-
3
-
-
50849088970
-
The genetic basis of inherited anomalies of the teeth. Part 2: Syndromes with significant dental involvement
-
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, et al. (2008) The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet 51: 383-408.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 383-408
-
-
Bailleul-Forestier, I.1
Berdal, A.2
Vinckier, F.3
De Ravel, T.4
Fryns, J.P.5
-
4
-
-
47749109092
-
The genetic basis of inherited anomalies of the teeth. Part 1: Clinical and molecular aspects of nonsyndromic dental disorders
-
Bailleul-Forestier I, Molla M, Verloes A, Berdal A (2008) The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of nonsyndromic dental disorders. Eur J Med Genet 51: 273-291.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 273-291
-
-
Bailleul-Forestier, I.1
Molla, M.2
Verloes, A.3
Berdal, A.4
-
5
-
-
35348987509
-
Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
-
Adaimy L, Chouery E, Mégarbané H, Mroueh S, Delague V, et al. (2007) Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia. American journal of human genetics 81: 821-828.
-
(2007)
American Journal of Human Genetics
, vol.81
, pp. 821-828
-
-
Adaimy, L.1
Chouery, E.2
Mégarbané, H.3
Mroueh, S.4
Delague, V.5
-
6
-
-
78650427945
-
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
-
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, et al. (2011) Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation 32: 70-72.
-
(2011)
Human Mutation
, vol.32
, pp. 70-72
-
-
Cluzeau, C.1
Hadj-Rabia, S.2
Jambou, M.3
Mansour, S.4
Guigue, P.5
-
7
-
-
56749144138
-
Schopf-Schulz-Passarge syndrome: Further delineation of the phenotype and genetic considerations
-
Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G (2008) Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm Venereol 88: 607-612.
-
(2008)
Acta Derm Venereol
, vol.88
, pp. 607-612
-
-
Castori, M.1
Ruggieri, S.2
Giannetti, L.3
Annessi, G.4
Zambruno, G.5
-
8
-
-
19544388584
-
Wnt10a is involved in AER formation during chick limb development
-
Narita T, Sasaoka S, Udagawa K, Ohyama T, Wada N, et al. (2005) Wnt10a is involved in AER formation during chick limb development. Developmental Dynamics 233: 282-287.
-
(2005)
Developmental Dynamics
, vol.233
, pp. 282-287
-
-
Narita, T.1
Sasaoka, S.2
Udagawa, K.3
Ohyama, T.4
Wada, N.5
-
9
-
-
34248573977
-
Census of vertebrate Wnt genes: Isolation and developmental expression of Xenopus Wnt2, Wnt3, Wnt9a, Wnt9b, Wnt10a, and Wnt16
-
Garriock RJ, Warkman AS, Meadows SM, D'Agostino S, Krieg PA (2007) Census of vertebrate Wnt genes: isolation and developmental expression of Xenopus Wnt2, Wnt3, Wnt9a, Wnt9b, Wnt10a, and Wnt16. Dev Dyn 236: 1249-1258.
-
(2007)
Dev Dyn
, vol.236
, pp. 1249-1258
-
-
Garriock, R.J.1
Warkman, A.S.2
Meadows, S.M.3
D'Agostino, S.4
Krieg, P.A.5
-
10
-
-
0037115590
-
FGF4, a direct target of LEF1 and Wnt signaling, can rescue the arrest of tooth organogenesis in Lef1(-/-) mice
-
Kratochwil K, Galceran J, Tontsch S, Roth W, Grosschedl R (2002) FGF4, a direct target of LEF1 and Wnt signaling, can rescue the arrest of tooth organogenesis in Lef1(-/-) mice. Genes Dev 16: 3173-3185.
