-
1
-
-
33749064639
-
A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families
-
16932841
-
Chishti MS, Muhammad D, Haider M, Ahmad W. A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families. J Hum Genet. 2006;51:872-878. PMID: 16932841
-
(2006)
J Hum Genet.
, vol.51
, pp. 872-878
-
-
Chishti, M.S.1
Muhammad, D.2
Haider, M.3
Ahmad, W.4
-
2
-
-
84886291802
-
Developmental disorders of the dentition: An update
-
Klein OD, Oberoi S, Huysseune A, Hovorakova M, Peterka M, Peterkova R. Developmental disorders of the dentition: An update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2013;163:318-332.
-
(2013)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, vol.163
, pp. 318-332
-
-
Klein, O.D.1
Oberoi, S.2
Huysseune, A.3
Hovorakova, M.4
Peterka, M.5
Peterkova, R.6
-
3
-
-
84896329067
-
Genetic basis of dental agenesis-molecular genetics patterning clinical dentistry
-
24121910
-
Chhabra N, Goswami M, Chhabra A. Genetic basis of dental agenesis-molecular genetics patterning clinical dentistry. Med Oral Patol Oral Cir Bucal. 2014;19:e112-e119. PMID: 24121910
-
(2014)
Med Oral Patol Oral Cir Bucal.
, vol.19
, pp. e112-e119
-
-
Chhabra, N.1
Goswami, M.2
Chhabra, A.3
-
4
-
-
62649120465
-
EDA gene mutations underlie non-syndromic oligodontia
-
19278982
-
Song S, Han D, Qu H, Gong Y, Wu H, Zhang X, et al. EDA gene mutations underlie non-syndromic oligodontia. J Dent Res. 2009;88:126-131. doi: 10.1177/0022034508328627 PMID: 19278982
-
(2009)
J Dent Res.
, vol.88
, pp. 126-131
-
-
Song, S.1
Han, D.2
Qu, H.3
Gong, Y.4
Wu, H.5
Zhang, X.6
-
5
-
-
57449112374
-
Identification and functional analysis of two novel PAX9 mutations
-
18701815
-
Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, et al. Identification and functional analysis of two novel PAX9 mutations. Cells Tissues Organs. 2009;189:80-87. doi: 10.1159/000151448 PMID: 18701815
-
(2009)
Cells Tissues Organs.
, vol.189
, pp. 80-87
-
-
Wang, Y.1
Wu, H.2
Wu, J.3
Zhao, H.4
Zhang, X.5
Mues, G.6
-
6
-
-
79959505447
-
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes
-
21626677
-
Bergendal B, Klar J, Stecksen-Blicks C, Norderyd J, Dahl N. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A. 2011;155A:1616-1622. doi: 10.1002/ajmg.a.34045 PMID: 21626677
-
(2011)
Am J Med Genet A.
, vol.155 A
, pp. 1616-1622
-
-
Bergendal, B.1
Klar, J.2
Stecksen-Blicks, C.3
Norderyd, J.4
Dahl, N.5
-
7
-
-
0033986083
-
Mutation of PAX9 is associated with oligodontia
-
10615120
-
Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000;24:18-19. PMID: 10615120
-
(2000)
Nat Genet.
, vol.24
, pp. 18-19
-
-
Stockton, D.W.1
Das, P.2
Goldenberg, M.3
D'Souza, R.N.4
Patel, P.I.5
-
8
-
-
84864094899
-
Mutations in WNT10A are present in more than half of isolated hypodontia cases
-
22581971
-
van den Boogaard MJ, Creton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, et al. Mutations in WNT10A are present in more than half of isolated hypodontia cases. J Med Genet. 2012;49:327-331. doi: 10.1136/jmedgenet-2012-100750 PMID: 22581971
-
(2012)
J Med Genet.
, vol.49
, pp. 327-331
-
-
Van Den Boogaard, M.J.1
Creton, M.2
Bronkhorst, Y.3
Van Der Hout, A.4
Hennekam, E.5
Lindhout, D.6
-
9
-
-
56649118947
-
Novel EDA mutation resulting in X-linked nonsyndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis
-
18657636
-
Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, et al. Novel EDA mutation resulting in X-linked nonsyndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. Eur J Med Genet. 2008;51:536-546. doi: 10.1016/j.ejmg.2008.06.002 PMID: 18657636
-
(2008)
Eur J Med Genet.
