-
1
-
-
33749854840
-
A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
-
Akiyama M, Sakai K, Wolff G, Hausser I, McMillan JR, Sawamura D et al. (2006) A novel ABCA12 mutation 3270delT causes harlequin ichthyosis. Br J Dermatol 155:1064-6
-
(2006)
Br J Dermatol
, vol.155
, pp. 1064-1066
-
-
Akiyama, M.1
Sakai, K.2
Wolff, G.3
Hausser, I.4
McMillan, J.R.5
Sawamura, D.6
-
2
-
-
0023814557
-
New techniques for the grafting of cultured human epidermal cells onto athymic animals
-
Barrandon Y, Li V, Green H (1988) New techniques for the grafting of cultured human epidermal cells onto athymic animals. J Invest Dermatol 91:315-8
-
(1988)
J Invest Dermatol
, vol.91
, pp. 315-318
-
-
Barrandon, Y.1
Li, V.2
Green, H.3
-
3
-
-
0033588022
-
Lipoxygenases: Occurrence, functions, catalysis, and acquisition of substrate
-
Brash AR (1999) Lipoxygenases: occurrence, functions, catalysis, and acquisition of substrate. J Biol Chem 274:23679-82
-
(1999)
J Biol Chem
, vol.274
, pp. 23679-23682
-
-
Brash, A.R.1
-
5
-
-
26944457753
-
Wound healing and inflammation genes revealed by array analysis of 'macrophageless' PU.1 null mice
-
Cooper L, Johnson C, Burslem F, Martin P (2005) Wound healing and inflammation genes revealed by array analysis of 'macrophageless' PU.1 null mice. Genome Biol 6:R5
-
(2005)
Genome Biol
, vol.6
-
-
Cooper, L.1
Johnson, C.2
Burslem, F.3
Martin, P.4
-
6
-
-
35348850047
-
Congenital ichthyosis: Mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
-
Dahlqvist J, Klar J, Hausser I, nton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr et al. (2007) Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet 44:615-20
-
(2007)
J Med Genet
, vol.44
, pp. 615-620
-
-
Dahlqvist, J.1
Klar, J.2
Hausser, I.3
nton-Lamprecht, I.4
Pigg, M.H.5
Gedde-Dahl Jr, T.6
-
7
-
-
19944427605
-
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactiv-ity
-
Descargues P, Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A et al. (2005) Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactiv-ity. Nat Genet 37:56-65
-
(2005)
Nat Genet
, vol.37
, pp. 56-65
-
-
Descargues, P.1
Deraison, C.2
Bonnart, C.3
Kreft, M.4
Kishibe, M.5
Ishida-Yamamoto, A.6
-
8
-
-
25444467735
-
Mutation spectrum and functional analysis of epidermis-type lipoxy-genases in patients with autosomal recessive congenital ichthyosis
-
Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N et al. (2005) Mutation spectrum and functional analysis of epidermis-type lipoxy-genases in patients with autosomal recessive congenital ichthyosis. Hum Mutat 26:351-61
-
(2005)
Hum Mutat
, vol.26
, pp. 351-361
-
-
Eckl, K.M.1
Krieg, P.2
Kuster, W.3
Traupe, H.4
Andre, F.5
Wittstruck, N.6
-
9
-
-
34247176651
-
12R-lipoxygenase deficiency disrupts epidermal barrier function
-
Epp N, Furstenberger G, Muller K, de JS, Leitges M, Hausser I et al. (2007) 12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol 177:173-82
-
(2007)
J Cell Biol
, vol.177
, pp. 173-182
-
-
Epp, N.1
Furstenberger, G.2
Muller, K.3
de, J.S.4
Leitges, M.5
Hausser, I.6
-
10
-
-
0037128938
-
Claudin-based tight junctions are crucial for the mammalian epidermal barrier: A lesson from claudin-1-deficient mice
-
Furuse M, Hata M, Furuse K, Yoshida Y, Haratake A, Sugitani Y et al. (2002) Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice. J Cell Biol 156:1099-111
-
(2002)
J Cell Biol
, vol.156
, pp. 1099-1111
-
-
Furuse, M.1
Hata, M.2
Furuse, K.3
Yoshida, Y.4
Haratake, A.5
Sugitani, Y.6
-
11
-
-
41149096095
-
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene
-
Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G et al. (2008) Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol 144:351-6
-
(2008)
Arch Dermatol
, vol.144
, pp. 351-356
-
-
Harting, M.1
Brunetti-Pierri, N.2
Chan, C.S.3
Kirby, J.4
Dishop, M.K.5
Richard, G.6
-
12
-
-
18244388249
-
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
-
Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J et al. (2002) Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-13
