-
1
-
-
84925734100
-
Ichthyoses and related mendelian disorders of cornification (MEDOC)
-
in Irvine A, Hoger P, Yan A (eds): In press
-
Hohl D, Williams ML: Ichthyoses and related mendelian disorders of cornification (MEDOC); in Irvine A, Hoger P, Yan A (eds): Textbook of Pediatric Dermatology. In press.
-
Textbook of Pediatric Dermatology
-
-
Hohl, D.1
Williams, M.L.2
-
2
-
-
0028110879
-
Clinical heterogeneity in epidermolytic hyperkeratosis
-
Di Giovanna JJ, Bale SJ: Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 1994; 130:1026-1035.
-
(1994)
Arch Dermatol
, vol.130
, pp. 1026-1035
-
-
Di Giovanna, J.J.1
Bale, S.J.2
-
3
-
-
0026749966
-
Annular epidermolytic ichthyosis: A unique phenotype
-
Sahn EE, Weimer CE Jr, Garen PD: Annular epidermolytic ichthyosis: A unique phenotype. J Am Acad Dermatol 1992;27:348-355.
-
(1992)
J Am Acad Dermatol
, vol.27
, pp. 348-355
-
-
Sahn, E.E.1
Weimer, C.E.2
Garen, P.D.3
-
4
-
-
0031044639
-
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma
-
Joh GY, Traupe H, Metze D, et al: A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol 1997;108:357-361.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 357-361
-
-
Joh, G.Y.1
Traupe, H.2
Metze, D.3
-
5
-
-
0033361793
-
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1
-
Sybert VP, Francis JS, Corden LD, et al: Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet 1999;64:732-738.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 732-738
-
-
Sybert, V.P.1
Francis, J.S.2
Corden, L.D.3
-
6
-
-
0035047665
-
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
-
Sprecher E, Ishida-Yamamoto A, Becker OM, 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
-
7
-
-
0026481355
-
Retinoids in psoriasis and disorders of keratinization
-
Fritsch PO: Retinoids in psoriasis and disorders of keratinization. J Am Acad Dermatol 1992;27:S8-S14.
-
(1992)
J Am Acad Dermatol
, vol.27
-
-
Fritsch, P.O.1
-
8
-
-
0029750269
-
A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis
-
Bickenbach JR, Longley MA, Bundman DS, et al: A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis. Differentiation 1996;61:129-139.
-
(1996)
Differentiation
, vol.61
, pp. 129-139
-
-
Bickenbach, J.R.1
Longley, M.A.2
Bundman, D.S.3
-
9
-
-
0026781694
-
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
-
Rothnagel JA, Dominey AM, Dempsey LD, et al: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992;257: 1128-1130.
-
(1992)
Science
, vol.257
, pp. 1128-1130
-
-
Rothnagel, J.A.1
Dominey, A.M.2
Dempsey, L.D.3
-
10
-
-
0026699760
-
The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes
-
Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E: The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes. Cell 1992;70:811-819.
-
(1992)
Cell
, vol.70
, pp. 811-819
-
-
Cheng, J.1
Syder, A.J.2
Yu, Q.C.3
Letai, A.4
Paller, A.S.5
Fuchs, E.6
-
11
-
-
0026612429
-
A leucineproline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
-
Chipev CC, Korge BP, Markova N, et al: A leucineproline 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
-
12
-
-
0027958473
-
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis
-
Chipev CC, Yang JM, Di Giovanna JJ, et al: Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. Am J Hum Genet 1994;54:179-190.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 179-190
-
-
Chipev, C.C.1
Yang, J.M.2
Di Giovanna, J.J.3
-
13
-
-
0028347894
-
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis: Correlation between location and disease severity
-
Syder AJ, Yu QC, Paller AS, 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.J.1
Yu, Q.C.2
Paller, A.S.3
Giudice, G.4
Pearson, R.5
Fuchs, E.6
-
14
-
-
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 1994;102:24-30.
-
(1994)
J Invest Dermatol
, vol.102
, pp. 24-30
-
-
McLean, W.H.1
Eady, R.A.2
Dopping-Hepenstal, P.J.3
-
15
-
-
0029813708
-
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis
-
Yang JM, Nam K, Park KB, et al: A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol 1996;107:439-441.
-
(1996)
J Invest Dermatol
, vol.107
, pp. 439-441
-
-
Yang, J.M.1
Nam, K.2
Park, K.B.3
-
16
-
-
0032927404
-
An asparagine to threonine substitution in the 1A domain of keratin 1: A novel mutation that causes epidermolytic hyperkeratosis
-
Arin MJ, Longley MA, Kuster W, et al: An asparagine to threonine substitution in the 1A domain of keratin 1: A novel mutation that causes epidermolytic hyperkeratosis. Exp Dermatol 1999;8:124-127.
-
(1999)
Exp Dermatol
, vol.8
, pp. 124-127
-
-
Arin, M.J.1
Longley, M.A.2
Kuster, W.3
-
17
-
-
0027742236
-
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
-
Rothnagel JA, Fisher MP, Axtell SM, et al: A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Hum Mol Genet 1993;2:2147-2150.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2147-2150
-
-
Rothnagel, J.A.1
Fisher, M.P.2
Axtell, S.M.3
-
18
-
-
33645115691
-
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
-
Muller FB, Huber M, Kinaciyan T, et al: A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet 2006;15:1133-1141.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1133-1141
-
-
Muller, F.B.1
Huber, M.2
Kinaciyan, T.3
-
19
-
-
70350055357
-
Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene
-
Terheyden P, Grimberg G, Hausser I, et al: Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. J Invest Dermatol 2009;129:2721-2723.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 2721-2723
-
-
Terheyden, P.1
Grimberg, G.2
Hausser, I.3
-
20
-
-
0025275259
-
Epidermolytic hyperkeratosis: Generalized form in children from parents with systematized linear form
-
Nazzaro V, Ermacora E, Santucci B, Caputo R: Epidermolytic hyperkeratosis: Generalized form in children from parents with systematized linear form. Br J Dermatol 1990;122:417-422.
