-
1
-
-
77649100985
-
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
-
Bai H, Agula H, Wu Q et al (2010). A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. BMC Med Genet 11: 23.
-
(2010)
BMC Med Genet
, vol.11
, pp. 23
-
-
Bai, H.1
Agula, H.2
Wu, Q.3
-
3
-
-
33749519573
-
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II
-
Holappa H, Nieminen P, Tolva L, Lukinmaa PL, Alaluusua S (2006). Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. Eur J Oral Sci 114: 381-384.
-
(2006)
Eur J Oral Sci
, vol.114
, pp. 381-384
-
-
Holappa, H.1
Nieminen, P.2
Tolva, L.3
Lukinmaa, P.L.4
Alaluusua, S.5
-
4
-
-
73149083242
-
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family
-
Kida M, Tsutsumi T, Shindoh M, Ikeda H, Ariga T (2009). De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. Eur J Oral Sci 117: 691-694.
-
(2009)
Eur J Oral Sci
, vol.117
, pp. 691-694
-
-
Kida, M.1
Tsutsumi, T.2
Shindoh, M.3
Ikeda, H.4
Ariga, T.5
-
5
-
-
4344592119
-
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II
-
Kim JW, Nam SH, Jang KT et al (2004). A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 115: 248-254.
-
(2004)
Hum Genet
, vol.115
, pp. 248-254
-
-
Kim, J.W.1
Nam, S.H.2
Jang, K.T.3
-
6
-
-
19944431252
-
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II
-
Kim JW, Hu JC, Lee JI et al (2005). Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet 116: 186-191.
-
(2005)
Hum Genet
, vol.116
, pp. 186-191
-
-
Kim, J.W.1
Hu, J.C.2
Lee, J.I.3
-
7
-
-
56249142719
-
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia
-
Lee SK, Hu JC, Lee KE, Simmer JP, Kim JW (2008). A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J Endod 34: 1470-1473.
-
(2008)
J Endod
, vol.34
, pp. 1470-1473
-
-
Lee, S.K.1
Hu, J.C.2
Lee, K.E.3
Simmer, J.P.4
Kim, J.W.5
-
8
-
-
58949102839
-
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II
-
Lee SK, Lee KE, Jeon D et al (2009). A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. J Dent Res 88: 51-55.
-
(2009)
J Dent Res
, vol.88
, pp. 51-55
-
-
Lee, S.K.1
Lee, K.E.2
Jeon, D.3
-
9
-
-
79952216125
-
Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II
-
Lee KE, Kang HY, Lee SK et al (2011a). Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. Clin Genet 79: 378-384.
-
(2011)
Clin Genet
, vol.79
, pp. 378-384
-
-
Lee, K.E.1
Kang, H.Y.2
Lee, S.K.3
-
10
-
-
79952594086
-
Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation
-
Lee SK, Lee KE, Hwang YH et al (2011b). Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. Oral Dis 17: 314-319.
-
(2011)
Oral Dis
, vol.17
, pp. 314-319
-
-
Lee, S.K.1
Lee, K.E.2
Hwang, Y.H.3
-
11
-
-
0031021422
-
Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination
-
MacDougall M, Simmons D, Luan X, Nydegger J, Feng J, Gu TT (1997). Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination. J Biol Chem 272: 835-842.
-
(1997)
J Biol Chem
, vol.272
, pp. 835-842
-
-
MacDougall, M.1
Simmons, D.2
Luan, X.3
Nydegger, J.4
Feng, J.5
Gu, T.T.6
-
12
-
-
2542434141
-
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II
-
Malmgren B, Lindskog S, Elgadi A, Norgren S (2004). Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet 114: 491-498.
-
(2004)
Hum Genet
, vol.114
, pp. 491-498
-
-
Malmgren, B.1
Lindskog, S.2
Elgadi, A.3
Norgren, S.4
-
13
-
-
58149401847
-
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta
-
McKnight DA, Simmer JP, Hart PS, Hart TC, Fisher LW (2008a). Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res 87: 1108-1111.
-
(2008)
J Dent Res
, vol.87
, pp. 1108-1111
-
-
McKnight, D.A.1
Simmer, J.P.2
Hart, P.S.3
Hart, T.C.4
Fisher, L.W.5
-
14
-
-
56249097309
-
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene
-
McKnight DA, Suzanne Hart P, Hart TC et al (2008b). A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat 29: 1392-1404.
-
(2008)
Hum Mutat
, vol.29
, pp. 1392-1404
-
-
McKnight, D.A.1
Suzanne Hart, P.2
Hart, T.C.3
-
15
-
-
79953036876
-
Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location
-
Nieminen P, Papagiannoulis-Lascarides L, Waltimo-Siren J et al (2011). Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location. J Bone Miner Res 26: 873-880.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 873-880
-
-
Nieminen, P.1
Papagiannoulis-Lascarides, L.2
Waltimo-Siren, J.3
-
16
-
-
0036796408
-
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization
-
Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ (2002). Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 11: 2559-2565.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2559-2565
-
-
Rajpar, M.H.1
Koch, M.J.2
Davies, R.M.3
Mellody, K.T.4
Kielty, C.M.5
Dixon, M.J.6
-
17
-
-
0015612856
-
A proposed classification for heritable human dentine defects with a description of a new entity
-
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.
-
(1973)
Arch Oral Biol
, vol.18
, pp. 543-553
-
-
Shields, E.D.1
Bixler, D.2
el-Kafrawy, A.M.3
-
18
-
-
38949195105
-
Messenger RNA regulation: to translate or to degrade
-
Shyu AB, Wilkinson MF, van Hoof A (2008). Messenger RNA regulation: to translate or to degrade. EMBO J 27: 471-481.
-
(2008)
EMBO J
, vol.27
, pp. 471-481
-
-
Shyu, A.B.1
Wilkinson, M.F.2
van Hoof, A.3
-
20
-
-
47149110211
-
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population
-
Song YL, Wang CN, Fan MW, Su B, Bian Z (2008). Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J Med Genet 45: 457-464.
-
(2008)
J Med Genet
, vol.45
, pp. 457-464
-
-
Song, Y.L.1
Wang, C.N.2
Fan, M.W.3
Su, B.4
Bian, Z.5
-
21
-
-
0035136682
-
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP
-
Xiao S, Yu C, Chou X et al (2001). Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 27: 201-204.
-
(2001)
Nat Genet
, vol.27
, pp. 201-204
-
-
Xiao, S.1
Yu, C.2
Chou, X.3
-
22
-
-
0035134329
-
DSPP mutation in dentinogenesis imperfecta Shields type II
-
Zhang X, Zhao J, Li C et al (2001). DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 27: 151-152.
-
(2001)
Nat Genet
, vol.27
, pp. 151-152
-
-
Zhang, X.1
Zhao, J.2
Li, C.3
-
23
-
-
34848877727
-
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family
-
Zhang X, Chen L, Liu J et al (2007). A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. BMC Med Genet 8: 52.
-
(2007)
BMC Med Genet
, vol.8
, pp. 52
-
-
Zhang, X.1
Chen, L.2
Liu, J.3
|