-
1
-
-
34447095448
-
A current and online genodermatosis database
-
Leech SN, Moss C. A current and online genodermatosis database. Br. J. Dermatol. 2007 156 : 1115 48.
-
(2007)
Br. J. Dermatol.
, vol.156
, pp. 1115-48
-
-
Leech, S.N.1
Moss, C.2
-
2
-
-
2342667496
-
Translational benefits from research on rare genodermatoses
-
McGrath JA. Translational benefits from research on rare genodermatoses. Australas. J. Dermatol. 2004 45 : 89 93.
-
(2004)
Australas. J. Dermatol.
, vol.45
, pp. 89-93
-
-
McGrath, J.A.1
-
3
-
-
33644622891
-
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
-
Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat. Genet. 2006 38 : 337 42.
-
(2006)
Nat. Genet.
, vol.38
, pp. 337-42
-
-
Smith, F.J.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
Sandilands, A.4
Campbell, L.E.5
Zhao, Y.6
-
4
-
-
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, Zhao Y, Liao H, Lee SP 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 6.
-
(2006)
Nat. Genet.
, vol.38
, pp. 441-6
-
-
Palmer, C.N.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
Zhao, Y.4
Liao, H.5
Lee, S.P.6
-
5
-
-
34248530680
-
Filaggrin's fuller figure: A glimpse into the genetic architecture of atopic dermatitis
-
Sandilands A, Smith FJ, Irvine AD, McLean WH. Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J. Invest. Dermatol. 2007 127 : 1282 4.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 1282-4
-
-
Sandilands, A.1
Smith, F.J.2
Irvine, A.D.3
McLean, W.H.4
-
6
-
-
21644467614
-
Neonatal skin barrier: Structure, function, and disorders
-
Shywader T, Akland T. Neonatal skin barrier: structure, function, and disorders. Dermatol. Ther. 2005 18 : 87 103.
-
(2005)
Dermatol. Ther.
, vol.18
, pp. 87-103
-
-
Shywader, T.1
Akland, T.2
-
7
-
-
33845308573
-
The skin barrier in healthy and diseased state
-
Bouwstra JA, Ponec M. The skin barrier in healthy and diseased state. Biochim. Biophys. Acta 2006 1758 : 2080 95.
-
(2006)
Biochim. Biophys. Acta
, vol.1758
, pp. 2080-95
-
-
Bouwstra, J.A.1
Ponec, M.2
-
8
-
-
17144371855
-
The cornified envelope: A model of cell death in the skin
-
Candi E, Schmidt R, Melino G. The cornified envelope: a model of cell death in the skin. Nat. Rev. Mol. Cell Biol. 2005 6 : 328 40.
-
(2005)
Nat. Rev. Mol. Cell Biol.
, vol.6
, pp. 328-40
-
-
Candi, E.1
Schmidt, R.2
Melino, G.3
-
9
-
-
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 36.
-
(2002)
Exp. Dermatol.
, vol.11
, pp. 327-36
-
-
Fleckman, P.1
Brumbaugh, S.2
-
10
-
-
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 4.
-
(1985)
J. Invest. Dermatol.
, vol.84
, pp. 191-4
-
-
Sybert, V.P.1
Dale, B.A.2
Holbrook, K.A.3
-
11
-
-
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 6.
-
(1996)
Arch. Dermatol. Res.
, vol.288
, pp. 442-6
-
-
Seguchi, T.1
Cui, C.Y.2
Kusuda, S.3
Takahashi, M.4
Aisu, K.5
Tezuka, T.6
-
12
-
-
0035072326
-
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci
-
Cookson WO, Ubhi B, Lawrence R, Abecasis GR, Walley AJ, Cox HE et al. Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci. Nat. Genet. 2001 27 : 372 3.
-
(2001)
Nat. Genet.
, vol.27
, pp. 372-3
-
-
Cookson, W.O.1
Ubhi, B.2
Lawrence, R.3
Abecasis, G.R.4
Walley, A.J.5
Cox, H.E.6
-
13
-
-
0041888517
-
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1
-
Compton JG, DiGiovanna 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 26.
-
(2002)
Exp. Dermatol.