, vol.51
, pp. 536-546
-
-
Han, D.1
Gong, Y.2
Wu, H.3
Zhang, X.4
Yan, M.5
Wang, X.6
-
10
-
-
84882808842
-
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations
-
23991204
-
Arte S, Parmanen S, Pirinen S, Alaluusua S, Nieminen P. Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations. PLoS One. 2013;8:e73705. doi: 10.1371/journal.pone.0073705 PMID: 23991204
-
(2013)
PLoS One.
, vol.8
, pp. e73705
-
-
Arte, S.1
Parmanen, S.2
Pirinen, S.3
Alaluusua, S.4
Nieminen, P.5
-
11
-
-
40849116467
-
PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: A case-control study in southeast China
-
18353002
-
Pan Y, Wang L, Ma J, Zhang W, Wang M, Zhong W, et al. PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. Eur J Oral Sci. 2008;116:98-103. doi: 10.1111/j.1600-0722.2007.00517.x PMID: 18353002
-
(2008)
Eur J Oral Sci.
, vol.116
, pp. 98-103
-
-
Pan, Y.1
Wang, L.2
Ma, J.3
Zhang, W.4
Wang, M.5
Zhong, W.6
-
12
-
-
74049115101
-
Polymorphism in the Msx1 gene associated with hypodontia in a Brazilian family
-
19776500
-
Silva ER, Reis-Filho CR, Napimoga MH, Alves JB. Polymorphism in the Msx1 gene associated with hypodontia in a Brazilian family. J Oral Sci. 2009;51:341-345. PMID: 19776500
-
(2009)
J Oral Sci.
, vol.51
, pp. 341-345
-
-
Silva, E.R.1
Reis-Filho, C.R.2
Napimoga, M.H.3
Alves, J.B.4
-
13
-
-
84880210843
-
Genetic background of nonsyndromic oligodontia: A systematic review and meta-analysis
-
23828301
-
Ruf S, Klimas D, Honemann M, Jabir S. Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis. J Orofac Orthop. 2013;74:295-308. doi: 10.1007/s00056-013-0138-z PMID: 23828301
-
(2013)
J Orofac Orthop.
, vol.74
, pp. 295-308
-
-
Ruf, S.1
Klimas, D.2
Honemann, M.3
Jabir, S.4
-
14
-
-
0030017452
-
A human MSX1 homeodomain missense mutation causes selective tooth agenesis
-
8696335
-
Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet. 1996;13:417-421. PMID: 8696335
-
(1996)
Nat Genet.
, vol.13
, pp. 417-421
-
-
Vastardis, H.1
Karimbux, N.2
Guthua, S.W.3
Seidman, J.G.4
Seidman, C.E.5
-
15
-
-
0033082377
-
Teeth. Where and how to make them
-
10098408
-
Peters H, Balling R. Teeth. Where and how to make them. Trends Genet. 1999;15:59-65. PMID: 10098408
-
(1999)
Trends Genet.
, vol.15
, pp. 59-65
-
-
Peters, H.1
Balling, R.2
-
16
-
-
2342613578
-
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer
-
15042511
-
Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043-1050. PMID: 15042511
-
(2004)
Am J Hum Genet.
, vol.74
, pp. 1043-1050
-
-
Lammi, L.1
Arte, S.2
Somer, M.3
Jarvinen, H.4
Lahermo, P.5
Thesleff, I.6
-
17
-
-
84891840348
-
WNT10A variants are associated with non-syndromic tooth agenesis in the general population
-
24043634
-
Song S, Zhao R, He H, Zhang J, Feng H, Lin L. WNT10A variants are associated with non-syndromic tooth agenesis in the general population. Hum Genet. 2014;133:117-124. doi: 10.1007/s00439-013-1360-x PMID: 24043634
-
(2014)
Hum Genet.
, vol.133
, pp. 117-124
-
-
Song, S.1
Zhao, R.2
He, H.3
Zhang, J.4
Feng, H.5
Lin, L.6
-
18
-
-
84877843794
-
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA)
-
23603338
-
Nikopensius T, Annilo T, Jagomagi T, Gilissen C, Kals M, Krjutskov K, et al. Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA). J Dent Res. 2013;92:507-511. doi: 10.1177/0022034513487210 PMID: 23603338
-
(2013)
J Dent Res.
