Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Journal of Dental Research

Volumn 91, Issue , 2012, Pages S29-S37

  Morimoto, M ^a,b   Kerouredan O ^c   Gendronneau, M ^c   Shuen, C ^a,b   Baradaran Heravi, A ^a,b   Asakura, Y ^d   Basiratnia, M ^e   Bogdanovic R ^f   Bonneau, D ^g   Buck, A ^h   Charrow, J ⁱ   Cochat, P ^j   Dehaai, K A ^k   Fenkci M S ^l   Frange, P ^m   Frund S ⁿ   Fryssira, H ^o   Keller, K ^p   Kirmani, S ^q   Kobelka, C ^r   Kohler, K ^s   Lewis, D B ^t   Massella, L ^u   Mcleod, D R ^v   Milford, D V ^w   Nobili, F ^x   Olney, A H ^k   Semerci, C N ^y   Stajic N ^f   Stein, A ^z   Taque, S ^aa   Zonana, J ^p   Lucke T ^ab   Hendson, G ^b,ac   Bonnaure Mallet, M ^c   Boerkoel, C F ^a,b   more..

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Rare Disease Foundation   (Canada)

^c UNIVERSITÉ EUROPÉENNE DE BRETAGNE   (France)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f Institute for Mother and Child Health Care   (Serbia)

^g UNIVERSITÉ D'ANGERS   (France)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ CHILDREN'S MEMORIAL HOSPITAL   (United States)

^j HOSPICES CIVILS DE LYON   (France)

^k UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^l Cerrahi Hospital   (Turkey)

^m HÔPITAL NECKER ENFANTS MALADES   (France)

ⁿ UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^o UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^p OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^q MAYO CLINIC   (United States)

^r KAISER PERMANENTE MEDICAL CENTER   (United States)

^s Park Dental Ridges   (United States)

^t STANFORD UNIVERSITY   (United States)

^u BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^v ALBERTA CHILDREN'S HOSPITAL   (Canada)

^w BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^x UNIVERSITY HOSPITAL OF BESANÇON   (France)

^y PAMUKKALE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^z UNIVERSITY HOSPITAL ESSEN   (Germany)

^aa RENNES UNIVERSITY HOSPITAL   (France)

^ab RUHR UNIVERSITY BOCHUM   (Germany)

^ac UNIVERSITY OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

cell signaling; hypodontia; microdontia; molar root hypoplasia; SMARCAL1; tooth morphogenesis

Indexed keywords

BMP4 PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN 4; HELICASE; SMARCAL1 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA1; WNT3A PROTEIN; WNT3A PROTEIN, HUMAN;

ALLELE; ARTERIOSCLEROSIS; ARTICLE; CELL CULTURE; CELL PROLIFERATION; CELL SURVIVAL; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; CULTURE TECHNIQUE; CYTOLOGY; DECIDUOUS TOOTH; FIBROBLAST; GENETIC TRANSCRIPTION; GENETICS; HUMAN; HYPODONTIA; IMMUNE DEFICIENCY; LUNG EMBOLISM; MOLAR TOOTH; MUTATION; NEPHROTIC SYNDROME; PATHOLOGY; PREMOLAR TOOTH; SKIN; TOOTH DEVELOPMENT; TOOTH FLORA; TOOTH MALFORMATION; TOOTH ROOT;

ALLELES; ANODONTIA; ARTERIOSCLEROSIS; BICUSPID; BONE MORPHOGENETIC PROTEIN 4; CELL CULTURE TECHNIQUES; CELL PROLIFERATION; CELL SURVIVAL; CELLS, CULTURED; DNA HELICASES; FIBROBLASTS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MOLAR; MUTATION; NEPHROTIC SYNDROME; ODONTOGENESIS; OSTEOCHONDRODYSPLASIAS; PULMONARY EMBOLISM; SKIN; TOOTH ABNORMALITIES; TOOTH GERM; TOOTH ROOT; TOOTH, DECIDUOUS; TRANSCRIPTION, GENETIC; TRANSFORMING GROWTH FACTOR BETA1; WNT3A PROTEIN;

EID: 84867916814     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034512450299     Document Type: Article

References (38)

