-
1
-
-
18344413641
-
Herlitz's junctional epidermolysis bullosa is genetically linked to mutations in the nicein/kalinin (laminin-5) LAMC2 gene
-
Aberdam D, Galliano MF, Vailly J, et al: Herlitz's junctional epidermolysis bullosa is genetically linked to mutations in the nicein/kalinin (laminin-5) LAMC2 gene. Nat Genet 6:299-304, 1994
-
(1994)
Nat Genet
, vol.6
, pp. 299-304
-
-
Aberdam, D.1
Galliano, M.F.2
Vailly, J.3
-
2
-
-
0029984364
-
Structure of the human laminin γ2 chain gene (LAMC2): Alternative splicing with different tissue distribution of two transcripts
-
Airenne T, Haakana H, Sainio K, Kallunki T, Kallunki P, Sariola H, Tryggvason K: Structure of the human laminin γ2 chain gene (LAMC2): Alternative splicing with different tissue distribution of two transcripts. Genomics 32:54-64, 1996
-
(1996)
Genomics
, vol.32
, pp. 54-64
-
-
Airenne, T.1
Haakana, H.2
Sainio, K.3
Kallunki, T.4
Kallunki, P.5
Sariola, H.6
Tryggvason, K.7
-
3
-
-
0030912199
-
A recurrent laminin-5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: Evidence for a mutational hotspot rather than propagation of an ancestral allele
-
Ashton GHS, Mellerio JE, Dunnill MGS, et al: A recurrent laminin-5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: Evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 136:674-677, 1997
-
(1997)
Br J Dermatol
, vol.136
, pp. 674-677
-
-
Ashton, G.H.S.1
Mellerio, J.E.2
Dunnill, M.G.S.3
-
4
-
-
0028124729
-
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa
-
Baudoin C, Miquel C, Gagnoux-Palacios L, et al: A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet 3:1909-1910, 1994
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1909-1910
-
-
Baudoin, C.1
Miquel, C.2
Gagnoux-Palacios, L.3
-
5
-
-
0037272530
-
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy
-
Bauer JW, Lanschuetzer C: Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol 28:53-60, 2003
-
(2003)
Clin Exp Dermatol
, vol.28
, pp. 53-60
-
-
Bauer, J.W.1
Lanschuetzer, C.2
-
6
-
-
0036453546
-
Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: A case report and review of the literature
-
Bauer J, Schumann H, Sönnichsen K, et al: Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: A case report and review of the literature. Eur J Pediatr 161:672-679, 2002
-
(2002)
Eur J Pediatr
, vol.161
, pp. 672-679
-
-
Bauer, J.1
Schumann, H.2
Sönnichsen, K.3
-
7
-
-
0034924369
-
A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease
-
Borgato L, Bonizzato A, Lunardi C, Dusi S, Andrioli G, Scarperi A, Corrocher R: A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease. Hum Genet 108:504-510, 2001
-
(2001)
Hum Genet
, vol.108
, pp. 504-510
-
-
Borgato, L.1
Bonizzato, A.2
Lunardi, C.3
Dusi, S.4
Andrioli, G.5
Scarperi, A.6
Corrocher, R.7
-
8
-
-
0032908323
-
Structure and function of hemidesmosomes: More than simple adhesion complexes
-
Borradori L, Sonnenberg A: Structure and function of hemidesmosomes: More than simple adhesion complexes. J Invest Dermatol 112:411-418, 1999
-
(1999)
J Invest Dermatol
, vol.112
, pp. 411-418
-
-
Borradori, L.1
Sonnenberg, A.2
-
10
-
-
0034792542
-
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition
-
Castiglia D, Posteraro P, Spirito F, et al: Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol 117:731-739, 2001
-
(2001)
J Invest Dermatol
, vol.117
, pp. 731-739
-
-
Castiglia, D.1
Posteraro, P.2
Spirito, F.3
-
11
-
-
0034075654
-