, vol.92
, pp. 507-511
-
-
Nikopensius, T.1
Annilo, T.2
Jagomagi, T.3
Gilissen, C.4
Kals, M.5
Krjutskov, K.6
-
19
-
-
84877844709
-
Novel EDA p. Ile260Ser mutation linked to non-syndromic hypodontia
-
23625373
-
Yang Y, Luo L, Xu J, Zhu P, Xue W, Wang J, et al. Novel EDA p. Ile260Ser mutation linked to non-syndromic hypodontia. J Dent Res. 2013;92:500-506. doi: 10.1177/0022034513487557 PMID: 23625373
-
(2013)
J Dent Res.
, vol.92
, pp. 500-506
-
-
Yang, Y.1
Luo, L.2
Xu, J.3
Zhu, P.4
Xue, W.5
Wang, J.6
-
20
-
-
84906806012
-
A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia
-
24914010
-
Wong SW, Liu HC, Han D, Chang HG, Zhao HS, Wang YX, et al. A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. Mutagenesis. 2014;29:319-323. doi: 10. 1093/mutage/geu019 PMID: 24914010
-
(2014)
Mutagenesis
, vol.29
, pp. 319-323
-
-
Wong, S.W.1
Liu, H.C.2
Han, D.3
Chang, H.G.4
Zhao, H.S.5
Wang, Y.X.6
-
21
-
-
84892713809
-
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia
-
24581859
-
Wong S, Liu H, Bai B, Chang H, Zhao H, Wang Y, et al. Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia. Archives of Oral Biology. 2014;59:349-353. doi: 10.1016/j.archoralbio.2013.12.009 PMID: 24581859
-
(2014)
Archives of Oral Biology
, vol.59
, pp. 349-353
-
-
Wong, S.1
Liu, H.2
Bai, B.3
Chang, H.4
Zhao, H.5
Wang, Y.6
-
22
-
-
78650427945
-
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
-
20979233
-
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011;32:70-72. doi: 10.1002/humu.21384 PMID: 20979233
-
(2011)
Hum Mutat.
, vol.32
, pp. 70-72
-
-
Cluzeau, C.1
Hadj-Rabia, S.2
Jambou, M.3
Mansour, S.4
Guigue, P.5
Masmoudi, S.6
-
23
-
-
84885792205
-
Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families
-
24222224
-
Mu YD, Xu Z, Contreras CI, McDaniel JS, Donly KJ, Chen S. Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families. Genet Mol Res. 2013;12:4446-4458. doi: 10.4238/2013. October.10.10 PMID: 24222224
-
(2013)
Genet Mol Res.
, vol.12
, pp. 4446-4458
-
-
Mu, Y.D.1
Xu, Z.2
Contreras, C.I.3
McDaniel, J.S.4
Donly, K.J.5
Chen, S.6
-
25
-
-
63849246525
-
Protein structure prediction on the Web: A case study using the Phyre server
-
19247286
-
Kelley LA, Sternberg MJ. Protein structure prediction on the Web: a case study using the Phyre server. Nat Protoc. 2009;4:363-371. doi: 10.1038/nprot.2009.2 PMID: 19247286
-
(2009)
Nat Protoc.
, vol.4
, pp. 363-371
-
-
Kelley, L.A.1
Sternberg, M.J.2
-
26
-
-
0034128414
-
The regulator of G protein signaling family
-
10836135
-
De Vries L, Zheng B, Fischer T, Elenko E, Farquhar MG. The regulator of G protein signaling family. Annu Rev Pharmacol Toxicol. 2000;40:235-271. PMID: 10836135
-
(2000)
Annu Rev Pharmacol Toxicol.
, vol.40
, pp. 235-271
-
-
De Vries, L.1
Zheng, B.2
Fischer, T.3
Elenko, E.4
Farquhar, M.G.5
-
27
-
-
67650034632
-
Genetic basis of tooth agenesis
-
19219933
-
Nieminen P. Genetic basis of tooth agenesis. J Exp Zool B Mol Dev Evol. 2009;312B:320-342. doi: 10.1002/jez.b.21277 PMID: 19219933
-
(2009)
J Exp Zool B Mol Dev Evol.
, vol.312 B
, pp. 320-342
-
-
Nieminen, P.1
-
28
-
-
56549094226
-
Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis
-
18790474
-
Callahan N, Modesto A, Meira R, Seymen F, Patir A, Vieira AR Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis. Arch Oral Biol. 2009;54:45-49. doi: 10.1016/j.archoralbio.2008.08. 002 PMID: 18790474
-
(2009)
Arch Oral Biol.
