{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T02:30:57Z","timestamp":1784687457418,"version":"3.55.0"},"reference-count":38,"publisher":"SAGE Publications","issue":"7_suppl","license":[{"start":{"date-parts":[[2012,6,14]],"date-time":"2012-06-14T00:00:00Z","timestamp":1339632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:p>Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression of SMARCAL1 in all developing teeth, raising the possibility that the malformations are cell-autonomous consequences of SMARCAL1 deficiency. We also found that stimulation of cultured skin fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4, and TGF\u03b21 identified altered transcriptional responses, raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. To the best of our knowledge, this is the first systematic study of the dental anomalies associated with SIOD.<\/jats:p>","DOI":"10.1177\/0022034512450299","type":"journal-article","created":{"date-parts":[[2012,6,14]],"date-time":"2012-06-14T14:07:10Z","timestamp":1339682830000},"page":"S29-S37","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":28,"title":["Dental Abnormalities in Schimke Immuno-osseous Dysplasia"],"prefix":"10.1177","volume":"91","author":[{"given":"M.","family":"Morimoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada"},{"name":"Rare Disease Foundation, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"K\u00e9rour\u00e9dan","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Europ\u00e9enne de Bretagne, Universit\u00e9 de Rennes 1 and Centre Hospitalier Universitaire de Rennes, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gendronneau","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Europ\u00e9enne de Bretagne, Universit\u00e9 de Rennes 1 and Centre Hospitalier Universitaire de Rennes, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Shuen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada"},{"name":"Rare Disease Foundation, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Baradaran-Heravi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada"},{"name":"Rare Disease Foundation, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Asakura","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Kanagawa Children\u2019s Medical Center, Yokohama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Basiratnia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Nephro-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Bogdanovi\u0107","sequence":"additional","affiliation":[{"name":"Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Bonneau","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Centre Hopitalier Universitaire d\u2019Angers, Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Buck","sequence":"additional","affiliation":[{"name":"Medizinische Hochschule Hannover, Kinderklinik, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Charrow","sequence":"additional","affiliation":[{"name":"Children\u2019s Memorial Hospital, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Cochat","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares, Hospices Civils de Lyon and Universit\u00e9 de Lyon, Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.A.","family":"DeHaai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.S.","family":"Fenk\u00e7i","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology and Metabolism, Cerrahi Hospital, Denizli, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Frange","sequence":"additional","affiliation":[{"name":"Pediatric Immunology & Hematology Unit, Necker Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Fr\u00fcnd","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Pediatric Nephrology, University Children\u2019s Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Fryssira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Aghia Sophia Children\u2019s Hospital, Athens University Medical School, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Keller","sequence":"additional","affiliation":[{"name":"Oregon Institute on Disability & Development, Child Development and Rehabilitation Center, Oregon Health & Science University, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kirmani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kobelka","sequence":"additional","affiliation":[{"name":"Genetics Department, Kaiser Permanente Medical Group, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kohler","sequence":"additional","affiliation":[{"name":"Park Dental Ridges, Burnsville, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.B.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Immunology Program and Institute for Immunity, Transplantation, and Infection, Stanford University, Palo Alto, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Massella","sequence":"additional","affiliation":[{"name":"Divison of Nephrology, Bambino Ges\u00f9 Children\u2019s Hospital and Research Institute, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.R.","family":"McLeod","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Alberta Children\u2019s Hospital, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.V.","family":"Milford","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Birmingham Children\u2019s Hospital, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Nobili","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie P\u00e9diatrique, Centre Hospitalier Universitaire de Besan\u00e7on, Besan\u00e7on, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.H.","family":"Olney","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.N.","family":"Semerci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Pamukkale University Hospital, Denizli, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Staji\u0107","sequence":"additional","affiliation":[{"name":"Institute of Mother and Child Healthcare of Serbia, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Stein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Children\u2019s Hospital Essen, Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Taque","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, Centre Hospitalier Universitaire de Fontenoy, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zonana","sequence":"additional","affiliation":[{"name":"Oregon Institute on Disability & Development, Child Development and Rehabilitation Center, Oregon Health & Science University, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Children\u2019s Hospital, Ruhr-University Bochum, Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Hendson","sequence":"additional","affiliation":[{"name":"Rare Disease Foundation, Vancouver, BC, Canada"},{"name":"Department of Anatomic Pathology, University of British Columbia and Children\u2019s and Women\u2019s Health Centre of British Columbia, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bonnaure-Mallet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Europ\u00e9enne de Bretagne, Universit\u00e9 de Rennes 1 and Centre Hospitalier Universitaire de Rennes, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada"},{"name":"Rare Disease Foundation, Vancouver, BC, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2012,6,14]]},"reference":[{"key":"bibr1-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.02.012"},{"key":"bibr2-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1242\/dev.054668"},{"key":"bibr3-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1839909"},{"key":"bibr4-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds083"},{"key":"bibr5-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1101\/gad.178459.111"},{"key":"bibr6-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050001"},{"key":"bibr7-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1038\/ng821"},{"key":"bibr8-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1832309"},{"key":"bibr9-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.044313"},{"key":"bibr10-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20432"},{"key":"bibr11-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000717)93:2<158::AID-AJMG14>3.0.CO;2-4"},{"key":"bibr12-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31089"},{"key":"bibr13-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.36.032902.111815"},{"key":"bibr14-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-008-0655-z"},{"key":"bibr15-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00322-6"},{"key":"bibr16-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30692"},{"key":"bibr17-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.10.016"},{"key":"bibr18-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"bibr19-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-004-1426-z"},{"key":"bibr20-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00458-6"},{"key":"bibr21-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.109147"},{"key":"bibr22-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-142X.2005.05048.x"},{"key":"bibr23-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.048330"},{"key":"bibr24-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90574-6"},{"key":"bibr25-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90400-4"},{"key":"bibr26-0022034512450299","first-page":"164","volume":"84","author":"Sclare R","year":"1948","journal-title":"Br Dent J"},{"key":"bibr27-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9969(73)90075-7"},{"key":"bibr28-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81040-6"},{"key":"bibr29-0022034512450299","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1002\/dvdy.22106","volume":"239","author":"Suomalainen M","year":"2010","journal-title":"Dev Dyn"},{"key":"bibr30-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1177\/08959374010150010401"},{"key":"bibr31-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1177\/08959374010150010801"},{"key":"bibr32-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1242\/dev.113.3.985"},{"key":"bibr33-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(05)80083-2"},{"key":"bibr34-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1177\/154405910308200305"},{"key":"bibr35-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1836409"},{"key":"bibr36-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1126\/science.1161233"},{"key":"bibr37-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1831509"},{"key":"bibr38-0022034512450299","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10404"}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034512450299","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0022034512450299","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034512450299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:03:25Z","timestamp":1777496605000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0022034512450299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,14]]},"references-count":38,"journal-issue":{"issue":"7_suppl","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1177\/0022034512450299"],"URL":"https:\/\/doi.org\/10.1177\/0022034512450299","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,14]]}}}