-
1
-
-
0020031469
-
Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis
-
Anton LI, Schnyder UW: Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis. Dermatologica 164:221-235, 1982
-
(1982)
Dermatologica
, vol.164
, pp. 221-235
-
-
Anton, L.I.1
Schnyder, U.W.2
-
2
-
-
0026345962
-
Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
-
Bonifas JM, Rothman AL, Epstein EH: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254:1202-1205, 1991
-
(1991)
Science
, vol.254
, pp. 1202-1205
-
-
Bonifas, J.M.1
Rothman, A.L.2
Epstein, E.H.3
-
3
-
-
0027943989
-
A human keratin 14 "knock out": The absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein
-
Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E: A human keratin 14 "knock out": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev 8:2574-2587, 1994
-
(1994)
Genes Dev
, vol.8
, pp. 2574-2587
-
-
Chan, Y.1
Anton-Lamprecht, I.2
Yu, Q.C.3
Jäckel, A.4
Zabel, B.5
Ernst, J.P.6
Fuchs, E.7
-
4
-
-
0029928468
-
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex
-
Chan YM, Cheng J, Gedde DTJ, Niemi KM, Fuchs E: Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 105:629-632, 1996
-
(1996)
J Invest Dermatol
, vol.105
, pp. 629-632
-
-
Chan, Y.M.1
Cheng, J.2
Gedde, D.T.J.3
Niemi, K.M.4
Fuchs, E.5
-
5
-
-
0027425180
-
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: Delta E375
-
Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH: A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. Hum Mol Genet 2:1971-1972, 1993
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1971-1972
-
-
Chen, M.A.1
Bonifas, J.M.2
Matsumura, K.3
Blumenfeld, A.4
Epstein, E.H.5
-
6
-
-
0028850664
-
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex
-
Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. J Invest Dermatol 105:629-632, 1995
-
(1995)
J Invest Dermatol
, vol.105
, pp. 629-632
-
-
Chen, H.1
Bonifas, J.M.2
Matsumura, K.3
Ikeda, S.4
Leyden, W.A.5
Epstein, E.H.6
-
7
-
-
33749357063
-
Intermediate filament structure: 3. Analysis of sequence homologies
-
Conway JF, Parry DAD: Intermediate filament structure: 3. Analysis of sequence homologies. Int J Biol Macromol 10:79-98, 1988
-
(1988)
Int J Biol Macromol
, vol.10
, pp. 79-98
-
-
Conway, J.F.1
Parry, D.A.D.2
-
8
-
-
7144257875
-
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex
-
Corden LD, Mellerio JE, Gratian MJ, et al: Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat 11:279-285, 1998
-
(1998)
Hum Mutat
, vol.11
, pp. 279-285
-
-
Corden, L.D.1
Mellerio, J.E.2
Gratian, M.J.3
-
9
-
-
0025861772
-
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
-
Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66:1301-1311, 1991
-
(1991)
Cell
, vol.66
, pp. 1301-1311
-
-
Coulombe, P.A.1
Hutton, M.E.2
Letai, A.3
Hebert, A.4
Paller, A.S.5
Fuchs, E.6
-
10
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
-
Fine JD, Bauer EA, Briggaman RA, et al: Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 24:119-135, 1991
-
(1991)
J Am Acad Dermatol
, vol.24
, pp. 119-135
-
-
Fine, J.D.1
Bauer, E.A.2
Briggaman, R.A.3
-
11
-
-
0030474645
-
The cytoskeleton and disease: Genetic disorders of intermediate filaments
-
Fuchs E: The cytoskeleton and disease: genetic disorders of intermediate filaments. Annu Rev Genet 30:197-231, 1996
-
(1996)
Annu Rev Genet
, vol.30
, pp. 197-231
-
-
Fuchs, E.1
-
12
-
-
0027305537
-
Peptides from the conserved ends of the rod domain of desmin disassemble intermediate filaments and reveal unexpected structural features: A circular dichroism, Fourier transform infrared, and electron microscopic study
-
Geisler N, Heimburg T, Schuenemann J, Weber K: Peptides from the conserved ends of the rod domain of desmin disassemble intermediate filaments and reveal unexpected structural features: a circular dichroism, Fourier transform infrared, and electron microscopic study. J Struct Biol 110:205-214, 1993
-
(1993)
J Struct Biol
, vol.110
, pp. 205-214
-
-
Geisler, N.1
Heimburg, T.2
Schuenemann, J.3
Weber, K.4
-
13
-
-
0028968317
-
Keratin 14 gene point mutation in the Kobner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method
-
