@article{3155829,
    title = "Dental Abnormalities in Schimke Immuno-osseous Dysplasia",
    author = "Morimoto, M. and Kerouredan, O. and Gendronneau, M. and Shuen, C. and and Baradaran-Heravi, A. and Asakura, Y. and Basiratnia, M. and Bogdanovic, and R. and Bonneau, D. and Buck, A. and Charrow, J. and Cochat, P. and and DeHaai, K. A. and Fenkci, M. S. and Frange, P. and Fruend, S. and and Fryssira, H. and Keller, K. and Kirmani, S. and Kobelka, C. and Kohler, and K. and Lewis, D. B. and Massella, L. and McLeod, D. R. and Milford, D. and V. and Nobili, F. and Olney, A. H. and Semerci, C. N. and Stajic, N. and and Stein, A. and Taque, S. and Zonana, J. and Luecke, T. and Hendson, G. and and Bonnaure-Mallet, M. and Boerkoel, C. F.",
    journal = "JOURNAL  OF  DENTAL  RESEARCH",
    year = "2012",
    volume = "91",
    number = "7, 1",
    pages = "S29-S37",
    publisher = "SAGE Publications Inc.",
    issn = "0022-0345",
    doi = "10.1177/0022034512450299",
    keywords = "SMARCAL1; tooth morphogenesis; microdontia; hypodontia; molar root
hypoplasia; cell signaling",
    abstract = "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 beta 1 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."
}