-
1
-
-
0026612429
-
A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
-
Chipey C C, Korge B P, Markova N et al. A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992: 70: 821-828.
-
(1992)
Cell
, vol.70
, pp. 821-828
-
-
Chipev, C.C.1
Korge, B.P.2
Markova, N.3
-
2
-
-
0026781694
-
Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis
-
Rothnagel J A, Dominey A M, Dempsey L D et al. Mutations in the rod domains of keratin 1 and 10 in epidermolytic hyperkeratosis. Science 1992: 257: 112/-1130.
-
(1992)
Science
, vol.257
, pp. 1128-1130
-
-
Rothnagel, J.A.1
Dominey, A.M.2
Dempsey, L.D.3
-
3
-
-
0032965997
-
Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation
-
Irvine A D, McLean W H. Human keratin diseases: The increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999: 140: 815-828.
-
(1999)
Br J Dermatol
, vol.140
, pp. 815-828
-
-
Irvine, A.D.1
McLean, W.H.2
-
4
-
-
0020506402
-
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: Pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis
-
Anton-Lamprecht I. Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: Pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J Invest Dermatol 1983: 81: 149s-159s.
-
(1983)
J Invest Dermatol
, vol.81
-
-
Anton-Lamprecht, I.1
-
5
-
-
0026636535
-
Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
-
Ishida-Yamamoto A, McGrath J A, Judge M R, Leigh I M, Lane E B, Eady R A J. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). J Invest Dermatol 1992: 99: 19-26.
-
(1992)
J Invest Dermatol
, vol.99
, pp. 19-26
-
-
Ishida-Yamamoto, A.1
McGrath, J.A.2
Judge, M.R.3
Leigh, I.M.4
Lane, E.B.5
Eady, R.A.J.6
-
6
-
-
0025338188
-
Cornified cell envelope
-
Hohl D. Cornified cell envelope. Dermatologica 1990: 180: 201-211.
-
(1990)
Dermatologica
, vol.180
, pp. 201-211
-
-
Hohl, D.1
-
7
-
-
0001490507
-
The cornified envelope: A key structure of terminally differentiated keratinocytes
-
In: Darmon M, Blumenberg M, eds; San Diego: Academic Press, Inc.
-
Reichert U, Michel S, Schmidt R. The cornified envelope: A key structure of terminally differentiated keratinocytes. In: Darmon M, Blumenberg M, eds. Molecular Biology of the Skin. San Diego: Academic Press, Inc., 1993: 107-150.
-
(1993)
Molecular Biology of the Skin
, pp. 107-150
-
-
Reichert, U.1
Michel, S.2
Schmidt, R.3
-
8
-
-
0029050246
-
The proteins elafin, fialgrin, keratin intermediate filaments, loricirn, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cronified cell envelope
-
Steinert P M, Marekov L N. The proteins elafin, fialgrin, keratin intermediate filaments, loricirn, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cronified cell envelope. J Biol Chem 1995: 270: 17702-17711.
-
(1995)
J Biol Chem
, vol.270
, pp. 17702-17711
-
-
Steinert, P.M.1
Marekov, L.N.2
-
9
-
-
0028947560
-
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
-
Huber M, Rettler I, Bernasconi K et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995: 267: 525-528.
-
(1995)
Science
, vol.267
, pp. 525-528
-
-
Huber, M.1
Rettler, I.2
Bernasconi, K.3
-
10
-
-
0028817683
-
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
-
Russell L J, DiGiovanna J J, Rogers G R et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nature Genet 1995: 9: 279-283.
-
(1995)
Nature Genet
, vol.9
, pp. 279-283
-
-
Russell, L.J.1
DiGiovanna, J.J.2
Rogers, G.R.3
-
11
-
-
0030869688
-
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population
-
Laiho E, Ignatius J, Mikkola H et al. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population. Am J Hum Genet 1997: 61: 529-538.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 529-538
-
-
Laiho, E.1
Ignatius, J.2
Mikkola, H.3
-
12
-
-
0035113750
-
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
-
Akiyama M, Takizawa Y, Kokaji T, Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001: 144: 401-407.