Hachisuka H, Morita M, Karashima T, Sasai Y: Keratin 14 gene point mutation in the Kobner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method. Arch Dermatol Res 287:142-145, 1995
-
(1995)
Arch Dermatol Res
, vol.287
, pp. 142-145
-
-
Hachisuka, H.1
Morita, M.2
Karashima, T.3
Sasai, Y.4
-
14
-
-
0020025128
-
Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne
-
Haneke E, Anton LI: Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol 78:219-223, 1982
-
(1982)
J Invest Dermatol
, vol.78
, pp. 219-223
-
-
Haneke, E.1
Anton, L.I.2
-
15
-
-
0025239701
-
The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: Use of site-specific mutagenesis and recombinant protein expression
-
Hatzfeld M, Weber K: The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression. J Cell Biol 110:1199-1210, 1990
-
(1990)
J Cell Biol
, vol.110
, pp. 1199-1210
-
-
Hatzfeld, M.1
Weber, K.2
-
16
-
-
0027480639
-
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
-
Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M: A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Natl Genet 3:327-332, 1993
-
(1993)
Natl Genet
, vol.3
, pp. 327-332
-
-
Hovnanian, A.1
Pollack, E.2
Hilal, L.3
Rochat, A.4
Prost, C.5
Barrandon, Y.6
Goossens, M.7
-
17
-
-
0027339809
-
A mutation (Met→Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex
-
Humphries MM, Sheils DM, Farrar GJ, et al: A mutation (Met→Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum Mutat 2:37-42, 1993
-
(1993)
Hum Mutat
, vol.2
, pp. 37-42
-
-
Humphries, M.M.1
Sheils, D.M.2
Farrar, G.J.3
-
18
-
-
0031434675
-
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
-
Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE: A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J Invest Dermatol 109(6):815-816, 1997
-
(1997)
J Invest Dermatol
, vol.109
, Issue.6
, pp. 815-816
-
-
Irvine, A.D.1
McKenna, K.E.2
Bingham, A.3
Nevin, N.C.4
Hughes, A.E.5
-
19
-
-
10344262023
-
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
-
Jonkman MF, Heeres K, van Pas HH, et al: Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 107:764-769, 1996
-
(1996)
J Invest Dermatol
, vol.107
, pp. 764-769
-
-
Jonkman, M.F.1
Heeres, K.2
Van Pas, H.H.3
-
20
-
-
0026545645
-
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
-
Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA: A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356(6366):244-246, 1992
-
(1992)
Nature
, vol.356
, Issue.6366
, pp. 244-246
-
-
Lane, E.B.1
Rugg, E.L.2
Navsaria, H.3
Leigh, I.M.4
Heagerty, A.H.5
Ishida-Yamamoto, A.6
Eady, R.A.7
-
21
-
-
0026511054
-
Do the ends justify the means? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations
-
Letai A, Coulombe PA, Fuchs E: Do the ends justify the means? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 116:1181-1195, 1992
-
(1992)
J Cell Biol
, vol.116
, pp. 1181-1195
-
-
Letai, A.1
Coulombe, P.A.2
Fuchs, E.3
-
22
-
-
0021854339
-
Complete sequence of a gene encoding a human type I keratin: Sequences homologous to enhancer elements in the regulatory region of the gene
-
Marchuk D, McCrohon S, Fuchs E: Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. Proc Natl Acad Sci USA 82:1609-1613, 1985
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 1609-1613
-
-
Marchuk, D.1
McCrohon, S.2
Fuchs, E.3
-
23
-
-
0026606187
-
Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review
-
McGrath JA, Ishida YA, Tidman MJ, Heagerty AH, Schofield OM, Eady RA: Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review. Br J Dermatol 126:421-430, 1992
-
(1992)
Br J Dermatol
, vol.126
, pp. 421-430
-
-
McGrath, J.A.1
Ishida, Y.A.2
Tidman, M.J.3
Heagerty, A.H.4
Schofield, O.M.5
Eady, R.A.6
-
24
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
25
-
-
0031767288
-
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
-
Müller FB, Küster W, Bruckner TL, Korge BP: Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. J Invest Dermatol 111:900-902, 1998
-
(1998)
J Invest Dermatol
, vol.111
, pp. 900-902
-
-
Müller, F.B.1
Küster, W.2
Bruckner, T.L.3
Korge, B.P.4
-
26
-
-
0009723970
-
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
-
Müller FB, Anton-Lamprecht I, Küster W, Korge BP: A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. J Invest Dermatol 112:988-990, 1999