-
(1990)
Br J Dermatol
, vol.122
, pp. 417-422
-
-
Nazzaro, V.1
Ermacora, E.2
Santucci, B.3
Caputo, R.4
-
21
-
-
0032559341
-
A structural scaffolding of intermediate filaments in health and disease
-
Fuchs E, Cleveland DW: A structural scaffolding of intermediate filaments in health and disease. Science 1998;279:514-519.
-
(1998)
Science
, vol.279
, pp. 514-519
-
-
Fuchs, E.1
Cleveland, D.W.2
-
22
-
-
0027298853
-
Dynamics of keratin assembly: Exogenous type I keratin rapidly associates with type II keratin in vivo
-
Miller RK, Khuon S, Goldman RD: Dynamics of keratin assembly: Exogenous type I keratin rapidly associates with type II keratin in vivo. J Cell Biol 1993;122:123-135.
-
(1993)
J Cell Biol
, vol.122
, pp. 123-135
-
-
Miller, R.K.1
Khuon, S.2
Goldman, R.D.3
-
23
-
-
0028572509
-
Binding of keratin intermediate filaments (K10) to the cornified envelope in mouse epidermis: Implications for barrier function
-
Ming ME, Daryanani HA, Roberts LP, Baden HP, Kvedar JC: Binding of keratin intermediate filaments (K10) to the cornified envelope in mouse epidermis: Implications for barrier function. J Invest Dermatol 1994;103:780-784.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 780-784
-
-
Ming, M.E.1
Daryanani, H.A.2
Roberts, L.P.3
Baden, H.P.4
Kvedar, J.C.5
-
24
-
-
0032757460
-
Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia
-
Steinert PM, Marekov LN: Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia. Mol Biol Cell 1999;10:4247-4261.
-
(1999)
Mol Biol Cell
, vol.10
, pp. 4247-4261
-
-
Steinert, P.M.1
Marekov, L.N.2
-
25
-
-
0033620472
-
Bricks and mortar of the epidermal barrier
-
Nemes Z, Steinert PM: Bricks and mortar of the epidermal barrier. Exp Mol Med 1999;31:5-19.
-
(1999)
Exp Mol Med
, vol.31
, pp. 5-19
-
-
Nemes, Z.1
Steinert, P.M.2
-
26
-
-
0034675888
-
The complexity and redundancy of epithelial barrier function
-
Steinert PM: The complexity and redundancy of epithelial barrier function. J Cell Biol 2000;151:F5-F8.
-
(2000)
J Cell Biol
, vol.151
-
-
Steinert, P.M.1
-
27
-
-
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-156s.
-
(1983)
J Invest Dermatol
, vol.81
-
-
Anton-Lamprecht, I.1
-
28
-
-
0013941372
-
An electron microscopic study of epidermolytic hyperkeratosis: With a special note on the keratinosome as the 'fourth' structural factor in the formation of the horny layer
-
Wilgram GF, Caulfield JB: An electron microscopic study of epidermolytic hyperkeratosis: With a special note on the keratinosome as the 'fourth' structural factor in the formation of the horny layer. Arch Dermatol 1966;94:127-143.
-
(1966)
Arch Dermatol
, vol.94
, pp. 127-143
-
-
Wilgram, G.F.1
Caulfield, J.B.2
-
29
-
-
0032234101
-
The wound repairassociated keratins 6, 16, and 17: Insights into the role of intermediate filaments in specifying keratinocyte cytoarchitecture
-
McGowan K, Coulombe PA: The wound repairassociated keratins 6, 16, and 17: Insights into the role of intermediate filaments in specifying keratinocyte cytoarchitecture. Subcell Biochem 1998;31: 173-204.
-
(1998)
Subcell Biochem
, vol.31
, pp. 173-204
-
-
McGowan, K.1
Coulombe, P.A.2
-
30
-
-
6344273968
-
Intermediate filament proteins and their associated diseases
-
Omary MB, Coulombe PA, McLean WH: Intermediate filament proteins and their associated diseases. N Engl J Med 2004;351:2087-2100.
-
(2004)
N Engl J Med
, vol.351
, pp. 2087-2100
-
-
Omary, M.B.1
Coulombe, P.A.2
McLean, W.H.3
-
31
-
-
0033818066
-
Changes in keratin 6 and keratin 10 (co-)expression in lesional and symptomless skin of spreading psoriasis
-
Mommers JM, van Rossum MM, van Erp PE, van de Kerkhof PC: Changes in keratin 6 and keratin 10 (co-)expression in lesional and symptomless skin of spreading psoriasis. Dermatology 2000;201:15-20.
-
(2000)
Dermatology
, vol.201
, pp. 15-20
-
-
Mommers, J.M.1
Van Rossum, M.M.2
Van Erp, P.E.3
Van De Kerkhof, P.C.4
-
32
-
-
0036629336
-
Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice
-
Reichelt J, Magin TM: Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice. J Cell Sci 2002;115:2639-2650.
-
(2002)
J Cell Sci
, vol.115
, pp. 2639-2650
-
-
Reichelt, J.1
Magin, T.M.2
-
33
-
-
0026636535
-
Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
-
Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane EB, Eady RA: 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.6
-
34
-
-
0034872664
-
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression
-
Virtanen M, Gedde-Dahl T Jr, Mork NJ, Leigh I, Bowden PE, Vahlquist A: Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. Acta Derm Venereol 2001;81: 163-170.
-
(2001)
Acta Derm Venereol
, vol.81
, pp. 163-170
-
-
Virtanen, M.1
Gedde-Dahl, T.2
Mork, N.J.3
Leigh, I.4
Bowden, P.E.5
Vahlquist, A.6
-
35
-
-
0031808587
-
The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE
-
Porter RM, Reichelt J, Lunny DP, Magin TM, Lane EB: 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
-
36
-
-
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
-
37
-
-
0026725118
-
Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis
-
Fuchs E, Esteves RA, Coulombe PA: 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
-
38
-
-
0035163065
-
Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice
-
Reichelt J, Bussow H, Grund C, Magin TM: Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice. Mol Biol Cell 2001;12:1557-1568.
-
(2001)
Mol Biol Cell
, vol.12
, pp. 1557-1568
-
-
Reichelt, J.1
Bussow, H.2
Grund, C.3
Magin, T.M.4
-
39
-
-
36048949627
-
Ichthyosis update: Towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders
-
Schmuth M, Gruber R, Elias PM, Williams M: Ichthyosis update: Towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol 2007;23:231-256.