-
(2002)
Genes Dev
, vol.16
, pp. 3173-3185
-
-
Kratochwil, K.1
Galceran, J.2
Tontsch, S.3
Roth, W.4
Grosschedl, R.5
-
11
-
-
34249012740
-
Wnt10a regulates dentin sialophosphoprotein mRNA expression and possibly links odontoblast differentiation and tooth morphogenesis
-
Yamashiro T, Zheng L, Shitaku Y, Saito M, Tsubakimoto T, et al. (2007) Wnt10a regulates dentin sialophosphoprotein mRNA expression and possibly links odontoblast differentiation and tooth morphogenesis. Differentiation 75: 452-462.
-
(2007)
Differentiation
, vol.75
, pp. 452-462
-
-
Yamashiro, T.1
Zheng, L.2
Shitaku, Y.3
Saito, M.4
Tsubakimoto, T.5
-
12
-
-
0034880422
-
Characterization of Wnt gene expression in developing and postnatal hair follicles and identification of Wnt5a as a target of Sonic hedgehog in hair follicle morphogenesis
-
Reddy S, Andl T, Bagasra A, Lu MM, Epstein DJ, et al. (2001) Characterization of Wnt gene expression in developing and postnatal hair follicles and identification of Wnt5a as a target of Sonic hedgehog in hair follicle morphogenesis. Mech Dev 107: 69-82.
-
(2001)
Mech Dev
, vol.107
, pp. 69-82
-
-
Reddy, S.1
Andl, T.2
Bagasra, A.3
Lu, M.M.4
Epstein, D.J.5
-
13
-
-
67650230898
-
Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction
-
Zhang Y, Tomann P, Andl T, Gallant NM, Huelsken J, et al. (2009) Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction. Dev Cell 17: 49-61.
-
(2009)
Dev Cell
, vol.17
, pp. 49-61
-
-
Zhang, Y.1
Tomann, P.2
Andl, T.3
Gallant, N.M.4
Huelsken, J.5
-
14
-
-
84864094899
-
Mutations in WNT10A are present in more than half of isolated hypodontia cases
-
van den Boogaard M-J, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, et al. (2012) Mutations in WNT10A are present in more than half of isolated hypodontia cases. Journal of Medical Genetics 49: 327-331.
-
(2012)
Journal of Medical Genetics
, vol.49
, pp. 327-331
-
-
Van Den Boogaard, M.-J.1
Créton, M.2
Bronkhorst, Y.3
Van Der Hout, A.4
Hennekam, E.5
-
15
-
-
67649880580
-
WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
-
Bohring A, Stamm T, Spaich C, Haase C, Spree K, et al. (2009) WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes. American journal of human genetics 85: 97-105.
-
(2009)
American Journal of Human Genetics
, vol.85
, pp. 97-105
-
-
Bohring, A.1
Stamm, T.2
Spaich, C.3
Haase, C.4
Spree, K.5
-
16
-
-
0031716740
-
The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
-
Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, et al. (1998) The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats. Human Molecular Genetics 7: 1661-1669.
-
(1998)
Human Molecular Genetics
, vol.7
, pp. 1661-1669
-
-
Bayés, M.1
Hartung, A.J.2
Ezer, S.3
Pispa, J.4
Thesleff, I.5
-
18
-
-
0034740688
-
Requirement of NF-kappaB/Rel for the development of hair follicles and other epidermal appendices
-
Schmidt-Ullrich R, Aebischer T, Hulsken J, Birchmeier W, Klemm U, et al. (2001) Requirement of NF-kappaB/Rel for the development of hair follicles and other epidermal appendices. Development 128: 3843-3853.
-
(2001)
Development
, vol.128
, pp. 3843-3853
-
-
Schmidt-Ullrich, R.1
Aebischer, T.2
Hulsken, J.3
Birchmeier, W.4
Klemm, U.5
-
19
-
-
13144261692
-
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation
-
Orange JS, Levy O, Geha RS (2005) Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 203: 21-37.
