-
1
-
-
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 81:149s-156s, 1983
-
(1983)
J Invest Dermatol
, vol.81
-
-
Anton-Lamprecht, I.1
-
2
-
-
0002381803
-
The skin
-
Papadimitriou JM, Henderson DW, Spagnolo DV (eds). Edinburgh: Churchill Livingstone
-
Anton-Lamprecht I. The skin. In: Papadimitriou JM, Henderson DW, Spagnolo DV (eds). Diagnostic Ultrastructure of Non-neoplastic Diseases. Edinburgh: Churchill Livingstone, 1992: pp. 459-550
-
(1992)
Diagnostic Ultrastructure of Non-neoplastic Diseases
, pp. 459-550
-
-
Anton-Lamprecht, I.1
-
3
-
-
0020031469
-
Epidermolysis bullosa herpetiformis Dowling-Meara: Report of a case and pathogenesis
-
Anton-Lamprecht I, Schnyder UW: Epidermolysis bullosa herpetiformis Dowling-Meara: report of a case and pathogenesis. Dermatologica 164:221-235, 1982
-
(1982)
Dermatologica
, vol.164
, pp. 221-235
-
-
Anton-Lamprecht, I.1
Schnyder, U.W.2
-
4
-
-
0027943989
-
A human keratin 14 'knockout': 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 'knockout': the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev 21:2574-2587, 1994
-
(1994)
Genes Dev
, vol.21
, 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
-
5
-
-
0001248650
-
α-Helix coiled-coils - A widespread motif in proteins
-
Cohen C, Parry DAD: α-Helix coiled-coils - a widespread motif in proteins. Trends Biochem Sci 11:245-248, 1986
-
(1986)
Trends Biochem Sci
, vol.11
, pp. 245-248
-
-
Cohen, C.1
Parry, D.A.D.2
-
6
-
-
0025130161
-
Structural features in the heptad substructure and longer range repeats of two-stranded a-fibrous proteins
-
Conway JF, Parry DA: Structural features in the heptad substructure and longer range repeats of two-stranded a-fibrous proteins. Int J Biol Macromol 12:328-334, 1990
-
(1990)
Int J Biol Macromol
, vol.12
, pp. 328-334
-
-
Conway, J.F.1
Parry, D.A.2
-
7
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper DN, Youssoufian H: The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155, 1988
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
8
-
-
0030455978
-
Human keratin diseases: Hereditary fragility of specific epithelial tissues
-
Corden LD, McLean WHI: Human keratin diseases: Hereditary fragility of specific epithelial tissues. Exp Dermatol 5:297-307, 1996
-
(1996)
Exp Dermatol
, vol.5
, pp. 297-307
-
-
Corden, L.D.1
McLean, W.H.I.2
-
9
-
-
0026067709
-
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
-
Fine J-D, Bauer EA, Briggaman RA, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. 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
-
10
-
-
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
-
11
-
-
0000292472
-
Epidermolysis bullosa
-
Rimoin DL, Connor JM, Pyeritz RE (eds). Edinburgh: Churchill Livingstone
-
Gedde-Dabl T Jr. Anton-Lamprecht I. Epidermolysis bullosa. In: Rimoin DL, Connor JM, Pyeritz RE (eds). Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd edn. Edinburgh: Churchill Livingstone, 1996:pp 1225-1278
-
(1996)
Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd Edn.