, vol.11
, pp. 518-26
-
-
Compton, J.G.1
Digiovanna, J.J.2
Johnston, K.A.3
Fleckman, P.4
Bale, S.J.5
-
14
-
-
28244472290
-
Filaggrin repeat number polymorphism is associated with a dry skin phenotype
-
Ginger RS, Blachford S, Rowland J, Rowson M, Harding CR. Filaggrin repeat number polymorphism is associated with a dry skin phenotype. Arch. Dermatol. Res. 2005 297 : 235 41.
-
(2005)
Arch. Dermatol. Res.
, vol.297
, pp. 235-41
-
-
Ginger, R.S.1
Blachford, S.2
Rowland, J.3
Rowson, M.4
Harding, C.R.5
-
15
-
-
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, Tanaka K, Sugiura Y, Uehara M, Kikuchi K, Kimura T. 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 9.
-
(2005)
Br. J. Dermatol.
, vol.152
, pp. 146-9
-
-
Sugiura, H.1
Ebise, H.2
Tazawa, T.3
Tanaka, K.4
Sugiura, Y.5
Uehara, M.6
Kikuchi, K.7
Kimura, T.8
-
16
-
-
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, O'Regan GM, Clayton TH, Watson RM 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 4.
-
(2007)
Nat. Genet.
, vol.39
, pp. 650-4
-
-
Sandilands, A.1
Terron-Kwiatkowski, A.2
Hull, P.R.3
O'Regan, G.M.4
Clayton, T.H.5
Watson, R.M.6
-
17
-
-
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, Zhao Y, Terron-Kwiatkowski A, Watson RM 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 5.
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 1770-5
-
-
Sandilands, A.1
O'Regan, G.M.2
Liao, H.3
Zhao, Y.4
Terron-Kwiatkowski, A.5
Watson, R.M.6
-
18
-
-
33846820433
-
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
-
Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J. Allergy Clin. Immunol. 2007 119 : 434 40.
-
(2007)
J. Allergy Clin. Immunol.
, vol.119
, pp. 434-40
-
-
Nomura, T.1
Sandilands, A.2
Akiyama, M.3
Liao, H.4
Evans, A.T.5
Sakai, K.6
-
20
-
-
85119725676
-
-
J. Invest. Dermatol. 17 January (epub ahead of print).
-
Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J. Invest. Dermatol. 2008 17 January (epub ahead of print).
-
(2008)
Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan
-
-
Nomura, T.1
Akiyama, M.2
Sandilands, A.3
Nemoto-Hasebe, I.4
Sakai, K.5
Nagasaki, A.6
-
21
-
-
42149190704
-
-
J. Invest. Dermatol. in press.).
-
Hamada T, Sandilands A, Fukada S, Sakaguchi S, Ohyama B, Yasumoto S, Mclean WH, Hashimoto T. De novo occurrence of the filaggrin mutation, p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J. Invest. Dermatol. 2008 (in press).
-
(2008)
De Novo Occurrence of the Filaggrin Mutation, p.R501X with Prevalent Mutation c.3321dela in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis
-
-
Hamada, T.1
Sandilands, A.2
Fukada, S.3
Sakaguchi, S.4
Ohyama, B.5
Yasumoto, S.6
McLean, W.H.7
Hashimoto, T.8
-
22
-
-
44949200050
-
-
J. Invest. Dermatol. 31 January (epub ahead of print).
-
Chen H, Ho JC, Sandilands A, Chan YC, Giam YC, Evans AT, Lane EB, McLean WH. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J. Invest. Dermatol. 2008 31 January (epub ahead of print).
-
(2008)
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
-
-
Chen, H.1
Ho, J.C.2
Sandilands, A.3
Chan, Y.C.4
Giam, Y.C.5
Evans, A.T.6
Lane, E.B.7
McLean, W.H.8
-
23
-
-
33847029992
-
Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood
-
Barker JN, Palmer CN, Zhao Y, Liao H, Hull PR, Lee SP et al. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J. Invest. Dermatol. 2007 127 : 564 7.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 564-7
-
-
Barker, J.N.1
Palmer, C.N.2
Zhao, Y.3
Liao, H.4
Hull, P.R.5
Lee, S.P.6
-
25
-
-
39549101237
-
Large-scale identification of human genes implicated in epidermal barrier function
-
Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de Daruvar A, Wincker P, Serre G, Guerrin M. Large-scale identification of human genes implicated in epidermal barrier function. Genome Biol. 2007 8 : R107.