-
(2007)
Adv Dermatol
, vol.23
, pp. 231-256
-
-
Schmuth, M.1
Gruber, R.2
Elias, P.M.3
Williams, M.4
-
40
-
-
0034783306
-
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis
-
Schmuth M, Yosipovitch G, Williams ML, et al: Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J Invest Dermatol 2001;117:837-847.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 837-847
-
-
Schmuth, M.1
Yosipovitch, G.2
Williams, M.L.3
-
41
-
-
0028280029
-
Selective obliteration of the epidermal calcium gradient leads to enhanced lamellar body secretion
-
Menon GK, Price LF, Bommannan B, Elias PM, Feingold KR: Selective obliteration of the epidermal calcium gradient leads to enhanced lamellar body secretion. J Invest Dermatol 1994;102:789-795.
-
(1994)
J Invest Dermatol
, vol.102
, pp. 789-795
-
-
Menon, G.K.1
Price, L.F.2
Bommannan, B.3
Elias, P.M.4
Feingold, K.R.5
-
42
-
-
0023757432
-
The cytoskeleton as a barrier to exocytosis in secretory cells
-
Aunis D, Bader MF: The cytoskeleton as a barrier to exocytosis in secretory cells. J Exp Biol 1988;139: 253-266.
-
(1988)
J Exp Biol
, vol.139
, pp. 253-266
-
-
Aunis, D.1
Bader, M.F.2
-
43
-
-
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
-
44
-
-
0028817683
-
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
-
Russell LJ, Di Giovanna JJ, Rogers GR, et al: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 1995;9:279-283.
-
(1995)
Nat Genet
, vol.9
, pp. 279-283
-
-
Russell, L.J.1
Di Giovanna, J.J.2
Rogers, G.R.3
-
45
-
-
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
-
46
-
-
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
-
47
-
-
66149155333
-
Autosomal recessive congenital ichthyosis
-
Fischer J: Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009;129:1319-1321.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 1319-1321
-
-
Fischer, J.1
-
48
-
-
0021922906
-
Heterogeneity in autosomal recessive ichthyosis: Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma
-
Williams ML, Elias PM: Heterogeneity in autosomal recessive ichthyosis: Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 1985;121:477-488.
-
(1985)
Arch Dermatol
, vol.121
, pp. 477-488
-
-
Williams, M.L.1
Elias, P.M.2
-
49
-
-
0026560698
-
Self-healing collodion baby: Evidence for autosomal recessive inheritance
-
Frenk E, de Techtermann F: Self-healing collodion baby: Evidence for autosomal recessive inheritance. Pediatr Dermatol 1992;9:95-97.
-
(1992)
Pediatr Dermatol
, vol.9
, pp. 95-97
-
-
Frenk, E.1
De Techtermann, F.2
-
50
-
-
0036750590
-
Collodion baby: A follow-up study of 17 cases
-
Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP: Collodion baby: A follow-up study of 17 cases. J Eur Acad Dermatol Venereol 2002;16:472-475.
-
(2002)
J Eur Acad Dermatol Venereol
, vol.16
, pp. 472-475
-
-
Van Gysel, D.1
Lijnen, R.L.2
Moekti, S.S.3
De Laat, P.C.4
Oranje, A.P.5
-
51
-
-
75549090184
-
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients
-
Vahlquist A, Bygum A, Ganemo A, et al: Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol 2010;130:438-443.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 438-443
-
-
Vahlquist, A.1
Bygum, A.2
Ganemo, A.3
-
52
-
-
0037313061
-
Selfhealing collodion baby: A dynamic phenotype explained by a particular transglutaminase-1 mutation
-
Raghunath M, Hennies HC, Ahvazi B, et al: Selfhealing collodion baby: A dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 2003;120:224-228.
-
(2003)
J Invest Dermatol
, vol.120
, pp. 224-228
-
-
Raghunath, M.1
Hennies, H.C.2
Ahvazi, B.3
-
53
-
-
0032779194
-
The pathogenesis of severe congenital ichthyosis of the neonate
-
Akiyama M: The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci 1999;21:96-104.
-
(1999)
J Dermatol Sci
, vol.21
, pp. 96-104
-
-
Akiyama, M.1
-
54
-
-
33748333074
-
Ichthyoses: Differential diagnosis and molecular genetics
-
Oji V, Traupe H: Ichthyoses: Differential diagnosis and molecular genetics. Eur J Dermatol 2006;16:349-359.
-
(2006)
Eur J Dermatol
, vol.16
, pp. 349-359
-
-
Oji, V.1
Traupe, H.2
-
55
-
-
33846250414
-
The South African 'bathing suit ichthyosis' is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1
-
Arita K, Jacyk WK, Wessagowit V, et al: The South African 'bathing suit ichthyosis' is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol 2007;127:490-493.
-
(2007)
J Invest Dermatol
, vol.127
, pp. 490-493
-
-
Arita, K.1
Jacyk, W.K.2
Wessagowit, V.3
-
56
-
-
67651121495
-
Transglutaminase- 1 and bathing suit ichthyosis: Molecular analysis of gene/environment interactions
-
Aufenvenne K, Oji V, Walker T, et al: Transglutaminase- 1 and bathing suit ichthyosis: Molecular analysis of gene/environment interactions. J Invest Dermatol 2009;129:2068-2071.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 2068-2071
-
-
Aufenvenne, K.1
Oji, V.2
Walker, T.3
-
58
-
-
0026338017
-
Transglutaminases: Multifunctional cross-linking enzymes that stabilize tissues
-
Greenberg CS, Birckbichler PJ, Rice RH: Transglutaminases: Multifunctional cross-linking enzymes that stabilize 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
-
59
-
-
0029050246
-
The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope
-
Steinert PM, Marekov LN: The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified 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
-
60
-
-
26444445616
-
Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity
-
Rice RH, Crumrine D, Uchida Y, Gruber R, Elias PM: Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity. Arch Dermatol Res 2005;297:127-133.
-
(2005)
Arch Dermatol Res
, vol.297
, pp. 127-133
-
-
Rice, R.H.1
Crumrine, D.2
Uchida, Y.3
Gruber, R.4
Elias, P.M.5
-
61
-
-
0027180934
-
Analysis of the cornified cell envelope in lamellar ichthyosis
-
Hohl D, Huber M, Frenk E: Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol 1993;129:618-624.