-
(2002)
Hum Mol Genet
, vol.11
, pp. 107-113
-
-
Jobard, F.1
Lefevre, C.2
Karaduman, A.3
Blanchet-Bardon, C.4
Emre, S.5
Weissenbach, J.6
-
13
-
-
0033153412
-
cDNA cloning, genomic structure and chromosomal localization of a novel murine epidermis-type lipoxygenase
-
Kinzig A, Heidt M, Fürstenberger G, Marks F, Krieg P (1999) cDNA cloning, genomic structure and chromosomal localization of a novel murine epidermis-type lipoxygenase. Genomics 58:158-64
-
(1999)
Genomics
, vol.58
, pp. 158-164
-
-
Kinzig, A.1
Heidt, M.2
Fürstenberger, G.3
Marks, F.4
Krieg, P.5
-
14
-
-
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, Bundman D, Longley MA, Bickenbach J et al. (2000) Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol 151:389-400
-
(2000)
J Cell Biol
, vol.151
, pp. 389-400
-
-
Koch, P.J.1
de Viragh, P.A.2
Scharer, E.3
Bundman, D.4
Longley, M.A.5
Bickenbach, J.6
-
15
-
-
0037769718
-
Epidermis-type lipoxygenases
-
Krieg P, Heidt M, Siebert M, Kinzig A, Marks F, Furstenberger G (2002) Epidermis-type lipoxygenases. Adv Exp Med Biol 507:165-70
-
(2002)
Adv Exp Med Biol
, vol.507
, pp. 165-170
-
-
Krieg, P.1
Heidt, M.2
Siebert, M.3
Kinzig, A.4
Marks, F.5
Furstenberger, G.6
-
16
-
-
0031213640
-
Repetin (Rptn), a new member of the ''fused gene'' subgroup within the S100 gene family encoding a murine epidermal diffrerentiation protein
-
Krieg P, Schuppler M, Koesters R, Mincheva A, Lichter P, Marks F (1997) Repetin (Rptn), a new member of the ''fused gene'' subgroup within the S100 gene family encoding a murine epidermal diffrerentiation protein. Genomics 43:339-48
-
(1997)
Genomics
, vol.43
, pp. 339-348
-
-
Krieg, P.1
Schuppler, M.2
Koesters, R.3
Mincheva, A.4
Lichter, P.5
Marks, F.6
-
17
-
-
0033057031
-
Murine 12(R)-lipoxygenase: Functional expression, genomic structure and chromosomal localization
-
Krieg P, Siebert M, Kinzig A, Bettenhausen R, Marks F, Fürstenberger G (1999) Murine 12(R)-lipoxygenase: functional expression, genomic structure and chromosomal localization. FEBS Lett 446:142-8
-
(1999)
FEBS Lett
, vol.446
, pp. 142-148
-
-
Krieg, P.1
Siebert, M.2
Kinzig, A.3
Bettenhausen, R.4
Marks, F.5
Fürstenberger, G.6
-
18
-
-
0036157925
-
Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1
-
Kuramoto N, Takizawa T, Takizawa T, Matsuki M, Morioka H, Robinson JM et al. (2002) Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J Clin Invest 109:243-50
-
(2002)
J Clin Invest
, vol.109
, pp. 243-250
-
-
Kuramoto, N.1
Takizawa, T.2
Takizawa, T.3
Matsuki, M.4
Morioka, H.5
Robinson, J.M.6
-
19
-
-
33144486941
-
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
-
Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M et al. (2006) Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 15:767-76
-
(2006)
Hum Mol Genet
, vol.15
, pp. 767-776
-
-
Lefevre, C.1
Bouadjar, B.2
Ferrand, V.3
Tadini, G.4
Megarbane, A.5
Lathrop, M.6
-
20
-
-
33947260711
-
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13
-
Lesueur F, Bouadjar B, Lefevre C, Jobard F, Audebert S, Lakhdar H et al. (2007) Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol 127:829-34
-
(2007)
J Invest Dermatol
, vol.127
, pp. 829-834
-
-
Lesueur, F.1
Bouadjar, B.2
Lefevre, C.3
Jobard, F.4
Audebert, S.5
Lakhdar, H.6
-
21
-
-
23744513344
-
The epidermal barrier function is dependent on the serine protease CAP1/Prss8
-
Leyvraz C, Charles RP, Rubera I, Guitard M, Rotman S, Breiden B et al. (2005) The epidermal barrier function is dependent on the serine protease CAP1/Prss8. J Cell Biol 170:487-96
-
(2005)
J Cell Biol
, vol.170
, pp. 487-496
-
-
Leyvraz, C.1
Charles, R.P.2
Rubera, I.3
Guitard, M.4
Rotman, S.5
Breiden, B.6
-
22
-
-
0037161955
-
Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis
-
List K, Haudenschild CC, Szabo R, Chen W, Wahl SM, Swaim W et al. (2002) Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis. Oncogene 21:3765-79
-
(2002)
Oncogene
, vol.21
, pp. 3765-3779
-
-
List, K.1
Haudenschild, C.C.2
