PL EN
PRACA ORYGINALNA
Mutacje w genie kodującym białko sialofosforowe zębiny (DSPP) nie zawsze skutkujące fenotypem dentinogenesis imperfecta typu II bądź dysplazją zębiny
 
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Ukryj
1
Medical University of Gdańsk
 
 
Prosthodontics 2013;63(1):5-13
 
SŁOWA KLUCZOWE
 
REFERENCJE (25)
1.
Bixler D., Conneally P. M., Christen G.: Dentinogenesis imperfecta: genetic variations in a six-generation family. J. Dent. Res., 1969, 48: 1196-1199.
 
2.
Witkop C. J., Maclean P. J., Schmidt J. L.: Medical and dental findings in the Brandywine isolate. Ala. J. Med. Sci., 1966, 3, 382-403.
 
3.
Beattie M. L., Kim J. W., Gong S. G., Murdoch-Kinach C. A., Simmer J. P., Hu J. C.: Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J. Dent. Res., 2006, 85,3x29-333.
 
4.
Kim J. W., Simmer J. P.: Hereditary dentin defects. J. Dent. Res., 2007, 86, 392-399.
 
5.
Acevedo A. C., Santos L. J., Paula L. M., Dong J., McDougall M.: Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. Cells Tissues Organs, 2009, 189, 230-236.
 
6.
McDougall M., Dong J., Acevedo A. C.: Molecular basis of human dentin diseases. Am. J. Med. Genet., 2006, 140, 2536-2546.
 
7.
Mcdonnell S. T., Mackie I., Dixon M. J.: Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet. J. Rare Dis., 2008, 3, 31.
 
8.
Sambrook J., Fritsch E. F., Maniatis T.: Molecular Cloning: A laboratory manual, 2nd Edition. Cold Spring Harbor Press, New York, 1989.
 
9.
McKnight D. A., Hart P. S., Hart T. C., Hartsfield J. K., Wilson A., Wright J. T., Fisher L. W.: A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum. Mutat., 2008, 29, 1392-1404.
 
10.
Bai H., Agula H., Wu Q., Zhou W., Sun Y.: A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. BMC Med. Genet., 2010, 11, 23.
 
11.
von Marshall Z., Fisher L. W.: Dentin sialophosphoprotein (DSPP) is cleaved into its two natural dentin matrix products by three isoforms of bone morphogenetic protein-1 (BMP1). Matrix. Biol., 2010, 29, 295-303.
 
12.
Suzuki S.: Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. Matrix. Biol., 2009, 28, 221-229.
 
13.
Yamakoshi Y., Hu J. C., Fukae M., Zhang H., Simmer J. P.: Dentin glycoprotein: the protein in the middle of the dentin sialophosphoprotein chimera. J. Biol. Chem., 2005, 280, 17472- 17479.
 
14.
Milan A. M., Sugars R.V., Embery G., Waddington R. J.: Modulation of collagen fibrillogenesis by dentinal proteoglycans. Calcif. Tissue Int., 2005, 76, 127-135.
 
15.
McDoguall M., Simmons D., Luan X., Gu T. T., Dupont B. R.: Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI 2 locus on human chromosome 4 band q21.3 by in situ hybridization. Cytogenet. Cell Genet., 1997, 79, 121-122.
 
16.
Song Y., Wang C., Peng B., Ye X., Zhao G., Fan M., Fu Q., Bian Z.: Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral Surgery Oral Medicine, Oral Pathology, Oral Radiolology and Endodontics, 2006, 102, 360-374.
 
17.
Xiao S., Yu C., Chou X., Yuan W., Wang Y., Bu L., Fu G., Qian M., Yang J., Shi Y., Hu L., Han B., Wang Z., Huang W., Liu J., Chen Z., Zhao G., Kong X.: Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat. Genet., 2001, 27, 201-204.
 
18.
Nieminen P., Papagiannoulis-Lascarides L., Waltimo-Siren J., Ollila P., Karjalainen S., Arte S., Veerkamp J., Walton V., Kustner E. C., Siltanen T., Holappa H., Lukinmaa P. L., Alaluusua S.: Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location. J. Bone. Miner. Res., 2011, 26, 873-880.
 
19.
Yamakoshi Y.: Dentinogenesis and Dentin Sialophosphoprotein (DSPP). J. Oral Biosci., 2009, 51, 134.
 
20.
George A., Bannon L., Sabsay B., Dillon J. W., Malone J., Veis A., Jenkins N. A., Gilbert D. J., Copeland N. D.: The carboxyl-terminal domain of phosphophoryn contains unique extended triplet amino acid repeat sequences forming ordered carboxyl-phosphate interaction ridges that may be essential in the biomineralization process. J. Biol. Chem., 1996, 271, 32869-32873.
 
21.
Boskey A., Spevak L., Tan M., Doty S. B., Butler W. T.: Dentin Sialoprotein (DSP) has limited effects on in vitro apatite formation and growth. Calcif. Tissue Int., 2000, 67, 472- 478.
 
22.
Butler W. T., Rietchie H. H., Bronckers A. L.: Extracellular matrix proteins of dentine. Ciba Found Symp., 1997, 205, 107-115.
 
23.
Fedarko N. S, Jain A., Karadag A., Fisher L. W.: Three small integrin binding ligand N-linked glycoproteins (SIBLINGs) bind and activate specific matrix metalloproteinases. FASEB J., 2004, 18, 734-736.
 
24.
Fisher L. W., Fedarko N. S.: Six genes expressed in bones and teeth encode the current members of the SIBLING family of proteins. Connect Tissue Res., 2003, 44 Suppl., 1, 33- 40.
 
25.
McKnight D. A., Simmer J. P., Hart P. S., Hart T. C., Fisher L. W.: Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J. Dent. Res., 2008, 87, 1108- 1111.
 
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