-
(1993)
Arch Dermatol
, vol.129
, pp. 618-624
-
-
Hohl, D.1
Huber, M.2
Frenk, E.3
-
62
-
-
0036617684
-
Basis for the permeability barrier abnormality in lamellar ichthyosis
-
Elias PM, Schmuth M, Uchida Y, et al: Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp Dermatol 2002;11:248-256.
-
(2002)
Exp Dermatol
, vol.11
, pp. 248-256
-
-
Elias, P.M.1
Schmuth, M.2
Uchida, Y.3
-
63
-
-
0029906097
-
Corrective gene transfer in the human skin disorder lamellar ichthyosis
-
Choate KA, Medalie DA, Morgan JR, Khavari PA: Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nat Med 1996;2:1263-1267.
-
(1996)
Nat Med
, vol.2
, pp. 1263-1267
-
-
Choate, K.A.1
Medalie, D.A.2
Morgan, J.R.3
Khavari, P.A.4
-
64
-
-
0036157925
-
Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1
-
Kuramoto N, Takizawa T, Takizawa T, et al: Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest 2002;109: 243-250.
-
(2002)
J Clin Invest
, vol.109
, pp. 243-250
-
-
Kuramoto, N.1
Takizawa, T.2
Takizawa, T.3
-
65
-
-
0031929953
-
Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: Absence of envelopes as a simple diagnostic test for lamellar ichthyosis
-
Jeon S, Djian P, Green H: Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: Absence of envelopes as a simple diagnostic test for lamellar ichthyosis. Proc Natl Acad Sci USA 1998;95:687-690.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 687-690
-
-
Jeon, S.1
Djian, P.2
Green, H.3
-
66
-
-
0347382292
-
Cross-linked envelopes in nail plate in lamellar ichthyosis
-
Rice RH, Crumrine D, Hohl D, Munro CS, Elias PM: Cross-linked envelopes in nail plate in lamellar ichthyosis. Br J Dermatol 2003;149:1050-1054.
-
(2003)
Br J Dermatol
, vol.149
, pp. 1050-1054
-
-
Rice, R.H.1
Crumrine, D.2
Hohl, D.3
Munro, C.S.4
Elias, P.M.5
-
67
-
-
0026683842
-
Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses
-
Ghadially R, Williams ML, Hou SY, Elias PM: Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 1992;99:755-763.
-
(1992)
J Invest Dermatol
, vol.99
, pp. 755-763
-
-
Ghadially, R.1
Williams, M.L.2
Hou, S.Y.3
Elias, P.M.4
-
68
-
-
0028881058
-
Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis
-
Lavrijsen AP, Bouwstra JA, Gooris GS, Weerheim A, Bodde HE, Ponec M: Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis. J Invest Dermatol 1995;105:619-624.
-
(1995)
J Invest Dermatol
, vol.105
, pp. 619-624
-
-
Lavrijsen, A.P.1
Bouwstra, J.A.2
Gooris, G.S.3
Weerheim, A.4
Bodde, H.E.5
Ponec, M.6
-
69
-
-
0027368424
-
Barrier function parameters in various keratinization disorders: Transepidermal water loss and vascular response to hexyl nicotinate
-
Lavrijsen AP, Oestmann E, Hermans J, Boddé HE, Vermeer BJ, Ponec M: Barrier function parameters in various keratinization disorders: Transepidermal water loss and vascular response to hexyl nicotinate. Br J Dermatol 1993;129:547-553.
-
(1993)
Br J Dermatol
, vol.129
, pp. 547-553
-
-
Lavrijsen, A.P.1
Oestmann, E.2
Hermans, J.3
Boddé, H.E.4
Vermeer, B.J.5
Ponec, M.6
-
70
-
-
0028100996
-
Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
-
Paige DG, Morse-Fisher N, Harper JI: Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 1994;131:23-27.
-
(1994)
Br J Dermatol
, vol.131
, pp. 23-27
-
-
Paige, D.G.1
Morse-Fisher, N.2
Harper, J.I.3
-
71
-
-
2342637194
-
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)
-
Schmuth M, Fluhr JW, Crumrine DC, et al: Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol 2004;122:909-922.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 909-922
-
-
Schmuth, M.1
Fluhr, J.W.2
Crumrine, D.C.3
-
72
-
-
0032790899
-
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
-
Maestrini E, Korge BP, Ocana-Sierra J, et al: A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999;8:1237-1243.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1237-1243
-
-
Maestrini, E.1
Korge, B.P.2
Ocana-Sierra, J.3
-
73
-
-
0021174720
-
Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome): Treatment with orally administered isotretinoin
-
Camisa C, Rossana C: Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome): Treatment with orally administered isotretinoin. Arch Dermatol 1984;120:1323-1328.
-
(1984)
Arch Dermatol
, vol.120
, pp. 1323-1328
-
-
Camisa, C.1
Rossana, C.2
-
74
-
-
0024217727
-
Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase
-
Camisa C, Hessel A, Rossana C, Parks A: Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase. Dermatologica 1988;177:341-347.
-
(1988)
Dermatologica
, vol.177
, pp. 341-347
-
-
Camisa, C.1
Hessel, A.2
Rossana, C.3
Parks, A.4
-
75
-
-
0030846028
-
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
-
Korge BP, Ishida-Yamamoto A, Punter C, et al: Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol 1997;109:604-610.
-
(1997)
J Invest Dermatol
, vol.109
, pp. 604-610
-
-
Korge, B.P.1
Ishida-Yamamoto, A.2
Punter, C.3
-
76
-
-
0031691283
-
A novel insertional mutation in loricrin in Vohwinkel's keratoderma
-
Armstrong DK, McKenna KE, Hughes AE: A novel insertional mutation in loricrin in Vohwinkel's keratoderma. J Invest Dermatol 1998;111:702-704.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 702-704
-
-
Armstrong, D.K.1
McKenna, K.E.2
Hughes, A.E.3
-
77
-
-
0032890230
-
Loricrin gene mutation in a Japanese patient with Vohwinkel's syndrome
-
Takahashi H, Ishida-Yamamoto A, Kishi A, Ohara K, Iizuka H: Loricrin gene mutation in a Japanese patient with Vohwinkel's syndrome. J Dermatol Sci 1999;19:44-47.
