-
1
-
-
64849093040
-
Autosomal dominant junctional epidermolysis bullosa
-
Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, et al. Autosomal dominant junctional epidermolysis bullosa. Br J Dermatol. 2009 ; 160: 1094-1097
-
(2009)
Br J Dermatol
, vol.160
, pp. 1094-1097
-
-
Almaani, N.1
Liu, L.2
Dopping-Hepenstal, P.J.3
Lovell, P.A.4
Lai-Cheong, J.E.5
Graham, R.M.6
-
2
-
-
0025165018
-
Structure and function of laminin: Anatomy of a multidomain glycoprotein
-
Beck K, Hunter I, Engel J. Structure and function of laminin: anatomy of a multidomain glycoprotein. FASEB J. 1990 ; 4: 148-160
-
(1990)
FASEB J
, vol.4
, pp. 148-160
-
-
Beck, K.1
Hunter, I.2
Engel, J.3
-
4
-
-
4944263841
-
Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay
-
Buchroithner B, Klausegger A, Ebschner U, Anton-Lamprecht I, Pohla-Gubo G, Lanschuetzer CM, et al. Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. Lab Invest. 2004 ; 84: 1279-1288
-
(2004)
Lab Invest
, vol.84
, pp. 1279-1288
-
-
Buchroithner, B.1
Klausegger, A.2
Ebschner, U.3
Anton-Lamprecht, I.4
Pohla-Gubo, G.5
Lanschuetzer, C.M.6
-
5
-
-
79960846178
-
Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons
-
Chiang LY, Poole K, Oliveira BE, Duarte N, Sierra YA, Bruckner-Tuderman L, et al. Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons. Nat Neurosci. 2011 ; 14: 993-1000
-
(2011)
Nat Neurosci
, vol.14
, pp. 993-1000
-
-
Chiang, L.Y.1
Poole, K.2
Oliveira, B.E.3
Duarte, N.4
Sierra, Y.A.5
Bruckner-Tuderman, L.6
-
6
-
-
10344261517
-
Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts
-
Fukumoto S, Kiba T, Hall B, Iehara N, Nakamura T, Longenecker G, et al. Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol. 2004 ; 167: 973-983
-
(2004)
J Cell Biol
, vol.167
, pp. 973-983
-
-
Fukumoto, S.1
Kiba, T.2
Hall, B.3
Iehara, N.4
Nakamura, T.5
Longenecker, G.6
-
7
-
-
0642275691
-
Enamelin and autosomal-dominant amelogenesis imperfecta
-
Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med. 2003 ; 14: 387-398
-
(2003)
Crit Rev Oral Biol Med
, vol.14
, pp. 387-398
-
-
Hu, J.C.1
Yamakoshi, Y.2
-
8
-
-
44849142485
-
Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice
-
Hu JC, Hu Y, Smith CE, McKee MD, Wright JT, Yamakoshi Y, et al. Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice. J Biol Chem. 2008 ; 283: 10858-10871
-
(2008)
J Biol Chem
, vol.283
, pp. 10858-10871
-
-
Hu, J.C.1
Hu, Y.2
Smith, C.E.3
McKee, M.D.4
Wright, J.T.5
Yamakoshi, Y.6
-
9
-
-
0026034937
-
Immunohistochemical demonstration of amelogenin penetration toward the dental pulp in the early stages of ameloblast development in rat molar tooth germs
-
Inai T, Kukita T, Ohsaki Y, Nagata K, Kukita A, Kurisu K. Immunohistochemical demonstration of amelogenin penetration toward the dental pulp in the early stages of ameloblast development in rat molar tooth germs. Anat Rec. 1991 ; 229: 259-270
-
(1991)
Anat Rec
, vol.229
, pp. 259-270
-
-
Inai, T.1
Kukita, T.2
Ohsaki, Y.3
Nagata, K.4
Kukita, A.5
Kurisu, K.6
-
10
-
-
33646529339
-
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families
-
Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC. Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci. 2006 ; 114: 3-12
-
(2006)
Eur J Oral Sci
, vol.114
, pp. 3-12
-
-
Kim, J.W.1
Simmer, J.P.2
Lin, B.P.3
Seymen, F.4
Bartlett, J.D.5
Hu, J.C.6
-
11
-
-
40749109023
-
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta
-
Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, et al. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet. 2008 ; 82: 489-494
-
(2008)
Am J Hum Genet
, vol.82
, pp. 489-494
-
-
Kim, J.W.1
Lee, S.K.2
Zh, L.3
Park, J.C.4
Lee, K.E.5
Lee, M.H.6
-
12
-
-
84881317841
-
Effects of Fam83h overexpression on enamel and dentine formation
-
Kweon YS, Lee KE, Ko J, Hu JC, Simmer JP, Kim JW. Effects of Fam83h overexpression on enamel and dentine formation. Arch Oral Biol. 2013 ; 58: 1148-1154
-
(2013)
Arch Oral Biol
, vol.58
, pp. 1148-1154
-
-
Kweon, Y.S.1
Lee, K.E.2
Ko, J.3
Hu, J.C.4
Simmer, J.P.5
Kim, J.W.6
-
13
-
-
33744924491
-
Epidermal basement membrane: Its molecular organization and blistering disorders
-
Masunaga T. Epidermal basement membrane: its molecular organization and blistering disorders. Connect Tissue Res. 2006 ; 47: 55-66
-
(2006)
Connect Tissue Res
, vol.47
, pp. 55-66
-
-
Masunaga, T.1
-
14
-
-
0029897474
-
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
-
McGrath JA, Gatalica B, Li K, Dunnill MG, McMillan JR, Christiano AM, et al. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol. 1996 ; 148: 1787-1796
-
(1996)
Am J Pathol
, vol.148
, pp. 1787-1796
-
-
McGrath, J.A.1
Gatalica, B.2
Li, K.3
Dunnill, M.G.4
McMillan, J.R.5
Christiano, A.M.6
-
15
-
-
70349668982
-
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of placental mammals
-
Meredith RW, Gatesy J, Murphy WJ, Ryder OA, Springer MS. Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of placental mammals. PLoS Genet. 2009 ; 5 :
-
(2009)
PLoS Genet
, vol.5
-
-
Meredith, R.W.1
Gatesy, J.2
Murphy, W.J.3
Ryder, O.A.4
Springer, M.S.5
-
16
-
-
84876330822
-
Critical role for alphavbeta6 integrin in enamel biomineralization
-
Mohazab L, Koivisto L, Jiang G, Kytomaki L, Haapasalo M, Owen GR, et al. Critical role for alphavbeta6 integrin in enamel biomineralization. J Cell Sci. 2013 ; 126 (Pt 3). 732-744
-
(2013)
J Cell Sci
, vol.126
, Issue.PART 3
, pp. 732-744
-
-
Mohazab, L.1
Koivisto, L.2
Jiang, G.3
Kytomaki, L.4
Haapasalo, M.5
Owen, G.R.6
-
17
-
-
34250655712
-
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects
-
Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, et al. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol. 2007 ; 127: 1772-1775
-
(2007)
J Invest Dermatol
, vol.127
, pp. 1772-1775
-
-
Murrell, D.F.1
Pasmooij, A.M.2
Pas, H.H.3
Marr, P.4
Klingberg, S.5
Pfendner, E.6
-
18
-
-
0027481166
-
Cytochemical characterization of basement membranes in the enamel organ of the rat incisor
-
Nanci A, Zalzal S, Kogaya Y. Cytochemical characterization of basement membranes in the enamel organ of the rat incisor. Histochemistry. 1993 ; 99: 321-331
-
(1993)
Histochemistry
, vol.99
, pp. 321-331
-
-
Nanci, A.1
Zalzal, S.2
Kogaya, Y.3
-
19
-
-
33644642682
-
Phenotype of ENAM mutations is dosage-dependent
-
Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC. Phenotype of ENAM mutations is dosage-dependent. J Dent Res. 2005 ; 84: 1036-1041
-
(2005)
J Dent Res
, vol.84
, pp. 1036-1041
-
-
Ozdemir, D.1
Hart, P.S.2
Firatli, E.3
Aren, G.4
Ryu, O.H.5
Hart, T.C.6
-
20
-
-
34247359565
-
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands
-
Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol. 2007 ; 156: 861-870
-
(2007)
Br J Dermatol
, vol.156
, pp. 861-870
-
-
Pasmooij, A.M.1
Pas, H.H.2
Jansen, G.H.3
Lemmink, H.H.4
Jonkman, M.F.5
-
21
-
-
84890788309
-
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
-