-
(1999)
J Invest Dermatol
, vol.112
, pp. 988-990
-
-
Müller, F.B.1
Anton-Lamprecht, I.2
Küster, W.3
Korge, B.P.4
-
27
-
-
0020587062
-
The 50-and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: Cell culture studies
-
Nelson WG, Sun TT: The 50-and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies. J Cell Biol 97:244-251, 1983
-
(1983)
J Cell Biol
, vol.97
, pp. 244-251
-
-
Nelson, W.G.1
Sun, T.T.2
-
28
-
-
0020694094
-
Epidermolysis bullosa simplex. A new histologic subgroup
-
Niemi KM, Kero M, Kanerva L, Mattila R: Epidermolysis bullosa simplex. A new histologic subgroup. Arch Dermatol 119:138-141, 1983
-
(1983)
Arch Dermatol
, vol.119
, pp. 138-141
-
-
Niemi, K.M.1
Kero, M.2
Kanerva, L.3
Mattila, R.4
-
29
-
-
0027527360
-
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
-
Rugg EL, Morley SM, Smith FJ, et al: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nat Genet 5:294-300, 1993
-
(1993)
Nat Genet
, vol.5
, pp. 294-300
-
-
Rugg, E.L.1
Morley, S.M.2
Smith, F.J.3
-
30
-
-
0028172696
-
A functional "knockout" of human keratin 14
-
Rugg EL, McLean WH, Lane EB, et al: A functional "knockout" of human keratin 14. Genes Dev 8(21):2563-2573, 1994
-
(1994)
Genes Dev
, vol.8
, Issue.21
, pp. 2563-2573
-
-
Rugg, E.L.1
McLean, W.H.2
Lane, E.B.3
-
31
-
-
0023840706
-
Inactivation of human keratin genes: The spectrum of mutations in the sequence of an acidic keratin pseudogene
-
Savtchenko ES, Freedberg IM, Choi IY, Blumenberg M: Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene. Mol Biol Evol 5:97-108, 1988
-
(1988)
Mol Biol Evol
, vol.5
, pp. 97-108
-
-
Savtchenko, E.S.1
Freedberg, I.M.2
Choi, I.Y.3
Blumenberg, M.4
-
32
-
-
0031737898
-
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)
-
Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA: Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). J Invest Dermatol 111:893-895, 1998
-
(1998)
J Invest Dermatol
, vol.111
, pp. 893-895
-
-
Shemanko, C.S.1
Mellerio, J.E.2
Tidman, M.J.3
Lane, E.B.4
Eady, R.A.5
-
33
-
-
0032948791
-
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
-
Sorensen CB, Ladekjær-Mikkelsen AS, Andresen BS, et al: Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol 112:184-190, 1999
-
(1999)
J Invest Dermatol
, vol.112
, pp. 184-190
-
-
Sorensen, C.B.1
Ladekjær-Mikkelsen, A.S.2
Andresen, B.S.3
-
34
-
-
0025284699
-
The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer
-
Steinert PM: The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem 265:8766-8774, 1990
-
(1990)
J Biol Chem
, vol.265
, pp. 8766-8774
-
-
Steinert, P.M.1
-
35
-
-
0027160195
-
Keratin intermediate filament structure; crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly
-
Steinert PM, Marckov LN, Fraser RDB, Parry DAD: Keratin intermediate filament structure; crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 230:436-452, 1993
-
(1993)
J Mol Biol
, vol.230
, pp. 436-452
-
-
Steinert, P.M.1
Marckov, L.N.2
Fraser, R.D.B.3
Parry, D.A.D.4
-
36
-
-
0027316910
-
A keratin 14 mutational hotspot for epidermolysis bullosa simplex, Dowling-Meara: Implications for diagnosis
-
Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A: A keratin 14 mutational hotspot for epidermolysis bullosa simplex, Dowling-Meara: Implications for diagnosis. J Invest Dermatol 101:240-243, 1993
-
(1993)
J Invest Dermatol
, vol.101
, pp. 240-243
-
-
Stephens, K.1
Sybert, V.P.2
Wijsman, E.M.3
Ehrlich, P.4
Spencer, A.5
-
37
-
-
0031052765
-
Primers for exonspecific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patients
-
Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP: Primers for exonspecific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 108:349-353, 1997
-
(1997)
J Invest Dermatol
, vol.108
, pp. 349-353
-
-
Stephens, K.1
Ehrlich, P.2
Weaver, M.3
Le, R.4
Spencer, A.5
Sybert, V.P.6
-
38
-
-
0028180965
-
A novel mutation of Leu 122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex
-
Yamanishi K, Matsuki M, Konishi K, Yasuno H: A novel mutation of Leu 122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. Hum Mol Genet 3:1171-1172, 1994
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1171-1172
-
-
Yamanishi, K.1
Matsuki, M.2
Konishi, K.3
Yasuno, H.4
|