-
(1999)
J Dermatol Sci
, vol.19
, pp. 44-47
-
-
Takahashi, H.1
Ishida-Yamamoto, A.2
Kishi, A.3
Ohara, K.4
Iizuka, H.5
-
78
-
-
0036281127
-
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome
-
O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM: A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol 2002; 27:243-246.
-
(2002)
Clin Exp Dermatol
, vol.27
, pp. 243-246
-
-
O'Driscoll, J.1
Muston, G.C.2
McGrath, J.A.3
Lam, H.M.4
Ashworth, J.5
Christiano, A.M.6
-
79
-
-
0035487776
-
Loricrin keratoderma: A cause of congenital ichthyosiform erythroderma and collodion baby
-
Matsumoto K, Muto M, Seki S, et al: Loricrin keratoderma: A cause of congenital ichthyosiform erythroderma and collodion baby. Br J Dermatol 2001; 145:657-660.
-
(2001)
Br J Dermatol
, vol.145
, pp. 657-660
-
-
Matsumoto, K.1
Muto, M.2
Seki, S.3
-
80
-
-
15844391073
-
A molecular defect in loricrin the major component of the cornified cell envelope underlies Vohwinkel's syndrome
-
Maestrini E, Monaco AP, McGrath JA, et al: A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996;13:70-77.
-
(1996)
Nat Genet
, vol.13
, pp. 70-77
-
-
Maestrini, E.1
Monaco, A.P.2
McGrath, J.A.3
-
81
-
-
0025339380
-
Identification of a major keratinocyte cell envelope protein, loricrin
-
Mehrel T, Hohl D, Rothnagel JA, 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
-
82
-
-
0025690613
-
Biosynthetic pathways of filaggrin and loricrin - two major proteins expressed by terminally differentiated epidermal keratinocytes
-
Steven AC, Bisher ME, Roop DR, Steinert PM: Biosynthetic pathways of filaggrin and loricrin - two major proteins expressed by terminally differentiated epidermal keratinocytes. J Struct Biol 1990; 104:150-162.
-
(1990)
J Struct Biol
, vol.104
, pp. 150-162
-
-
Steven, A.C.1
Bisher, M.E.2
Roop, D.R.3
Steinert, P.M.4
-
83
-
-
0025811645
-
Characterization of human loricrin: Structure and function of a new class of epidermal cell envelope proteins
-
Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM: Characterization of human loricrin: Structure and function of a new class of epidermal cell envelope proteins. J Biol Chem 1991;266:6626-6636.
-
(1991)
J Biol Chem
, vol.266
, pp. 6626-6636
-
-
Hohl, D.1
Mehrel, T.2
Lichti, U.3
Turner, M.L.4
Roop, D.R.5
Steinert, P.M.6
-
84
-
-
0037291336
-
Loricrin keratoderma: A novel disease entity characterized by nuclear accumulation of mutant loricrin
-
Ishida-Yamamoto A: Loricrin keratoderma: A novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci 2003;31:3-8.
-
(2003)
J Dermatol Sci
, vol.31
, pp. 3-8
-
-
Ishida-Yamamoto, A.1
-
85
-
-
0032465160
-
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma
-
Suga Y, Duncan KO, Heald PW, Roop DR: A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol 1998;111:1220-1223.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 1220-1223
-
-
Suga, Y.1
Duncan, K.O.2
Heald, P.W.3
Roop, D.R.4
-
86
-
-
0034675890
-
Lessons from loricrin-deficient mice: Compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein
-
Koch PJ, de Viragh PA, Scharer E, et al: Lessons from loricrin-deficient mice: Compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol 2000;151:389-400.
-
(2000)
J Cell Biol
, vol.151
, pp. 389-400
-
-
Koch, P.J.1
De Viragh, P.A.2
Scharer, E.3
-
87
-
-
0014020752
-
Ichthyosis
-
Wells RS: Ichthyosis. Br Med J 1966;ii:1504-1506.
-
(1966)
Br Med J
, vol.2
, pp. 1504-1506
-
-
Wells, R.S.1
-
88
-
-
0024210815
-
X-linked ichthyosis and ichthyosis vulgaris: Comparison of their clinical features based on biochemical analysis
-
Okano M, Kitano Y, Yoshikawa K, Nakamura T, Matsuzawa Y, Yuasa T: X-linked ichthyosis and ichthyosis vulgaris: Comparison of their clinical features based on biochemical analysis. Br J Dermatol 1988;119:777-783.
-
(1988)
Br J Dermatol
, vol.119
, pp. 777-783
-
-
Okano, M.1
Kitano, Y.2
Yoshikawa, K.3
Nakamura, T.4
Matsuzawa, Y.5
Yuasa, T.6
-
90
-
-
66749163178
-
A homozygous frameshift mutation in the mouse flg gene facilitates enhanced percutaneous allergen priming
-
Fallon PG, Sasaki T, Sandilands A, et al: A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 2009;41:602-608.
-
(2009)
Nat Genet
, vol.41
, pp. 602-608
-
-
Fallon, P.G.1
Sasaki, T.2
Sandilands, A.3
-
91
-
-
69349087273
-
Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens
-
506.e1-6
-
Scharschmidt TC, Man MQ, Hatano Y, et al: Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens. J Allergy Clin Immunol 2009;124:496-506, 506.e1-6
-
(2009)
J Allergy Clin Immunol
, vol.124
, pp. 496-506
-
-
Scharschmidt, T.C.1
Man, M.Q.2
Hatano, Y.3
-
92
-
-
33746129175
-
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis
-
Sandilands A, O'Regan GM, Liao H, et al: Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 2006;126: 1770-1775.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1770-1775
-
-
Sandilands, A.1
O'Regan, G.M.2
Liao, H.3
-
93
-
-
34247578168
-
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
-
Sandilands A, Terron-Kwiatkowski A, Hull PR, et al: Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007; 39:650-654.
-
(2007)
Nat Genet
, vol.39
, pp. 650-654
-
-
Sandilands, A.1
Terron-Kwiatkowski, A.2
Hull, P.R.3
-
94
-
-
33645399288
-
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
-
Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al: Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38:441-446.