, vol.54
, pp. 45-49
-
-
Callahan, N.1
Modesto, A.2
Meira, R.3
Seymen, F.4
Patir, A.5
Vieira, A.R.6
-
29
-
-
33645234495
-
Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis
-
16432638
-
Mostowska A, Biedziak B, Jagodzinski PP. Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. J Hum Genet. 2006;51:262-266. PMID: 16432638
-
(2006)
J Hum Genet.
, vol.51
, pp. 262-266
-
-
Mostowska, A.1
Biedziak, B.2
Jagodzinski, P.P.3
-
30
-
-
84898490413
-
Molecular patterning of the mammalian dentition
-
24355560
-
Lan Y, Jia S, Jiang R. Molecular patterning of the mammalian dentition. Semin Cell Dev Biol. 2014;25-26:61-70. doi: 10.1016/j.semcdb.2013.12.003 PMID: 24355560
-
(2014)
Semin Cell Dev Biol.
, vol.25-26
, pp. 61-70
-
-
Lan, Y.1
Jia, S.2
Jiang, R.3
-
31
-
-
0038028264
-
Antagonistic interactions between FGF and BMP signaling pathways: A mechanism for positioning the sites of tooth formation
-
9244299
-
Neubuser A, Peters H, Balling R, Martin GR. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell. 1997;90:247-255. PMID: 9244299
-
(1997)
Cell
, vol.90
, pp. 247-255
-
-
Neubuser, A.1
Peters, H.2
Balling, R.3
Martin, G.R.4
-
32
-
-
84891155412
-
The ectodysplasin pathway: From diseases to adaptations
-
24070496
-
Sadier A, Viriot L, Pantalacci S, Laudet V. The ectodysplasin pathway: from diseases to adaptations. Trends Genet. 2014;30:24-31. doi: 10.1016/j.tig.2013.08.006 PMID: 24070496
-
(2014)
Trends Genet.
, vol.30
, pp. 24-31
-
-
Sadier, A.1
Viriot, L.2
Pantalacci, S.3
Laudet, V.4
-
33
-
-
77953132557
-
Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A
-
20418069
-
Nagy N, Wedgeworth E, Hamada T, White JM, Hashimoto T, McGrath JA. Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A. J Dermatol Sci. 2010;58:220-222. doi: 10.1016/j.jdermsci.2010.03.012 PMID: 20418069
-
(2010)
J Dermatol Sci.
, vol.58
, pp. 220-222
-
-
Nagy, N.1
Wedgeworth, E.2
Hamada, T.3
White, J.M.4
Hashimoto, T.5
McGrath, J.A.6
-
34
-
-
80051801625
-
Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p. Cys107X, in WNT10A
-
21834823
-
Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA. Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p. Cys107X, in WNT10A. Australas J Dermatol. 2011;52:224-226. doi: 10.1111/j.1440-0960.2011.00788.x PMID: 21834823
-
(2011)
Australas J Dermatol.
, vol.52
, pp. 224-226
-
-
Petrof, G.1
Fong, K.2
Lai-Cheong, J.E.3
Cockayne, S.E.4
McGrath, J.A.5
-
35
-
-
70450233732
-
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
-
19471313
-
Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, et al. WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet. 2009;17:1600-1605. doi: 10.1038/ejhg.2009.81 PMID: 19471313
-
(2009)
Eur J Hum Genet.
, vol.17
, pp. 1600-1605
-
-
Nawaz, S.1
Klar, J.2
Wajid, M.3
Aslam, M.4
Tariq, M.5
Schuster, J.6
-
36
-
-
84892875876
-
WNT10A mutations account for (1/4) of populationbased isolated oligodontia and show phenotypic correlations
-
24449199
-
Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N. WNT10A mutations account for (1/4) of populationbased isolated oligodontia and show phenotypic correlations. Am J Med Genet A. 2014;164A:353-359. doi: 10.1002/ajmg.a.36243 PMID: 24449199
-
(2014)
Am J Med Genet A.
, vol.164 A
, pp. 353-359
-
-
Arzoo, P.S.1
Klar, J.2
Bergendal, B.3
Norderyd, J.4
Dahl, N.5
-
37
-
-
79953297299
-
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome
-
21416598
-
Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet A. 2011;155A:898-902. doi: 10.1002/ajmg.a.33927 PMID: 21416598
-
(2011)
Am J Med Genet A.
, vol.155 A
, pp. 898-902
-
-
Marvin, M.L.1
Mazzoni, S.M.2
Herron, C.M.3
Edwards, S.4
Gruber, S.B.5
Petty, E.M.6
|