Poulter JA, El-Sayed W, Shore RC, Kirkham J, Inglehearn CF, Mighell AJ. Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. Eur J Hum Genet. 2013 ;:
-
(2013)
Eur J Hum Genet
-
-
Poulter, J.A.1
El-Sayed, W.2
Shore, R.C.3
Kirkham, J.4
Inglehearn, C.F.5
Mighell, A.J.6
-
22
-
-
0032231297
-
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: Missense versus nonsense
-
Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, et al. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet. 1998 ; 63: 1376-1387
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1376-1387
-
-
Pulkkinen, L.1
Rouan, F.2
Bruckner-Tuderman, L.3
Wallerstein, R.4
Garzon, M.5
Brown, T.6
-
23
-
-
0014059950
-
The early stage of amelogenesis as observed in molar teeth of young rats
-
Reith EJ. The early stage of amelogenesis as observed in molar teeth of young rats. J Ultrastruct Res. 1967 ; 17: 503-526
-
(1967)
J Ultrastruct Res
, vol.17
, pp. 503-526
-
-
Reith, E.J.1
-
24
-
-
0033553883
-
Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells
-
Ryan MC, Lee K, Miyashita Y, Carter WG. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol. 1999 ; 145: 1309-1323
-
(1999)
J Cell Biol
, vol.145
, pp. 1309-1323
-
-
Ryan, M.C.1
Lee, K.2
Miyashita, Y.3
Carter, W.G.4
-
25
-
-
84866917913
-
A post-classical theory of enamel biomineralization and why we need one
-
Simmer JP, Richardson AS, Hu YY, Smith CE, Hu JCC. A post-classical theory of enamel biomineralization...and why we need one. Int J Oral Sci. 2012 ; 4: 129-134
-
(2012)
Int J Oral Sci
, vol.4
, pp. 129-134
-
-
Simmer, J.P.1
Richardson, A.S.2
Hu, Y.Y.3
Smith, C.E.4
Hu, J.C.C.5
-
26
-
-
84872027872
-
Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56
-
Simmer SG, Estrella NM, Milkovich RN, Hu JC. Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56. Clin Genet. 2012 ; 83: 195-197
-
(2012)
Clin Genet
, vol.83
, pp. 195-197
-
-
Simmer, S.G.1
Estrella, N.M.2
Milkovich, R.N.3
Hu, J.C.4
-
27
-
-
0034602970
-
Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15
-
Tasanen K, Eble JA, Aumailley M, Schumann H, Baetge J, Tu H, et al. Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15. J Biol Chem. 2000 ; 275: 3093-3099
-
(2000)
J Biol Chem
, vol.275
, pp. 3093-3099
-
-
Tasanen, K.1
Eble, J.A.2
Aumailley, M.3
Schumann, H.4
Baetge, J.5
Tu, H.6
-
28
-
-
84874097203
-
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing
-
Wang SK, Hu Y, Simmer JP, Seymen F, Estrella NM, Pal S, et al. Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. J Dent Res. 2013 ; 92: 266-271
-
(2013)
J Dent Res
, vol.92
, pp. 266-271
-
-
Wang, S.K.1
Hu, Y.2
Simmer, J.P.3
Seymen, F.4
Estrella, N.M.5
Pal, S.6
-
29
-
-
0024117250
-
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification
-
Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1989 ; 17: 547-553
-
(1989)
J Oral Pathol
, vol.17
, pp. 547-553
-
-
Witkop, C.J.1
-
30
-
-
0028538996
-
Dental caries risk in hereditary epidermolysis bullosa
-
Wright JT, Fine JD, Johnson L. Dental caries risk in hereditary epidermolysis bullosa. Pediatr Dent. 1994 ; 16: 427-432
-
(1994)
Pediatr Dent
, vol.16
, pp. 427-432
-
-
Wright, J.T.1
Fine, J.D.2
Johnson, L.3
-
31
-
-
84867539422
-
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa
-
Yuen WY, Pasmooij AM, Stellingsma C, Jonkman MF. Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa. Acta Derm Venereol. 2012 ; 92: 695-696
-
(2012)
Acta Derm Venereol
, vol.92
, pp. 695-696
-
-
Yuen, W.Y.1
Pasmooij, A.M.2
Stellingsma, C.3
Jonkman, M.F.4
|