Szabo, R.3
Chen, W.4
Wahl, S.M.5
Swaim, W.6
-
23
-
-
33749073422
-
A founder mutation for ichthyosis prematurity syndrome restricted to 76kb by haplotype association
-
Melin M, Klar J Jr, Gedde-Dahl T, Fredriksson R, Hausser I, Brandrup F et al. (2006) A founder mutation for ichthyosis prematurity syndrome restricted to 76kb by haplotype association. J Hum Genet 51:864-71
-
(2006)
J Hum Genet
, vol.51
, pp. 864-871
-
-
Melin, M.1
Klar Jr, J.2
Gedde-Dahl, T.3
Fredriksson, R.4
Hausser, I.5
Brandrup, F.6
-
24
-
-
34447334680
-
A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier
-
Moran JL, Qiu H, Turbe-Doan A, Yun Y, Boeglin WE, Brash AR et al. (2007) A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier. J Invest Dermatol 127:1893-7
-
(2007)
J Invest Dermatol
, vol.127
, pp. 1893-1897
-
-
Moran, J.L.1
Qiu, H.2
Turbe-Doan, A.3
Yun, Y.4
Boeglin, W.E.5
Brash, A.R.6
-
25
-
-
33748333074
-
Ichthyoses: Differential diagnosis and molecular genetics
-
Oji V, Traupe H (2006) Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 16:349-59
-
(2006)
Eur J Dermatol
, vol.16
, pp. 349-359
-
-
Oji, V.1
Traupe, H.2
-
26
-
-
0037326928
-
Mouse Sprr locus: A tandem array of coordinately regulated genes
-
Patel S, Kartasova T, Segre JA (2003) Mouse Sprr locus: a tandem array of coordinately regulated genes. Mamm Genome 14:140-8
-
(2003)
Mamm Genome
, vol.14
, pp. 140-148
-
-
Patel, S.1
Kartasova, T.2
Segre, J.A.3
-
27
-
-
0032420576
-
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
-
Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N (1998) Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet 6:589-96
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 589-596
-
-
Pigg, M.1
Gedde-Dahl Jr, T.2
Cox, D.3
Hausser, I.4
Anton-Lamprecht, I.5
Dahl, N.6
-
28
-
-
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 (2000) 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 115:1072-81
-
(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
-
29
-
-
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. (2006) Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 126:1770-5
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1770-1775
-
-
Sandilands, A.1
O'Regan, G.M.2
Liao, H.3
Zhao, Y.4
Terron-Kwiatkowski, A.5
Watson, R.M.6
-
30
-
-
0345708054
-
Complex redundancy to build a simple epidermal permeability barrier
-
Segre J (2003) Complex redundancy to build a simple epidermal permeability barrier. Curr Opin Cell Biol 15:776-82
-
(2003)
Curr Opin Cell Biol
, vol.15
, pp. 776-782
-
-
Segre, J.1
-
31
-
-
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. (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38:337-42
-
(2006)
Nat Genet
, vol.38
, pp. 337-342
-
-
Smith, F.J.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
Sandilands, A.4
Campbell, L.E.5
Zhao, Y.6
-
32
-
-
1642523683
-
Lipopenia and skin barrier abnormalities in DGAT2-deficient mice
-
Stone SJ, Myers HM, Watkins SM, Brown BE, Feingold KR, Elias PM et al. (2004) Lipopenia and skin barrier abnormalities in DGAT2-deficient mice. J Biol Chem 279:11767-76
-
(2004)
J Biol Chem
, vol.279
, pp. 11767-11776
-
-
Stone, S.J.1
Myers, H.M.2
Watkins, S.M.3
Brown, B.E.4
Feingold, K.R.5
Elias, P.M.6
-
34
-
-
11144351038
-
Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipox-ygenases 12R-LOX and eLOX3
-
Yu Z, Schneider C, Boeglin WE, Brash AR (2005) Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipox-ygenases 12R-LOX and eLOX3. Biochim Biophys Acta 1686 3:238-47
-
(2005)
Biochim Biophys Acta
, vol.1686
, Issue.3
, pp. 238-247
-
-
Yu, Z.1
Schneider, C.2
Boeglin, W.E.3
Brash, A.R.4
-
35
-
-
0041923845
-
The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase
-
Yu Z, Schneider C, Boeglin WE, Marnett LJ, Brash AR (2003) The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. Proc Natl Acad Sci USA 100: 9162-7
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 9162-9167
-
-
Yu, Z.1
Schneider, C.2
Boeglin, W.E.3
Marnett, L.J.4
Brash, A.R.5
|