-
(2006)
Nat Genet
, vol.38
, pp. 441-446
-
-
Palmer, C.N.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
-
95
-
-
44649119864
-
Basis for the barrier abnormality in atopic dermatitis: Outsideinside- outside pathogenic mechanisms
-
Elias PM, Hatano Y, Williams ML: Basis for the barrier abnormality in atopic dermatitis: Outsideinside- outside pathogenic mechanisms. J Allergy Clin Immunol 2008;121:1337-1343.
-
(2008)
J Allergy Clin Immunol
, vol.121
, pp. 1337-1343
-
-
Elias, P.M.1
Hatano, Y.2
Williams, M.L.3
-
96
-
-
42149101196
-
Outside-to-inside' (and now back to 'outside') pathogenic mechanisms in atopic dermatitis
-
Elias PM, Steinhoff M: 'Outside-to-inside' (and now back to 'outside') pathogenic mechanisms in atopic dermatitis. J Invest Dermatol 2008;128:1067-1070.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 1067-1070
-
-
Elias, P.M.1
Steinhoff, M.2
-
97
-
-
0041888517
-
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1
-
Compton JG, Di Giovanna JJ, Johnston KA, Fleckman P, Bale SJ: Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Exp Dermatol 2002;11:518-526.
-
(2002)
Exp Dermatol
, vol.11
, pp. 518-526
-
-
Compton, J.G.1
Di Giovanna, J.J.2
Johnston, K.A.3
Fleckman, P.4
Bale, S.J.5
-
98
-
-
0041971159
-
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22
-
Zhong W, Cui B, Zhang Y, et al: Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. J Hum Genet 2003;48:390-392.
-
(2003)
J Hum Genet
, vol.48
, pp. 390-392
-
-
Zhong, W.1
Cui, B.2
Zhang, Y.3
-
99
-
-
33644622891
-
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
-
Smith FJ, Irvine AD, Terron-Kwiatkowski A, et al: Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38:337-342.
-
(2006)
Nat Genet
, vol.38
, pp. 337-342
-
-
Smith, F.J.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
-
100
-
-
33846280156
-
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris
-
Gruber R, Janecke A, Fauth C, Utermann G, Fritsch PO, Schmuth M: Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet 2007;15:179-184.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 179-184
-
-
Gruber, R.1
Janecke, A.2
Fauth, C.3
Utermann, G.4
Fritsch, P.O.5
Schmuth, M.6
-
101
-
-
33846820433
-
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
-
Nomura T, Sandilands A, Akiyama M, et al: Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007;119:434-440.
-
(2007)
J Allergy Clin Immunol
, vol.119
, pp. 434-440
-
-
Nomura, T.1
Sandilands, A.2
Akiyama, M.3
-
102
-
-
63049089028
-
Function of filaggrin and caspase-14 in formation and maintenance of the epithelial barrier function
-
Presland RB: Function of filaggrin and caspase-14 in formation and maintenance of the epithelial barrier function. Dermatol Sin 2009;27:1-14.
-
(2009)
Dermatol Sin
, vol.27
, pp. 1-14
-
-
Presland, R.B.1
-
103
-
-
0021987007
-
Ichthyosis vulgaris: Identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules
-
Sybert VP, Dale BA, Holbrook KA: Ichthyosis vulgaris: Identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 1985;84:191-194.
-
(1985)
J Invest Dermatol
, vol.84
, pp. 191-194
-
-
Sybert, V.P.1
Dale, B.A.2
Holbrook, K.A.3
-
104
-
-
0029813505
-
Decreased expression of filaggrin in atopic skin
-
Seguchi T, Cui CY, Kusuda S, Takahashi M, Aisu K, Tezuka T: Decreased expression of filaggrin in atopic skin. Arch Dermatol Res 1996;288:442-446.
-
(1996)
Arch Dermatol Res
, vol.288
, pp. 442-446
-
-
Seguchi, T.1
Cui, C.Y.2
Kusuda, S.3
Takahashi, M.4
Aisu, K.5
Tezuka, T.6
-
105
-
-
13244284843
-
Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope
-
Sugiura H, Ebise H, Tazawa T, et al: Large-scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope. Br J Dermatol 2005;152:146-149.
-
(2005)
Br J Dermatol
, vol.152
, pp. 146-149
-
-
Sugiura, H.1
Ebise, H.2
Tazawa, T.3
-
106
-
-
0036689022
-
Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris
-
Fleckman P, Brumbaugh S: Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. Exp Dermatol 2002;11:327-336.
-
(2002)
Exp Dermatol
, vol.11
, pp. 327-336
-
-
Fleckman, P.1
Brumbaugh, S.2
-
107
-
-
0025154931
-
Organization, structure, and polymorphisms of the human profilaggrin gene
-
Gan SQ, McBride OW, Idler WW, Markova N, Steinert PM: Organization, structure, and polymorphisms of the human profilaggrin gene. Biochemistry 1990;29:9432-9440.
-
(1990)
Biochemistry
, vol.29
, pp. 9432-9440
-
-
Gan, S.Q.1
McBride, O.W.2
Idler, W.W.3
Markova, N.4
Steinert, P.M.5
-
108
-
-
70349122194
-
Matriptasedeficient mice exhibit ichthyotic skin with a selective shift in skin microbiota
-
Scharschmidt TC, List K, Grice EA, et al: Matriptasedeficient mice exhibit ichthyotic skin with a selective shift in skin microbiota. J Invest Dermatol 2009; 129:2435-2442.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 2435-2442
-
-
Scharschmidt, T.C.1
List, K.2
Grice, E.A.3
-
109
-
-
0034523633
-
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: An animal model for the filaggrin-deficient skin disease ichthyosis vulgaris
-
Presland RB, Boggess D, Lewis SP, Hull C, Fleckman P, Sundberg JP: Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: An animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. J Invest Dermatol 2000;115:1072-1081.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 1072-1081
-
-
Presland, R.B.1
Boggess, D.2
Lewis, S.P.3
Hull, C.4
Fleckman, P.5
Sundberg, J.P.6
-
110
-
-
0031837471
-
Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris
-
Nirunsuksiri W, Zhang SH, Fleckman P: Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. J Invest Dermatol 1998;110:854-861.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 854-861
-
-
Nirunsuksiri, W.1
Zhang, S.H.2
Fleckman, P.3
-
111
-
-
0016204471
-
Keratohyalin protein in disorders of keratinization
-
Baden HP, Roth SI, Goldsmith LA, Baden SB, Lee LD: Keratohyalin protein in disorders of keratinization. J Invest Dermatol 1974;62:411-414.