Form and function: The laminin family of heterotrimers
-
Colognato H, Yurchenco PD: Form and function: The laminin family of heterotrimers. Dev Dyn 218:213-234, 2000
-
(2000)
Dev Dyn
, vol.218
, pp. 213-234
-
-
Colognato, H.1
Yurchenco, P.D.2
-
12
-
-
12944293136
-
Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa
-
Fine J-D, Eady RAJ, Bauer EA, et al: Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42:1051-1066, 2000
-
(2000)
J Am Acad Dermatol
, vol.42
, pp. 1051-1066
-
-
Fine, J.-D.1
Eady, R.A.J.2
Bauer, E.A.3
-
13
-
-
0035504318
-
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging
-
Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne JP, Meneguzzi G: Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum Mol Genet 10:2453-2461, 2001
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2453-2461
-
-
Gache, Y.1
Allegra, M.2
Bodemer, C.3
Pisani-Spadafora, A.4
De Prost, Y.5
Ortonne, J.P.6
Meneguzzi, G.7
-
14
-
-
0036907047
-
Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa
-
Gardella R, Castiglia D, Posteraro P, et al: Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 119:1456-1462, 2002
-
(2002)
J Invest Dermatol
, vol.119
, pp. 1456-1462
-
-
Gardella, R.1
Castiglia, D.2
Posteraro, P.3
-
16
-
-
0033525169
-
A perfect message: RNA surveillance and nonsense-mediated decay
-
Hentze MW, Kulozik AE: A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307-310, 1999
-
(1999)
Cell
, vol.96
, pp. 307-310
-
-
Hentze, M.W.1
Kulozik, A.E.2
-
17
-
-
0027017315
-
Partial gene duplication as a cause of human disease
-
Hu X, Worton RG: Partial gene duplication as a cause of human disease. Hum Mutat 1:3-12, 1992
-
(1992)
Hum Mutat
, vol.1
, pp. 3-12
-
-
Hu, X.1
Worton, R.G.2
-
18
-
-
0026754516
-
A truncated laminin chain homologous to the B2 chain: Structure, spatial expression, and chromosomal assignment
-
Kallunki P, Sainio K, Eddy R, et al: A truncated laminin chain homologous to the B2 chain: Structure, spatial expression, and chromosomal assignment. J Cell Biol 119:679-693, 1992
-
(1992)
J Cell Biol
, vol.119
, pp. 679-693
-
-
Kallunki, P.1
Sainio, K.2
Eddy, R.3
-
19
-
-
0026640262
-
The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor
-
Marinkovich MP, Lunstrum GP, Burgeson RE: The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J Biol Chem 267:17900-17906, 1992
-
(1992)
J Biol Chem
, vol.267
, pp. 17900-17906
-
-
Marinkovich, M.P.1
Lunstrum, G.P.2
Burgeson, R.E.3
-
20
-
-
0032836379
-
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations
-
McGrath JA, Ashton GHS, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RAJ: Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. J Invest Dermatol 113:314-321, 1999
-
(1999)
J Invest Dermatol
, vol.113
, pp. 314-321
-
-
McGrath, J.A.1
Ashton, G.H.S.2
Mellerio, J.E.3
Salas-Alanis, J.C.4
Swensson, O.5
McMillan, J.R.6
Eady, R.A.J.7
-
21
-
-
0028919592
-
Altered laminin-5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa
-
McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J: Altered laminin-5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474, 1995
-
(1995)
J Invest Dermatol
, vol.104
, pp. 467-474
-
-
McGrath, J.A.1
Pulkkinen, L.2
Christiano, A.M.3
Leigh, I.M.4
Eady, R.A.5
Uitto, J.6
-
22
-
-
10744230804
-
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
-
McLean WHI, Irvine AD, Hamill KJ, et al: An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 12:2395-2409, 2003
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2395-2409