1. Åberg T Wang XP Kim JH Yamashiro T Bei M Rice R. (2004). Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis. Dev Biol 270: 76-93.
2. Ahn Y Sanderson BW Klein OD Krumlauf R (2010). Inhibition of Wnt signaling by Wise (Sostdc1) and negative feedback from Shh controls tooth number and patterning. Development 137: 3221-3231.
3. Bansbach CE Betous R Lovejoy CA Glick GG Cortez D (2009). The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks. Genes Dev 23: 2405-2414.
4. Baradaran-Heravi A Cho KS Tolhuis B Sanyal M Morozova O Morimoto M. (2012). Penetrance of bi-allelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet [Epub ahead of print 3/13/2012] (in press).
5. Bétous R Mason AC Rambo RP Bansbach CE Badu-Nkansah A Sirbu BM. (2012). SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication. Genes Dev 26: 151-162.
6. Boerkoel CF O'Neill S Andre JL Benke PJ Bogdanovic R Bulla M. (2000). Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 159: 1-7.
7. Boerkoel CF Takashima H John J Yan J Stankiewicz P Rosenbarker L. (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 30: 215-220.
8. Ciccia A Bredemeyer AL Sowa ME Terret ME Jallepalli PV Harper JW. (2009). The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. Genes Dev 23: 2415-2425.
9. Clewing JM Antalfy BC Lucke T Najafian B Marwedel KM Hori A. (2007a). Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet 44: 122-130.
10. Clewing JM Fryssira H Goodman D Smithson SF Sloan EA Lou S. (2007b). Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 28: 273-283.
11. da Fonseca MA (2000). Dental findings in the Schimke immuno-osseous dysplasia. Am J Med Genet 93: 158-160.
12. Elizondo LI Huang C Northrop JL Deguchi K Clewing JM Armstrong DL. (2006). Schimke immuno-osseous dysplasia: a cell autonomous disorder? Am J Med Genet A 140: 340-348.
13. Hatfield GW Benham CJ (2002). DNA topology-mediated control of global gene expression in Escherichia coli. Annu Rev Genet 36: 175-203.
14. Hosoya A Kim JY Cho SW Jung HS (2008). BMP4 signaling regulates formation of Hertwig's epithelial root sheath during tooth root development. Cell Tissue Res 333: 503-509.
15. Jernvall J Thesleff I (2000). Reiterative signaling and patterning during mammalian tooth morphogenesis. Mech Dev 92: 19-29.
16. Kilic SS Donmez O Sloan EA Elizondo LI Huang C Andre JL. (2005). Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet A 135: 206-210.
17. Liu F Chu EY Watt B Zhang Y Gallant NM Andl T. (2008). Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol 313: 210-224.
18. Livak KJ Schmittgen TD (2001). Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCt method. Methods 25: 402-408.
19. Lücke T Marwedel KM Kanzelmeyer NK Hori A Offner G Kreipe HH. (2004). Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol 19: 672-675.
20. Luukko K Loes S Furmanek T Fjeld K Kvinnsland IH Kettunen P (2003). Identification of a novel putative signaling center, the tertiary enamel knot in the postnatal mouse molar tooth. Mech Dev 120: 270-276.
21. Petty EM Yanik GA Hutchinson RJ Alter BP Schmalstieg FC Levine JE. (2000). Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia. J Pediatr 137: 882-886.
22. Plikus MV Zeichner-David M Mayer JA Reyna J Bringas P Thewissen JG. (2005). Morphoregulation of teeth: modulating the number, size, shape and differentiation by tuning Bmp activity. Evol Dev 7: 440-457.
23. Postow L Woo EM Chait BT Funabiki H (2009). Identification of SMARCAL1 as a component of the DNA damage response. J Biol Chem 284: 35951-35961.
24. Pruss GJ Drlica K (1989). DNA supercoiling and prokaryotic transcription. Cell 56: 521-523.
25. Schimke RN Horton WA King CR (1971). Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet 2: 1088-1089.
26. Sclare R (1948). Hereditary opalescent dentine. Br Dent J 84: 164-166.
27. Shields ED Bixler D el-Kafrawy AM (1973). A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 18: 543-553.
28. Spranger J Hinkel GK Stoss H Thoenes W Wargowski D Zepp F (1991). Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 119(1 Pt 1):64-72.
29. Suomalainen M Thesleff I (2010). Patterns of Wnt pathway activity in the mouse incisor indicate absence of Wnt/beta-catenin signaling in the epithelial stem cells. Dev Dyn 239: 364-372.
30. Thesleff I Keranen S Jernvall J (2001). Enamel knots as signaling centers linking tooth morphogenesis and odontoblast differentiation. Adv Dent Res 15: 14-18.
31. Unda FJ Martin A Hernandez C Perez-Nanclares G Hilario E Arechaga J (2001). FGFs-1 and -2, and TGF beta 1 as inductive signals modulating in vitro odontoblast differentiation. Adv Dent Res 15: 34-37.
32. Vaahtokari A Vainio S Thesleff I (1991). Associations between transforming growth factor beta 1 RNA expression and epithelial-mesenchymal interactions during tooth morphogenesis. Development 113: 985-994.
33. Vainio S Karavanova I Jowett A Thesleff I (1993). Identification of BMP-4 as a signal mediating secondary induction between epithelial and mesenchymal tissues during early tooth development. Cell 75: 45-58.
34. Yamashiro T Tummers M Thesleff I (2003). Expression of bone morphogenetic proteins and Msx genes during root formation. J Dent Res 82: 172-176.
35. Yuan J Ghosal G Chen J (2009). The annealing helicase HARP protects stalled replication forks. Genes Dev 23: 2394-2399.
36. Yusufzai T Kadonaga JT (2008). HARP is an ATP-driven annealing helicase. Science 322: 748-750.
37. Yusufzai T Kong X Yokomori K Kadonaga JT (2009). The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA. Genes Dev 23: 2400-2404.
38. Zeichner-David M Oishi K Su Z Zakartchenko V Chen LS Arzate H. (2003). Role of Hertwig's epithelial root sheath cells in tooth root development. Dev Dyn 228: 651-663.