-
(2001)
Br J Dermatol
, vol.144
, pp. 401-407
-
-
Akiyama, M.1
Takizawa, Y.2
Kokaji, T.3
Shimizu, H.4
-
13
-
-
0035042785
-
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene
-
Cserhalmi-Friedman P B, Milstone L M, Christiano A M. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. Br J Dermatol 2001: 144: 726-730.
-
(2001)
Br J Dermatol
, vol.144
, pp. 726-730
-
-
Cserhalmi-Friedman, P.B.1
Milstone, L.M.2
Christiano, A.M.3
-
14
-
-
0031804301
-
Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex
-
Akiyama M, Christiano A M, Yoneda K, Shimizu H. Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex. J Invest Dermatol 1998: 111: 133-138.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 133-138
-
-
Akiyama, M.1
Christiano, A.M.2
Yoneda, K.3
Shimizu, H.4
-
15
-
-
0025339380
-
Identification of a major keratinocyte cell envelope protein, loricrin
-
Mehrel T, Hohl D, Rothnagel J A et al. Identification of a major keratinocyte cell envelope protein, loricrin. Cell 1990: 61: 1103-1112.
-
(1990)
Cell
, vol.61
, pp. 1103-1112
-
-
Mehrel, T.1
Hohl, D.2
Rothnagel, J.A.3
-
16
-
-
0026722526
-
Structure and organization of the human transglutaminase 1 gene
-
Kim I-G, McBride O W, Wang M, Kim S-Y, Idler W W, Steinert P M. Structure and organization of the human transglutaminase 1 gene. J Biol Chem 1992: 267: 7710-7717.
-
(1992)
J Biol Chem
, vol.267
, pp. 7710-7717
-
-
Kim, I.-G.1
McBride, O.W.2
Wang, M.3
Kim, S.-Y.4
Idler, W.W.5
Steinert, P.M.6
-
18
-
-
0030784777
-
The fate of trichohyalin: Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases
-
Tarcsa E, Marekov L N, Andreoli J et al. The fate of trichohyalin: Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases. J Biol Chem 1997: 272: 27893-27901.
-
(1997)
J Biol Chem
, vol.272
, pp. 27893-27901
-
-
Tarcsa, E.1
Marekov, L.N.2
Andreoli, J.3
-
19
-
-
0019423594
-
Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase technique: A comparison between ABC and unlabeled antibody (PAP) procedures
-
Hsu S M, Raine L, Fanger H. Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase technique: A comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem 1981: 29: 577-580.
-
(1981)
J Histochem Cytochem
, vol.29
, pp. 577-580
-
-
Hsu, S.M.1
Raine, L.2
Fanger, H.3
-
20
-
-
0033067751
-
Periderm cells form cornified cell envelope in their regression process during human epidermal development
-
Akiyama M, Smith L T, Yoneda K, Holbrook K A, Hohl D, Shimizu H. Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol 1999: 112: 903-909.
-
(1999)
J Invest Dermatol
, vol.112
, pp. 903-909
-
-
Akiyama, M.1
Smith, L.T.2
Yoneda, K.3
Holbrook, K.A.4
Hohl, D.5
Shimizu, H.6
-
21
-
-
0024378684
-
Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy
-
Shimizu H, McDonald J N, Kennedy A R, Eady R A. Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy. Arch Dermatol Res 1989: 281: 443-448.
-
(1989)
Arch Dermatol Res
, vol.281
, pp. 443-448
-
-
Shimizu, H.1
McDonald, J.N.2
Kennedy, A.R.3
Eady, R.A.4
-
22
-
-
0026729205
-
The use of silver-enhanced 1-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin
-
Shimizu H, Ishida-Yamamoto A, Eady R A. The use of silver-enhanced 1-nm gold probes for light and electron microscopic localization of intra- and extracellular antigens in skin. J Histochem Cytochem 1992: 40: 883-888.