-
(2007)
Genome Biol.
, vol.8
-
-
Toulza, E.1
Mattiuzzo, N.R.2
Galliano, M.F.3
Jonca, N.4
Dossat, C.5
Jacob, D.6
De Daruvar, A.7
Wincker, P.8
Serre, G.9
Guerrin, M.10
-
26
-
-
34250828434
-
Cytokine modulation of atopic dermatitis filaggrin skin expression
-
Howell MD, Kim BE, Gao P, Grant AV, Boguniewicz M, Debenedetto A, Schneider L, Beck LA, Barnes KC, Leung DY. Cytokine modulation of atopic dermatitis filaggrin skin expression. J. Allergy Clin. Immunol. 2007 120 : 150 5.
-
(2007)
J. Allergy Clin. Immunol.
, vol.120
, pp. 150-5
-
-
Howell, M.D.1
Kim, B.E.2
Gao, P.3
Grant, A.V.4
Boguniewicz, M.5
Debenedetto, A.6
Schneider, L.7
Beck, L.A.8
Barnes, K.C.9
Leung, D.Y.10
-
27
-
-
34250797912
-
Filaggrin null mutations are associated with increased asthma severity in children and young adults
-
Palmer CN, Ismail T, Lee SP, Terron-Kwiatkowski A, Zhao Y, Liao H, Smith FJ, McLean WH, Mukhopadhyay S. Filaggrin null mutations are associated with increased asthma severity in children and young adults. J. Allergy Clin. Immunol. 2007 120 : 64 8.
-
(2007)
J. Allergy Clin. Immunol.
, vol.120
, pp. 64-8
-
-
Palmer, C.N.1
Ismail, T.2
Lee, S.P.3
Terron-Kwiatkowski, A.4
Zhao, Y.5
Liao, H.6
Smith, F.J.7
McLean, W.H.8
Mukhopadhyay, S.9
-
28
-
-
33749315429
-
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march
-
Marenholz I, Nickel R, Rüschendorf F, Schulz F, Esparza-Gordillo J, Kerscher T et al. Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. J. Allergy Clin. Immunol. 2006 118 : 866 71.
-
(2006)
J. Allergy Clin. Immunol.
, vol.118
, pp. 866-71
-
-
Marenholz, I.1
Nickel, R.2
Rüschendorf, F.3
Schulz, F.4
Esparza-Gordillo, J.5
Kerscher, T.6
-
29
-
-
33847052500
-
Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis
-
Weidinger S, Rodríguez E, Stahl C, Wagenpfeil S, Klopp N, Illig T, Novak N. Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. J. Invest. Dermatol. 2007 127 : 724 6.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 724-6
-
-
Weidinger, S.1
Rodríguez, E.2
Stahl, C.3
Wagenpfeil, S.4
Klopp, N.5
Illig, T.6
Novak, N.7
-
30
-
-
33745353511
-
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations
-
Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A et al. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J. Allergy Clin. Immunol. 2006 118 : 214 19.
-
(2006)