-
-
McLean, W.H.I.1
Irvine, A.D.2
Hamill, K.J.3
-
23
-
-
0036461064
-
Laminin 5 mutations in functional epidermolysis bullosa: Molecular basis of Herlitz vs non-Herlitz phenotypes
-
Nakano A, Chao SC, Pulkkinen L, Murrell D, Brukner-Tuderman L, Pfender E, Uitto J: Laminin 5 mutations in functional epidermolysis bullosa: Molecular basis of Herlitz vs non-Herlitz phenotypes. Hum Genet 110:41-51, 2002a
-
(2002)
Hum Genet
, vol.110
, pp. 41-51
-
-
Nakano, A.1
Chao, S.C.2
Pulkkinen, L.3
Murrell, D.4
Brukner-Tuderman, L.5
Pfender, E.6
Uitto, J.7
-
24
-
-
0036553471
-
Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families
-
Nakano A, Lestringant GG, Paperna T, et al: Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 46:510-516, 2002b
-
(2002)
J Am Acad Dermatol
, vol.46
, pp. 510-516
-
-
Nakano, A.1
Lestringant, G.G.2
Paperna, T.3
-
25
-
-
0033832592
-
Herlitz functional epidermolysis bullosa: Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency
-
Nakano A, Pfender E, Hashimoto I, Uitto J: Herlitz functional epidermolysis bullosa: Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 115:493-498, 2000
-
(2000)
J Invest Dermatol
, vol.115
, pp. 493-498
-
-
Nakano, A.1
Pfender, E.2
Hashimoto, I.3
Uitto, J.4
-
26
-
-
0032562076
-
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes non-lethal junctional epidermolysis bullosa
-
Posteraro P, Sorvillo S, Gagnoux-Palacios L, et al: Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes non-lethal junctional epidermolysis bullosa. Biochem Biophys Res Commun 243:758-764, 1998
-
(1998)
Biochem Biophys Res Commun
, vol.243
, pp. 758-764
-
-
Posteraro, P.1
Sorvillo, S.2
Gagnoux-Palacios, L.3
-
27
-
-
0028568985
-
A homozygous nonsense mutation in the β3 chain gene of laminin-5 (LAMB3) in Herlitz junctional epidermolysis bullosa
-
Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the β3 chain gene of laminin-5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360, 1994
-
(1994)
Genomics
, vol.24
, pp. 357-360
-
-
Pulkkinen, L.1
Christiano, A.M.2
Gerecke, D.R.3
Wagman, D.W.4
Burgeson, R.E.5
Pittelkow, M.R.6
Uitto, J.7
-
28
-
-
0028985542
-
Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa
-
Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J: Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics 25:192-198, 1995a
-
(1995)
Genomics
, vol.25
, pp. 192-198
-
-
Pulkkinen, L.1
Gerecke, D.R.2
Christiano, A.M.3
Wagman, D.W.4
Burgeson, R.E.5
Uitto, J.6
-
29
-
-
0029067313
-
Detection of sequence variants in the gene encoding the β3 chain of laminin-5 (LAMB3)
-
Pulkkinen L, McGrath JA, Christiano AM, Uitto J: Detection of sequence variants in the gene encoding the β3 chain of laminin-5 (LAMB3). Hum Mutat 6:77-84, 1995b
-
(1995)
Hum Mutat
, vol.6
, pp. 77-84
-
-
Pulkkinen, L.1
McGrath, J.A.2
Christiano, A.M.3
Uitto, J.4
-
30
-
-
8244259182
-
Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis bullosa
-
Pulkkinen L, McGrath J, Airenne T, et al: Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis bullosa. Mol Med 3:124-135, 1997a
-
(1997)
Mol Med
, vol.3
, pp. 124-135
-
-
Pulkkinen, L.1
McGrath, J.2
Airenne, T.3
-
31
-
-
0030742445
-
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
-
Pulkkinen L, Meneguzzi G, McGrath JA, et al: Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol 109:232-237, 1997b
-
(1997)
J Invest Dermatol
, vol.109
, pp. 232-237
-
-
Pulkkinen, L.1
Meneguzzi, G.2
McGrath, J.A.3
-
32
-
-