-
(1992)
J Histochem Cytochem
, vol.40
, pp. 883-888
-
-
Shimizu, H.1
Ishida-Yamamoto, A.2
Eady, R.A.3
-
23
-
-
0024242883
-
Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human keratin 10
-
Rieger M, Franke W W. Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human keratin 10. J Mol Biol 1988: 204: 841-856.
-
(1988)
J Mol Biol
, vol.204
, pp. 841-856
-
-
Rieger, M.1
Franke, W.W.2
-
24
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Den Dunnen J T, Antonarakis S E. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 2000: 15: 7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
25
-
-
0031882479
-
Structural organization of cornified cell envelopes and alterations in inherited skin disorders
-
Ishida-Yamamoto A, Iizuka H. Structural organization of cornified cell envelopes and alterations in inherited skin disorders. Exp Dermatol 1998: 7: 1-10.
-
(1998)
Exp Dermatol
, vol.7
, pp. 1-10
-
-
Ishida-Yamamoto, A.1
Iizuka, H.2
-
26
-
-
0028790938
-
Altered distribution of keratinization markers in epidermolytic hyperkeratosis
-
Ishida-Yamamoto A, Iizuka H, Manabe M et al. Altered distribution of keratinization markers in epidermolytic hyperkeratosis. Arch Dermatol Res 1995: 287: 705-711.
-
(1995)
Arch Dermatol Res
, vol.287
, pp. 705-711
-
-
Ishida-Yamamoto, A.1
Iizuka, H.2
Manabe, M.3
-
27
-
-
0035047665
-
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
-
Sprecher E, Ishida-Yamamoto A, Becker O M et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 2001: 116: 511-519.
-
(2001)
J Invest Dermatol
, vol.116
, pp. 511-519
-
-
Sprecher, E.1
Ishida-Yamamoto, A.2
Becker, O.M.3
-
28
-
-
0026725118
-
Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis
-
Fuchs E, Esteves R A, Coulombe P A. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. Proc Natl Acad Sci USA 1992: 89: 6906-6910.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6906-6910
-
-
Fuchs, E.1
Esteves, R.A.2
Coulombe, P.A.3
-
29
-
-
0029670060
-
Gene targeting at the mouse cytokeratin 10 locus: Severe skin fragility and changes of cytokeratin expression in the epidermis
-
Porter R M, Leitgeb S, Melton D W, Swensson O, Eady R A, Magin T M. Gene targeting at the mouse cytokeratin 10 locus: Severe skin fragility and changes of cytokeratin expression in the epidermis. J Cell Biol 1996: 132: 925-936.
-
(1996)
J Cell Biol
, vol.132
, pp. 925-936
-
-
Porter, R.M.1
Leitgeb, S.2
Melton, D.W.3
Swensson, O.4
Eady, R.A.5
Magin, T.M.6
-
30
-
-
0030817021
-
Out of balance: Consequences of a partial keratin 10 knockout
-
Reichelt J, Bauer C, Porter R, Lane E, Magin V. Out of balance: Consequences of a partial keratin 10 knockout. J Cell Sci 1997: 110: 2175-2186.
-
(1997)
J Cell Sci
, vol.110
, pp. 2175-2186
-
-
Reichelt, J.1
Bauer, C.2
Porter, R.3
Lane, E.4
Magin, V.5
-
31
-
-
0031808587
-
The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE
-
Porter RM, Reichelt J, Lunny D P, Magin T M, Lane E B. The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE. J Invest Dermatol 1998: 110: 951-957.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 951-957
-
-
Porter, R.M.1
Reichelt, J.2
Lunny, D.P.3
Magin, T.M.4
Lane, E.B.5
-
32
-
-
0032835593
-
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis
-
Reichelt J, Doering T, Schnetz E, Fartasch M, Sandhoff K, Magin A M. Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis. J Invest Dermatol 1999: 113: 329-334.