J. Allergy Clin. Immunol.
, vol.118
, pp. 214-19
-
-
Weidinger, S.1
Illig, T.2
Baurecht, H.3
Irvine, A.D.4
Rodriguez, E.5
Diaz-Lacava, A.6
-
31
-
-
33847025339
-
Fleshing out filaggrin phenotypes
-
Irvine AD. Fleshing out filaggrin phenotypes. J. Invest. Dermatol. 2007 127 : 504 7.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 504-7
-
-
Irvine, A.D.1
-
32
-
-
35348869766
-
Loss-of-function mutations in the filaggrin gene and alopecia areata: Strong risk factor for a severe course of disease in patients comorbid for atopic disease
-
Betz RC, Pforr J, Flaquer A, Redler S, Hanneken S, Eigelshoven S et al. Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease. J. Invest. Dermatol. 2007 127 : 2539 43.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 2539-43
-
-
Betz, R.C.1
Pforr, J.2
Flaquer, A.3
Redler, S.4
Hanneken, S.5
Eigelshoven, S.6
-
33
-
-
36248957531
-
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis
-
Liao H, Waters AJ, Goudie DR, Aitken DA, Graham G, Smith FJ, Lewis-Jones S, McLean WH. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J. Invest. Dermatol. 2007 127 : 2795 8.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 2795-8
-
-
Liao, H.1
Waters, A.J.2
Goudie, D.R.3
Aitken, D.A.4
Graham, G.5
Smith, F.J.6
Lewis-Jones, S.7
McLean, W.H.8
-
34
-
-
34447580008
-
Filaggrin null alleles are not associated with psoriasis
-
Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR et al. Filaggrin null alleles are not associated with psoriasis. J. Invest. Dermatol. 2007 127 : 1878 82.
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 1878-82
-
-
Zhao, Y.1
Terron-Kwiatkowski, A.2
Liao, H.3
Lee, S.P.4
Allen, M.H.5
Hull, P.R.6
-
35
-
-
17144399209
-
Autoantibodies to citrullinated proteins: APCA
-
Vincent C, Nogueira L, Clauel C, Sebbag M, Serre G. Autoantibodies to citrullinated proteins: APCA. Autoimmunity 2005 38 : 17 24.
-
(2005)
Autoimmunity
, vol.38
, pp. 17-24
-
-
Vincent, C.1
Nogueira, L.2
Clauel, C.3
Sebbag, M.4
Serre, G.5
-
36
-
-
37749032145
-
Loss-of-function mutations in the filaggrin gene: No contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis
-
Huffmeier U, Boiers U, Lascorz J, Reis A, Burkhardt H. Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis. Ann. Rheum. Dis. 2008 67 : 131 3.
-
(2008)
Ann. Rheum. Dis.
, vol.67
, pp. 131-3
-
-
Huffmeier, U.1
Boiers, U.2
Lascorz, J.3
Reis, A.4
Burkhardt, H.5
-
37
-
-
33745524911
-
Breaking the (un) sound barrier: Filaggrin is a major gene for atopic dermatitis
-
Irvine AD, McLean WH. Breaking the (un) sound barrier: filaggrin is a major gene for atopic dermatitis. J. Invest. Dermatol. 2006 126 : 1200 2.
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 1200-2
-
-
Irvine, A.D.1
McLean, W.H.2
-
38
-
-
34247609987
-
Chemical biology: Ignore the nonsense
-
Schmitz A, Famulok M. Chemical biology: ignore the nonsense. Nature 2007 447 : 42 3.
-
(2007)
Nature
, vol.447
, pp. 42-3
-
-
Schmitz, A.1
Famulok, M.2
-
39
-
-
33751064254
-
Drug evaluation: PTC-124 - A potential treatment of cystic fibrosis and Duchenne muscular dystrophy
-
Hamed SA. Drug evaluation: PTC-124 - a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. Idrugs 2006 9 : 783 9.
-
(2006)
Idrugs
, vol.9
, pp. 783-9
-
-
Hamed, S.A.1
-
40
-
-
34548150880
-
Simultaneous effect of ursolic acid and oleanolic acid on epidermal permeability barrier function and epidermal keratinocyte differentiation via peroxisome proliferators-activated receptor-alpha
-
Lin SW, Hong SP, Jeong SW, Kim B, Bak H, Ryoo JC, Lee SH, Ahn SK. Simultaneous effect of ursolic acid and oleanolic acid on epidermal permeability barrier function and epidermal keratinocyte differentiation via peroxisome proliferators-activated receptor-alpha. J. Dermatol. 2007 34 : 625 34.
-
(2007)
J. Dermatol.
, vol.34
, pp. 625-34
-
-
Lin, S.W.1
Hong, S.P.2
Jeong, S.W.3
Kim, B.4
Bak, H.5
Ryoo, J.C.6
Lee, S.H.7
Ahn, S.K.8
|