-
(1974)
J Invest Dermatol
, vol.62
, pp. 411-414
-
-
Baden, H.P.1
Roth, S.I.2
Goldsmith, L.A.3
Baden, S.B.4
Lee, L.D.5
-
112
-
-
0020059317
-
Abnormal epidermal keratinization in the repeated epilation mutant mouse
-
Holbrook KA, Dale BA, Brown KS: Abnormal epidermal keratinization in the repeated epilation mutant mouse. J Cell Biol 1982;92:387-397.
-
(1982)
J Cell Biol
, vol.92
, pp. 387-397
-
-
Holbrook, K.A.1
Dale, B.A.2
Brown, K.S.3
-
115
-
-
0033002351
-
Profilaggrin requires both linker and filaggrin peptide sequences to form granules: Implications for profilaggrin processing in vivo
-
Kuechle MK, Thulin CD, Presland RB, Dale BA: Profilaggrin requires both linker and filaggrin peptide sequences to form granules: Implications for profilaggrin processing in vivo. J Invest Dermatol 1999;112:843-852.
-
(1999)
J Invest Dermatol
, vol.112
, pp. 843-852
-
-
Kuechle, M.K.1
Thulin, C.D.2
Presland, R.B.3
Dale, B.A.4
-
116
-
-
0030012757
-
Filaggrin linker segment peptide and cystatin alpha are parts of a complex of the cornified envelope of epidermis
-
Takahashi M, Tezuka T, Katunuma N: Filaggrin linker segment peptide and cystatin alpha are parts of a complex of the cornified envelope of epidermis. Arch Biochem Biophys 1996;329:123-126.
-
(1996)
Arch Biochem Biophys
, vol.329
, pp. 123-126
-
-
Takahashi, M.1
Tezuka, T.2
Katunuma, N.3
-
117
-
-
0036380857
-
Functional analysis of the profilaggrin N-terminal peptide: Identification of domains that regulate nuclear and cytoplasmic distribution
-
Pearton DJ, Dale BA, Presland RB: Functional analysis of the profilaggrin N-terminal peptide: Identification of domains that regulate nuclear and cytoplasmic distribution. J Invest Dermatol 2002; 119:661-669.
-
(2002)
J Invest Dermatol
, vol.119
, pp. 661-669
-
-
Pearton, D.J.1
Dale, B.A.2
Presland, R.B.3
-
118
-
-
0023229074
-
Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal
-
Fleckman P, Holbrook KA, Dale BA, Sybert VP: Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. J Invest Dermatol 1987;88:640-645.
-
(1987)
J Invest Dermatol
, vol.88
, pp. 640-645
-
-
Fleckman, P.1
Holbrook, K.A.2
Dale, B.A.3
Sybert, V.P.4
-
120
-
-
0020428160
-
Histidine-rich protein of the keratohyalin granules: Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum
-
Scott IR, Harding CR, Barrett JG: Histidine-rich protein of the keratohyalin granules: Source of the free amino acids, urocanic acid and pyrrolidone carboxylic acid in the stratum corneum. Biochim Biophys Acta 1982;719:110-117.
-
(1982)
Biochim Biophys Acta
, vol.719
, pp. 110-117
-
-
Scott, I.R.1
Harding, C.R.2
Barrett, J.G.3
-
121
-
-
12944329841
-
Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of K1 and filaggrin
-
Nachat R, Mechin MC, Takahara H, et al: Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of K1 and filaggrin. J Invest Dermatol 2005;124:384-393.
-
(2005)
J Invest Dermatol
, vol.124
, pp. 384-393
-
-
Nachat, R.1
Mechin, M.C.2
Takahara, H.3
-
122
-
-
0022585350
-
Filaggrin breakdown to water binding compounds during development of the rat stratum corneum is controlled by the water activity of the environment
-
Scott IR, Harding CR: Filaggrin breakdown to water binding compounds during development of the rat stratum corneum is controlled by the water activity of the environment. Dev Biol 1986;115:84-92.
-
(1986)
Dev Biol
, vol.115
, pp. 84-92
-
-
Scott, I.R.1
Harding, C.R.2
-
123
-
-
0021012816
-
The ichthyoses - pathogenesis and prenatal diagnosis: A review of recent advances
-
Williams ML: The ichthyoses - pathogenesis and prenatal diagnosis: A review of recent advances. Pediatr Dermatol 1983;1:1-24.
-
(1983)
Pediatr Dermatol
, vol.1
, pp. 1-24
-
-
Williams, M.L.1
-
124
-
-
1342325502
-
Moisturization and skin barrier function
-
Rawlings AV, Harding CR: Moisturization and skin barrier function. Dermatol Ther 2004;17(suppl 1): 43-48.
-
(2004)
Dermatol Ther
, vol.17
, Issue.SUPPL. 1
, pp. 43-48
-
-
Rawlings, A.V.1
Harding, C.R.2
-
125
-
-
0037291337
-
Changes in environmental humidity affect the water-holding property of the stratum corneum and its free amino acid content, and the expression of filaggrin in the epidermis of hairless mice
-
Katagiri C, Sato J, Nomura J, Denda M: Changes in environmental humidity affect the water-holding property of the stratum corneum and its free amino acid content, and the expression of filaggrin in the epidermis of hairless mice. J Dermatol Sci 2003;31: 29-35.
-
(2003)
J Dermatol Sci
, vol.31
, pp. 29-35
-
-
Katagiri, C.1
Sato, J.2
Nomura, J.3
Denda, M.4
-
126
-
-
0033832585
-
Evidence for the existence of a self-regulated enzymatic process within human stratum corneum - an unexpected role for urocanic acid
-
Krien P, Kermici M: Evidence for the existence of a self-regulated enzymatic process within human stratum corneum - an unexpected role for urocanic acid. J Invest Dermatol 2000;115:414-420.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 414-420
-
-
Krien, P.1
Kermici, M.2
-
127
-
-
0015475631
-
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis
-
Anton-Lamprecht I, Hofbauer M: Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Humangenetik 1972;15:261-264.