-
(1999)
J Invest Dermatol
, vol.113
, pp. 329-334
-
-
Reichelt, J.1
Doering, T.2
Schnetz, E.3
Fartasch, M.4
Sandhoff, K.5
Magin, A.M.6
-
33
-
-
0033778324
-
Impaired cutaneous permeability barrier function, skin hydration, and sphingomyelinase activity in keratin 10 deficient mice
-
Jensen J M, Schutze S, Neumann C, Proksch E. Impaired cutaneous permeability barrier function, skin hydration, and sphingomyelinase activity in keratin 10 deficient mice. J Invest Dermatol 2000: 115: 708-713.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 708-713
-
-
Jensen, J.M.1
Schutze, S.2
Neumann, C.3
Proksch, E.4
-
34
-
-
0026338017
-
Transglutaminases: Multifunctional cross-linking enzyme that stabilizes tissues
-
Greenberg C S, Birckbichler P J, Rice R H. Transglutaminases: Multifunctional cross-linking enzyme that stabilizes tissues. FASEB J 1991: 5: 3071-3077.
-
(1991)
FASEB J
, vol.5
, pp. 3071-3077
-
-
Greenberg, C.S.1
Birckbichler, P.J.2
Rice, R.H.3
-
35
-
-
0028135470
-
Genetic and clinical mosaicism in a type of epidermal nevus
-
Paller A S, Syder A J, Chan Y M et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 1994: 331: 1408-1415.
-
(1994)
N Engl J Med
, vol.331
, pp. 1408-1415
-
-
Paller, A.S.1
Syder, A.J.2
Chan, Y.M.3
-
36
-
-
0026511054
-
Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations
-
Letai A, Coulombe P A, Fuchs E. Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 1992: 116: 1181-1195.
-
(1992)
J Cell Biol
, vol.116
, pp. 1181-1195
-
-
Letai, A.1
Coulombe, P.A.2
Fuchs, E.3
-
37
-
-
0025976155
-
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
-
Vassar R, Coulombe P A, Degenstein L, Albers K, Fuchs E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 1991: 64: 365-380.
-
(1991)
Cell
, vol.64
, pp. 365-380
-
-
Vassar, R.1
Coulombe, P.A.2
Degenstein, L.3
Albers, K.4
Fuchs, E.5
-
38
-
-
0027160195
-
Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly
-
Steinert P M, Marekov L N, Fraser R D, Parry D A. Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol 1993: 230: 436-452.
-
(1993)
J Mol Biol
, vol.230
, pp. 436-452
-
-
Steinert, P.M.1
Marekov, L.N.2
Fraser, R.D.3
Parry, D.A.4
-
39
-
-
0028347894
-
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity
-
Syder A, Yu Q, Paller A, Giudice G, Pearson R, Fuchs E. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest 1994: 93: 1533-1542.
-
(1994)
J Clin Invest
, vol.93
, pp. 1533-1542
-
-
Syder, A.1
Yu, Q.2
Paller, A.3
Giudice, G.4
Pearson, R.5
Fuchs, E.6
-
40
-
-
0031737898
-
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)
-
Shemanko C S, Mellerio J E, Tidman M J, Lane E B, Eady R A. Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). J Invest Dermatol 1998: 111: 893-895.
-
(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
-
41
-
-
0035725127
-
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes
-
Cummins R E, Klingberg S, Wesley J, Rogers M, Zhao Y, Murrell D F. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol 2001: 117: 1103-1107.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 1103-1107
-
-
Cummins, R.E.1
Klingberg, S.2
Wesley, J.3
Rogers, M.4
Zhao, Y.5
Murrell, D.F.6
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