{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T03:38:19Z","timestamp":1777347499251,"version":"3.51.4"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,6,29]],"date-time":"2023-06-29T00:00:00Z","timestamp":1687996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19K09617"],"award-info":[{"award-number":["19K09617"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K09371"],"award-info":[{"award-number":["22K09371"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007951","name":"Tokyo Medical and Dental University","doi-asserted-by":"publisher","award":["2020\u2010Dx"],"award-info":[{"award-number":["2020\u2010Dx"]}],"id":[{"id":"10.13039\/501100007951","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007951","name":"Tokyo Medical and Dental University","doi-asserted-by":"publisher","award":["2021\u2010D31"],"award-info":[{"award-number":["2021\u2010D31"]}],"id":[{"id":"10.13039\/501100007951","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Gorham\u2013Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in\n                    <jats:italic>KRAS<\/jats:italic>\n                    . However, in the present study, we encountered a case of GSD from a consanguineous family member. Whole\u2010exome sequencing (WES) analysis focusing on rare recessive variants with zero homozygotes in population databases identified a homozygous missense variant (c.823G\u2009&gt;\u2009C, p.Asp275His) in gasdermin D (\n                    <jats:italic>GSDMD<\/jats:italic>\n                    ) in the patient and heterozygous in his unaffected brother. Because this variant affects the Asp275 residue that is involved in proteolytic cleavage by caspase\u201011 (as well as \u20104 and\u2009\u20105) to generate an activating p30 fragment required for pyroptotic cell death and proinflammation, we confirmed the absence of this cleavage product in peripheral monocytic fractions from the patient. A recent study indicated that a shorter p20 fragment, generated by further cleavage at Asp88, has a cell\u2010autonomous function to suppress the maturation of osteoclasts to resorb bone matrix. Thus, the present study suggests for the first time the existence of hereditary GSD cases or novel GSD\u2010like diseases caused by\n                    <jats:italic>GSDMD<\/jats:italic>\n                    deficiency. \u00a9 2023 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10784","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T00:55:20Z","timestamp":1688086520000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a Biallelic Missense Variant in Gasdermin\n                    <scp>D<\/scp>\n                    (\n                    <scp>c.823G\u2009&gt;\u2009C, p.Asp275His<\/scp>\n                    ) in a Patient of Atypical\n                    <scp>Gorham\u2010Stout<\/scp>\n                    Disease in a Consanguineous Family"],"prefix":"10.1093","volume":"7","author":[{"given":"Daniela Tiaki","family":"Uehara","sequence":"first","affiliation":[{"name":"Department of Molecular Cytogenetics Medical Research Institute, Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoki","family":"Muramatsu","sequence":"additional","affiliation":[{"name":"Department of Molecular Cytogenetics Medical Research Institute, Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senichi","family":"Ishii","sequence":"additional","affiliation":[{"name":"Saku Central Hospital Advanced Care Center  Saku Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetsugu","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Saku Central Hospital Advanced Care Center  Saku 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