-
(1972)
Humangenetik
, vol.15
, pp. 261-264
-
-
Anton-Lamprecht, I.1
Hofbauer, M.2
-
128
-
-
36049034058
-
Basis for the epidermal functional abnormalities in granular layer-absent (AGL) vs -present (PGL) ichthyosis vulgaris
-
Schmuth M, Crumrine D, Presland RB, Fleckman P, Fritsch PO, Elias PM: Basis for the epidermal functional abnormalities in granular layer-absent (AGL) vs -present (PGL) ichthyosis vulgaris. J Invest Dermatol 2005;124:A72.
-
(2005)
J Invest Dermatol
, vol.124
-
-
Schmuth, M.1
Crumrine, D.2
Presland, R.B.3
Fleckman, P.4
Fritsch, P.O.5
Elias, P.M.6
-
129
-
-
0028094570
-
In vivo studies concerning a pH gradient in human stratum corneum and upper epidermis
-
Ohman H, Vahlquist A: In vivo studies concerning a pH gradient in human stratum corneum and upper epidermis. Acta Derm Venereol 1994;74:375-379.
-
(1994)
Acta Derm Venereol
, vol.74
, pp. 375-379
-
-
Ohman, H.1
Vahlquist, A.2
-
130
-
-
26444570089
-
Sustained serine proteases activity by prolonged increase in pH leads to degradation of lipid processing enzymes and profound alterations of barrier function and stratum corneum integrity
-
Hachem JP, Man MQ, Crumrine D, et al: Sustained serine proteases activity by prolonged increase in pH leads to degradation of lipid processing enzymes and profound alterations of barrier function and stratum corneum integrity. J Invest Dermatol 2005; 125:510-520.
-
(2005)
J Invest Dermatol
, vol.125
, pp. 510-520
-
-
Hachem, J.P.1
Man, M.Q.2
Crumrine, D.3
-
131
-
-
38749122456
-
Acute modulations in permeability barrier function regulate epidermal cornification: Role of caspase-14 and the protease-activated receptor type 2
-
Demerjian M, Hachem JP, Tschachler E, et al: Acute modulations in permeability barrier function regulate epidermal cornification: Role of caspase-14 and the protease-activated receptor type 2. Am J Pathol 2008;172:86-97.
-
(2008)
Am J Pathol
, vol.172
, pp. 86-97
-
-
Demerjian, M.1
Hachem, J.P.2
Tschachler, E.3
-
132
-
-
66049125101
-
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome
-
Briot A, Deraison C, Lacroix M, et al: Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med 2009; 206:1135-1147.
-
(2009)
J Exp Med
, vol.206
, pp. 1135-1147
-
-
Briot, A.1
Deraison, C.2
Lacroix, M.3
-
133
-
-
62649173631
-
Ichthyosis vulgaris: Novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup
-
Oji V, Seller N, Sandilands A, et al: Ichthyosis vulgaris: Novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. Br J Dermatol 2009;160:771-781.
-
(2009)
Br J Dermatol
, vol.160
, pp. 771-781
-
-
Oji, V.1
Seller, N.2
Sandilands, A.3
-
134
-
-
0036426720
-
Deficiency of epidermal protein-bound omega-hydroxyceramides in atopic dermatitis
-
Macheleidt O, Kaiser HW, Sandhoff K: Deficiency of epidermal protein-bound omega-hydroxyceramides in atopic dermatitis. J Invest Dermatol 2002; 119:166-173.
-
(2002)
J Invest Dermatol
, vol.119
, pp. 166-173
-
-
Macheleidt, O.1
Kaiser, H.W.2
Sandhoff, K.3
-
135
-
-
0028013404
-
A case of congenital reticular ichthyosiform erythroderma - ichthyosis 'en confettis'
-
Brusasco A, Tadini G, Cambiaghi S, Ermacora E, Grimalt R, Caputo R: A case of congenital reticular ichthyosiform erythroderma - ichthyosis 'en confettis'. Dermatology 1994;188:40-45.
-
(1994)
Dermatology
, vol.188
, pp. 40-45
-
-
Brusasco, A.1
Tadini, G.2
Cambiaghi, S.3
Ermacora, E.4
Grimalt, R.5
Caputo, R.6
-
136
-
-
77957737458
-
Ichthyosis en confetti is caused by dominant mutations in KRT10 and shows widespread somatic reversion via mitotic recombination
-
in press
-
Choate K, Lu Y, Zhou J, et al: Ichthyosis en confetti is caused by dominant mutations in KRT10 and shows widespread somatic reversion via mitotic recombination. Science, in press.
-
Science
-
-
Choate, K.1
Lu, Y.2
Zhou, J.3
-
138
-
-
0037275058
-
Congenital reticular ichthyosiform erythroderma - ichthyosis variegata: A case report and review of the literature
-
Krunic AL, Palcesky D, Busbey S, Medenica M: Congenital reticular ichthyosiform erythroderma - ichthyosis variegata: A case report and review of the literature. Acta Derm Venereol 2003;83:36-39.
-
(2003)
Acta Derm Venereol
, vol.83
, pp. 36-39
-
-
Krunic, A.L.1
Palcesky, D.2
Busbey, S.3
Medenica, M.4
-
139
-
-
3242698066
-
Pathophysiologic basis for growth failure in children with ichthyosis: An evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure
-
Moskowitz DG, Fowler AJ, Heyman MB, et al: Pathophysiologic basis for growth failure in children with ichthyosis: An evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr 2004;145:82-92.
-
(2004)
J Pediatr
, vol.145
, pp. 82-92
-
-
Moskowitz, D.G.1
Fowler, A.J.2
Heyman, M.B.3
-
141
-
-
0028859423
-
Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis
-
Elbaum DJ, Kurz G, MacDuff M: Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis. J Am Acad Dermatol 1995;33: 884-886.
-
(1995)
J Am Acad Dermatol
, vol.33
, pp. 884-886
-
-
Elbaum, D.J.1
Kurz, G.2
MacDuff, M.3
|