{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:58:56Z","timestamp":1790251136668,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,8]],"date-time":"2015-04-08T00:00:00Z","timestamp":1428451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Disabling mutations in integrin\u2010mediated cell signaling have been a major focus of interest over the last decade for patients affected with leukocyte adhesion deficiency\u2010III (LAD\u2010III). In this study, we identified a new C&gt;T point mutation in exon 13 in the <jats:italic>FERMT3<\/jats:italic> gene in an infant diagnosed with LAD\u2010III and showed that KINDLIN\u20103 expression is required for platelet aggregation and leukocyte function, but also osteoclast\u2010mediated bone resorption. After allogeneic bone marrow transplant, all overt symptoms disappeared. This newly identified mutation along with its novel role in dysregulation of bone homeostasis extends our understanding of <jats:italic>KINDLIN\u20103<\/jats:italic> in humans. Pediatr Blood Cancer 2015;62:1677\u20131679. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25537","type":"journal-article","created":{"date-parts":[[2015,4,8]],"date-time":"2015-04-08T16:15:02Z","timestamp":1428509702000},"page":"1677-1679","source":"Crossref","is-referenced-by-count":31,"title":["A new mutation in the <i>KINDLIN\u20103<\/i> gene ablates integrin\u2010dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency\u2010III"],"prefix":"10.1002","volume":"62","author":[{"given":"Roman","family":"Crazzolara","sequence":"first","affiliation":[{"name":"Department for Pediatrics Medical University Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Maurer","sequence":"additional","affiliation":[{"name":"Department for Pediatrics Medical University Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Schulze","sequence":"additional","affiliation":[{"name":"Department of Experimental Biomedicine University Hospital University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Zieger","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center Freiburg Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Zustin","sequence":"additional","affiliation":[{"name":"Institute of Pathology University of M\u00fcnster M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ansgar S.","family":"Schulz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,8]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-10-182154"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20070058"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1917"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22386"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1931"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201007141"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-08-238709"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH09-10-0689"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-008-9226-z"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2009.160"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000000228"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.25537","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.25537","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.25537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T05:22:52Z","timestamp":1696396972000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.25537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,8]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/pbc.25537"],"URL":"https:\/\/doi.org\/10.1002\/pbc.25537","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,8]]}}}