-
(2005)
Immunol Rev
, vol.203
, pp. 21-37
-
-
Orange, J.S.1
Levy, O.2
Geha, R.S.3
-
20
-
-
0032231350
-
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
-
Monreal AW, Zonana J, Ferguson B (1998) Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 63: 380-389.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 380-389
-
-
Monreal, A.W.1
Zonana, J.2
Ferguson, B.3
-
21
-
-
0035320883
-
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
-
Pääkkönen K, Cambiaghi S, Novelli G, Ouzts LV, Penttinen M, et al. (2001) The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Human Mutation 17: 349-349.
-
(2001)
Human Mutation
, vol.17
, pp. 349-349
-
-
Pääkkönen, K.1
Cambiaghi, S.2
Novelli, G.3
Ouzts, L.V.4
Penttinen, M.5
-
22
-
-
0035379554
-
Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodys-plasin-A
-
Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, et al. (2001) Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodys-plasin-A. Journal of Biological Chemistry 276: 18819-18827.
-
(2001)
Journal of Biological Chemistry
, vol.276
, pp. 18819-18827
-
-
Schneider, P.1
Street, S.L.2
Gaide, O.3
Hertig, S.4
Tardivel, A.5
-
23
-
-
0034981134
-
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
-
Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P (2001) Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 9: 355-363.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 355-363
-
-
Vincent, M.C.1
Biancalana, V.2
Ginisty, D.3
Mandel, J.L.4
Calvas, P.5
-
24
-
-
56649118947
-
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis
-
Han D, Gong Y, Wu H, Zhang X, Yan M, et al. (2008) Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. Eur J Med Genet 51: 536-546.
-
(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
-
25
-
-
62649120465
-
EDA gene mutations underlie non-syndromic oligodontia
-
Song S, Han D, Qu H, Gong Y, Wu H, et al. (2009) EDA gene mutations underlie non-syndromic oligodontia. J Dent Res 88: 126-131.
-
(2009)
J Dent Res
, vol.88
, pp. 126-131
-
-
Song, S.1
Han, D.2
Qu, H.3
Gong, Y.4
Wu, H.5
-
26
-
-
75549090213
-
KEGG for representation and analysis of molecular networks involving diseases and drugs
-
Kanehisa M, Goto S, Furumichi M, Tanabe M, Hirakawa M (2010) KEGG for representation and analysis of molecular networks involving diseases and drugs. Nucleic Acids Res 38: D355-360.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Kanehisa, M.1
Goto, S.2
Furumichi, M.3
Tanabe, M.4
Hirakawa, M.5
-
27
-
-
36448991500
-
Clustal W and Clustal X
-
version 2.0
-
Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, et al. (2007) Clustal W and Clustal X version 2.0. Bioinformatics 23: 2947-2948.
-
(2007)
Bioinformatics
, vol.23
, pp. 2947-2948
-
-
Larkin, M.A.1
Blackshields, G.2
Brown, N.P.3
Chenna, R.4
McGettigan, P.A.5
-
28
-
-
77954287478
-
Protein annotation and modelling servers at University College London
-
Buchan DW, Ward SM, Lobley AE, Nugent TC, Bryson K, et al. (2010) Protein annotation and modelling servers at University College London. Nucleic Acids Res 38: W563-568.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Buchan, D.W.1
Ward, S.M.2
Lobley, A.E.3
Nugent, T.C.4
Bryson, K.5
-
29
-
-
0344665611
-
The crystal structures of EDA-A1 and EDA-A2: Splice variants with distinct receptor specificity
-
Hymowitz SG, Compaan DM, Yan M, Wallweber HJ, Dixit VM, et al. (2003) The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity. Structure 11: 1513-1520.
-
(2003)
Structure
, vol.11
, pp. 1513-1520
-
-
Hymowitz, S.G.1
Compaan, D.M.2
Yan, M.3
Wallweber, H.J.4
Dixit, V.M.5
-
30
-
-
79960091955
-
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations
-
Zhang J, Han D, Song S, Wang Y, Zhao H, et al. (2011) Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. Eur JMed Genet 54: e377-382.