0031657973
-
Molecular analysis of the human laminin α3a chain gene (LAMA3a): A strategy for mutation-identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa
-
Pulkkinen L, Cserhalmi-Friedman PB, Tang M, Ryan MC, Uitto J, Christiano AM: Molecular analysis of the human laminin α3a chain gene (LAMA3a): A strategy for mutation-identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Lab Invest 78:1067-1076, 1998
-
(1998)
Lab Invest
, vol.78
, pp. 1067-1076
-
-
Pulkkinen, L.1
Cserhalmi-Friedman, P.B.2
Tang, M.3
Ryan, M.C.4
Uitto, J.5
Christiano, A.M.6
-
33
-
-
0032448061
-
Heterozygosity of premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa
-
Pulkkinen L, Uitto J: Heterozygosity of premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. J Invest Dermatol 111:1244-1246, 1998
-
(1998)
J Invest Dermatol
, vol.111
, pp. 1244-1246
-
-
Pulkkinen, L.1
Uitto, J.2
-
34
-
-
0035095432
-
Compound heterozygosity for a recurrent 16.5-kb A/u-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
-
Ringpfeil F, Nakano A, Uitto J, Pulkkinen L: Compound heterozygosity for a recurrent 16.5-kb A/u-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet 68:642-652, 2001
-
(2001)
Am J Hum Genet
, vol.68
, pp. 642-652
-
-
Ringpfeil, F.1
Nakano, A.2
Uitto, J.3
Pulkkinen, L.4
-
35
-
-
0035132809
-
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa
-
Ruzzi L, Pas H, Posteraro P, et al: A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol 116:182-187, 2001
-
(2001)
J Invest Dermatol
, vol.116
, pp. 182-187
-
-
Ruzzi, L.1
Pas, H.2
Posteraro, P.3
-
36
-
-
0042736259
-
A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa
-
Scaturro M, Posteraro P, Mastrogiacomo A, et al: A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. Biochem Biophys Res Commun 12:96-103, 2003
-
(2003)
Biochem Biophys Res Commun
, vol.12
, pp. 96-103
-
-
Scaturro, M.1
Posteraro, P.2
Mastrogiacomo, A.3
-
37
-
-
8044260815
-
Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa
-
Shimizu H, Takizawa Y, McGrath JA, et al: Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res 289:174-176, 1996
-
(1996)
Arch Dermatol Res
, vol.289
, pp. 174-176
-
-
Shimizu, H.1
Takizawa, Y.2
McGrath, J.A.3
-
38
-
-
0031930182
-
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing
-
Takizawa Y, Shimizu H, Pulkkinen L, et al: Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 110:174-178, 1998
-
(1998)
J Invest Dermatol
, vol.110
, pp. 174-178
-
-
Takizawa, Y.1
Shimizu, H.2
Pulkkinen, L.3
-
39
-
-
0037629726
-
Molecular mechanisms of exon shuffling: Illegitimate recombination
-
van Rijk A, Bloemendal H: Molecular mechanisms of exon shuffling: Illegitimate recombination. Genetica 118:245-249, 2003
-
(2003)
Genetica
, vol.118
, pp. 245-249
-
-
Van Rijk, A.1
Bloemendal, H.2
-
40
-
-
0028987192
-
Transforming growth factor-β1 modulates β1 and β5 integrin receptors and induces the de novo expression of the avβ6 heterodimer in normal human keratinocytes: Implications for wound healing
-
Zambruno G, Marchisio PC, Marconi A, Vaschieri C, Melchiori A, Giannetti A, De Luca M: Transforming growth factor-β1 modulates β1 and β5 integrin receptors and induces the de novo expression of the avβ6 heterodimer in normal human keratinocytes: Implications for wound healing. J Cell Biol 129:853-865, 1995
-
(1995)
J Cell Biol
, vol.129
, pp. 853-865
-
-
Zambruno, G.1
Marchisio, P.C.2
Marconi, A.3
Vaschieri, C.4
Melchiori, A.5
Giannetti, A.6
De Luca, M.7
|