, pp. 1225-1278
-
-
Gedde-Dabl T., Jr.1
Anton-Lamprecht, I.2
-
12
-
-
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
-
13
-
-
0025882273
-
Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain
-
Hatzfeld M, Weber K: Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J Cell Sci 99:351-362, 1991
-
(1991)
J Cell Sci
, vol.99
, pp. 351-362
-
-
Hatzfeld, M.1
Weber, K.2
-
14
-
-
0031056978
-
A new keratin 2e mutation in ichthyosis bullosa of Siemens
-
Jones DO, Watts C, Mills C, Sharpe G, Marks R, Bowden PE: A new keratin 2e mutation in ichthyosis bullosa of Siemens. J Invest Dermatol 108:354-356, 1997
-
(1997)
J Invest Dermatol
, vol.108
, pp. 354-356
-
-
Jones, D.O.1
Watts, C.2
Mills, C.3
Sharpe, G.4
Marks, R.5
Bowden, P.E.6
-
15
-
-
0029865563
-
The molecular basis for inherited bullous diseases
-
Korge BP, Krieg T: The molecular basis for inherited bullous diseases. J Mol Med 74:59-70, 1996
-
(1996)
J Mol Med
, vol.74
, pp. 59-70
-
-
Korge, B.P.1
Krieg, T.2
-
16
-
-
0031765706
-
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients
-
Korge BP, Healy E, Munro CS, et al: A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. J Invest Dermatol 111:896-899, 1998
-
(1998)
J Invest Dermatol
, vol.111
, pp. 896-899
-
-
Korge, B.P.1
Healy, E.2
Munro, C.S.3
-
17
-
-
0028037332
-
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene
-
Kremer H, Zeeuwen P, McLean WHI, et al: Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol 103:286-289, 1994
-
(1994)
J Invest Dermatol
, vol.103
, pp. 286-289
-
-
Kremer, H.1
Zeeuwen, P.2
McLean, W.H.I.3
-
18
-
-
0028063996
-
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)
-
McLean WH, Eady RA, Dopping-Hepenstal PJ, et al: Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol 102:24-30, 1994
-
(1994)
J Invest Dermatol
, vol.102
, pp. 24-30
-
-
McLean, W.H.1
Eady, R.A.2
Dopping-Hepenstal, P.J.3
-
19
-
-
0031767288
-
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
-
Müller FB, Küster W, Bruckner-Tuderman L, 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-Tuderman, L.3
Korge, B.P.4
-
20
-
-
0029807845
-
The genetic basis of hereditary blistering disorders
-
Paller AS: The genetic basis of hereditary blistering disorders. Curr Opin Pediatr 8:367-371, 1996
-
(1996)
Curr Opin Pediatr
, vol.8
, pp. 367-371
-
-
Paller, A.S.1
-
21
-
-
0027935777
-
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
-
Rothnagel JA, Traupe H, Wojeik S et al: Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nature Genet 7:485-490, 1994
-
(1994)
Nature Genet
, vol.7
, pp. 485-490
-
-
Rothnagel, J.A.1
Traupe, H.2
Wojeik, S.3
-
22
-
-
0028172696
-
A functional 'knockout' of human keratin 14
-
Rugg EL, McLean WHI, Lane EB, et al: A functional 'knockout' of human keratin 14. Genes and Dev 8:2563-2573, 1994
-
(1994)
Genes and Dev
, vol.8
, pp. 2563-2573
-
-
Rugg, E.L.1
McLean, W.H.I.2
Lane, E.B.3
-
23
-
-
0027160195
-
Keratin intermediate filament structure: Cross linking studies yield quantitative information on molecule dimension and mechanism of assembly
-
Steinert PM, Marekov LN, Fraser RDB, Parry DAD: Keratin intermediate filament structure: Cross linking studies yield quantitative information on molecule dimension and mechanism of assembly. J Mol Biol 230:436-452, 1993
-
(1993)
J Mol Biol
, vol.230
, pp. 436-452
-
-
Steinert, P.M.1
Marekov, L.N.2
Fraser, R.D.B.3
Parry, D.A.D.4
-
24
-
-
0031052765
-
Primers for exon-specific 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 exon-specific 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
-
25
-
-
0025976155
-
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
-
Vassar R, Coulombe PA, Degenstein L, Albers K, Fuchs E: Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64:365-380, 1991
-
(1991)
Cell
, vol.64
, pp. 365-380
-
-
Vassar, R.1
Coulombe, P.A.2
Degenstein, L.3
Albers, K.4
Fuchs, E.5
-
26
-
-
0026640553
-
The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro
-
Wilson AK, Coulombe PA, Fuchs E: The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro. J Cell Biol 119:401-414, 1992
-
(1992)
J Cell Biol
, vol.119
, pp. 401-414
-
-
Wilson, A.K.1
Coulombe, P.A.2
Fuchs, E.3
-
27
-
-
0031468356
-
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
-
Winter H, Rogers MA, Gebhardt M, et al: A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 101:165-169, 1997a
-
(1997)
Hum Genet
, vol.101
, pp. 165-169
-
-
Winter, H.1
Rogers, M.A.2
Gebhardt, M.3
-
28
-
-
0030747138
-
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
-
Winter H, Rogers MA, Langbein L, et al: Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nature Genet 16:372-374, 1997b
-
(1997)
Nature Genet
, vol.16
, pp. 372-374
-
-
Winter, H.1
Rogers, M.A.2
Langbein, L.3
|