mutation that results in an aberrant type III procollagen that is particularly susceptible to protease degradation.<\/jats:p>","DOI":"10.1002\/ajmg.1320190328","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:47:06Z","timestamp":1118537226000},"page":"607-622","source":"Crossref","is-referenced-by-count":28,"title":["Ehlers\u2010Danlos syndrome IV due to a novel defect in type III procollagen"],"prefix":"10.1002","volume":"19","author":[{"given":"Reed E.","family":"Pyeritz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine A.","family":"Stolle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nollaig A.","family":"Parfrey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne C.","family":"Myers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00406537"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5552.612"},{"key":"e_1_2_1_4_1","first-page":"160","article-title":"Vascular complications in the Ehlers\u2010Danlos syndrome","volume":"13","author":"Barabas AP","year":"1972","journal-title":"J Cardiovasc Surg"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.29.3.332"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00291a023"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(79)91739-X"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0174-173X(81)80030-1"},{"key":"e_1_2_1_9_1","first-page":"336","article-title":": Altered secretion of type III procollagen in a form of type IV Ehlers\u2010Danlos syndrome","volume":"44","author":"Byers PH","year":"1981","journal-title":"Lab Invest"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273196"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.12.7745"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/304078a0"},{"key":"e_1_2_1_13_1","first-page":"971","article-title":"Lung collagen in type IV Ehlers\u2010Danlos syndrome: Ultrastructural and biochemical studies","volume":"122","author":"Clark JG","year":"1980","journal-title":"Am Rev Resp Dis"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(81)90341-7"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.1800570618"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1974.01360040070018"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.14.4524"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"9181","DOI":"10.1016\/S0021-9258(18)34258-3","article-title":"Structure and helical stability of a modified procollagen synthesized in the presence of 3,4\u2010dehydroproline","volume":"257","author":"Fiedler\u2010Nagy C","year":"1982","journal-title":"J Biol Chem"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/oxfordjournals.jbchem.a132544","article-title":"Separation of the \u03b1 chains of type I and type III collagen by SDS\u2010polyacrylamide gel electrophoresis","volume":"86","author":"Hayashi T","year":"1979","journal-title":"J Biochem"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)33605-7"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-8315-8_1"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(69)90210-1"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.64.1.121"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197901183000307"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1462-5822.2007.00901.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196412172712508"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.135.6.1153"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(82)90238-1"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1177\/003693306000500607","article-title":"Ehlers\u2010Danlos syndrome with a report of a fatal case","volume":"5","author":"Mories A","year":"1960","journal-title":"Scot Med J"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.6.3516"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.4.1314"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.3.200"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1177\/014107688007300305"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198408093110606"},{"key":"e_1_2_1_35_1","first-page":"191","article-title":"Cardiovascular manifestations of heritable disorders of connective tissue","volume":"5","author":"Pyeritz RE","year":"1983","journal-title":"Prog Med Genet"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)91577-5"},{"key":"e_1_2_1_37_1","first-page":"663","article-title":"Status dysvascularis: ein Fall von besonderer Zerreisslichkeit der Blutgef\u00e4sse","volume":"178","author":"Sack G","year":"1936","journal-title":"Dtsch Arch Klinmed"},{"key":"e_1_2_1_38_1","doi-asserted-by":"crossref","unstructured":"StolleCA PyeritzRE MyersJC ProckopDJ(1984): Synthesis of an altered type III procollagen in a patient with type IV Ehlers\u2010Danlos syndrome. A structural change in the \u03b1 1 (III) chain which makes the protein more susceptible to proteinases.J Biol Chemin press.","DOI":"10.1016\/S0021-9258(18)89682-X"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01990.x"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(76)80180-5"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.9.5201"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(72)80062-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190328","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T02:10:39Z","timestamp":1697767839000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,11]]},"references-count":41,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1984,11]]}},"alternative-id":["10.1002\/ajmg.1320190328"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190328","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,11]]}}}