-
(2011)
Eur JMed Genet
, vol.54
-
-
Zhang, J.1
Han, D.2
Song, S.3
Wang, Y.4
Zhao, H.5
-
31
-
-
84894261317
-
-
WNT10A Gene Mutation Cause Isolated Tooth Agenesis. Poster Session-Abstract # 2746. Available: Accessed 22 March 2013
-
Zhao R, Song S, He H, Feng H, Zhang J (2013) WNT10A Gene Mutation Cause Isolated Tooth Agenesis. IADR/AADR/CADR General Session and Exhibition: Poster Session-Abstract # 2746. Available: http://iadr.confex.com/iadr/13iags/ webprogram/Paper172937.html. Accessed 22 March 2013.
-
(2013)
IADR/AADR/CADR General Session and Exhibition
-
-
Zhao, R.1
Song, S.2
He, H.3
Feng, H.4
Zhang, J.5
-
32
-
-
0019177703
-
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia
-
Nakata M, Koshiba H, Eto K, Nance WE (1980) A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet 32: 908-919.
-
(1980)
Am J Hum Genet
, vol.32
, pp. 908-919
-
-
Nakata, M.1
Koshiba, H.2
Eto, K.3
Nance, W.E.4
-
33
-
-
49549099082
-
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families
-
Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, et al. (2008) X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet 74: 252-259.
-
(2008)
Clin Genet
, vol.74
, pp. 252-259
-
-
Lexner, M.O.1
Bardow, A.2
Juncker, I.3
Jensen, L.G.4
Almer, L.5
-
34
-
-
84870769348
-
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities
-
Wang SK, Chan HC, Makovey I, Simmer JP, Hu JC (2012) Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. PLoS One 7: e51533.
-
(2012)
PLoS One
, vol.7
-
-
Wang, S.K.1
Chan, H.C.2
Makovey, I.3
Simmer, J.P.4
Hu, J.C.5
-
35
-
-
77949878973
-
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: Results from a multicenter study
-
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, et al. (2009) Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ Cardiovasc Genet 2: 418-427.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 418-427
-
-
Bhuiyan, Z.A.1
Jongbloed, J.D.2
Van Der Smagt, J.3
Lombardi, P.M.4
Wiesfeld, A.C.5
-
36
-
-
79953685160
-
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes
-
Morak M, Massdorf T, Sykora H, Kerscher M, Holinski-Feder E (2011) First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. Eur J Cancer 47: 1046-1055.
-
(2011)
Eur J Cancer
, vol.47
, pp. 1046-1055
-
-
Morak, M.1
Massdorf, T.2
Sykora, H.3
Kerscher, M.4
Holinski-Feder, E.5
-
37
-
-
84864074875
-
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
-
El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. Journal of Medical Genetics 49: 227-233.
-
(2012)
Journal of Medical Genetics
, vol.49
, pp. 227-233
-
-
El Hokayem, J.1
Huber, C.2
Couvé, A.3
Aziza, J.4
Baujat, G.5
-
38
-
-
37349092090
-
Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis
-
Liu F, Chu EY, Watt B, Zhang Y, Gallant NM, et al. (2008) Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol 313: 210-224.
-
(2008)
Dev Biol
, vol.313
, pp. 210-224
-
-
Liu, F.1
Chu, E.Y.2
Watt, B.3
Zhang, Y.4
Gallant, N.M.5
-
39
-
-
48949116057
-
Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes
-
Fliniaux I, Mikkola ML, Lefebvre S, Thesleff I (2008) Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes. Dev Biol 320: 60-71.
-
(2008)
Dev Biol
, vol.320
, pp. 60-71
-
-
Fliniaux, I.1
Mikkola, M.L.2
Lefebvre, S.3
Thesleff, I.4
-
40
-
-
0035862916
-
TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis
-
Laurikkala J, Mikkola M, Mustonen T, Aberg T, Koppinen P, et al. (2001) TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis. Dev Biol 229: 443-455.
-
(2001)
Dev Biol
, vol.229
, pp. 443-455
-
-
Laurikkala, J.1
Mikkola, M.2
Mustonen, T.3
Aberg, T.4
Koppinen, P.5
|