-
1
-
-
20644446067
-
Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations
-
Ameen M, Allen MH, Fisher SA, Lewis CM, Cuthbert A, Kondeatis E, Vaughan RW, Murakami H, Nakagawa H, Barker JN (2005) Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations. Clin Exp Dermatol 30(4):414-418
-
(2005)
Clin Exp Dermatol
, vol.30
, Issue.4
, pp. 414-418
-
-
Ameen, M.1
Allen, M.H.2
Fisher, S.A.3
Lewis, C.M.4
Cuthbert, A.5
Kondeatis, E.6
Vaughan, R.W.7
Murakami, H.8
Nakagawa, H.9
Barker, J.N.10
-
2
-
-
79951482804
-
Peeling skin syndrome: Genetic defects in late terminal diVerentiation of the epidermis
-
Bowden PE (2011) Peeling skin syndrome: genetic defects in late terminal diVerentiation of the epidermis. J Investig Dermatol 131(3):561-564
-
(2011)
J Investig Dermatol
, vol.131
, Issue.3
, pp. 561-564
-
-
Bowden, P.E.1
-
3
-
-
28144445201
-
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
-
Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH (2005) A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 77(6):909-917
-
(2005)
Am J Hum Genet
, vol.77
, Issue.6
, pp. 909-917
-
-
Cassidy, A.J.1
Van Steensel, M.A.2
Steijlen, P.M.3
Van Geel, M.4
Van Der Velden, J.5
Morley, S.M.6
Terrinoni, A.7
Melino, G.8
Candi, E.9
McLean, W.H.10
-
4
-
-
77956635278
-
A new amyloidosis caused by Wbrillar aggregates of mutated corneodesmosin
-
Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G (2010) A new amyloidosis caused by Wbrillar aggregates of mutated corneodesmosin. FASEB J 24(9):3416-3426
-
(2010)
FASEB J
, vol.24
, Issue.9
, pp. 3416-3426
-
-
Caubet, C.1
Bousset, L.2
Clemmensen, O.3
Sourigues, Y.4
Bygum, A.5
Chavanas, S.6
Coudane, F.7
Hsu, C.Y.8
Betz, R.C.9
Melki, R.10
Simon, M.11
Serre, G.12
-
5
-
-
2442428082
-
Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7
-
Caubet C, Jonca N, Brattsand M, Guerrin M, Bernard D, Schmidt R, Egelrud T, Simon M, Serre G (2004) Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Investig Dermatol 122(5):1235-1244
-
(2004)
J Investig Dermatol
, vol.122
, Issue.5
, pp. 1235-1244
-
-
Caubet, C.1
Jonca, N.2
Brattsand, M.3
Guerrin, M.4
Bernard, D.5
Schmidt, R.6
Egelrud, T.7
Simon, M.8
Serre, G.9
-
6
-
-
28844454237
-
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp
-
Davalos NO, Garcia-Vargas A, Pforr J, Davalos IP, Picos-Cardenas VJ, Garcia-Cruz D, Kruse R, Figuera LE, Nothen MM, Betz RC (2005) A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br J Dermatol 153(6):1216-1219
-
(2005)
Br J Dermatol
, vol.153
, Issue.6
, pp. 1216-1219
-
-
Davalos, N.O.1
Garcia-Vargas, A.2
Pforr, J.3
Davalos, I.P.4
Picos-Cardenas, V.J.5
Garcia-Cruz, D.6
Kruse, R.7
Figuera, L.E.8
Nothen, M.M.9
Betz, R.C.10
-
7
-
-
22144440516
-
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5
-
Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G (2005) Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5. Dermatology (Basel, Switzerland) 210(4):308-314
-
(2005)
Dermatology (Basel, Switzerland)
, vol.210
, Issue.4
, pp. 308-314
-
-
Geyer, A.S.1
Ratajczak, P.2
Pol-Rodriguez, M.3
Millar, W.S.4
Garzon, M.5
Richard, G.6
-
8
-
-
4544301463
-
Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation
-
Igarashi S, Takizawa T, Takizawa T, Yasuda Y, Uchiwa H, Hayashi S, Brysk H, Robinson JM, Yamamoto K, Brysk MM, Horikoshi T (2004) Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation. Br J Dermatol 151(2):355-361
-
(2004)
Br J Dermatol
, vol.151
, Issue.2
, pp. 355-361
-
-
Igarashi, S.1
Takizawa, T.2
Takizawa, T.3
Yasuda, Y.4
Uchiwa, H.5
Hayashi, S.6
Brysk, H.7
Robinson, J.M.8
Yamamoto, K.9
Brysk, M.M.10
Horikoshi, T.11
-
9
-
-
79951497066
-
InXammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin
-
Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E (2011) InXammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Investig Dermatol 131(3):779-781
-
(2011)
J Investig Dermatol
, vol.131
, Issue.3
, pp. 779-781
-
-
Israeli, S.1
Zamir, H.2
Sarig, O.3
Bergman, R.4
Sprecher, E.5
-
10
-
-
70349140571
-
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family
-
KharW M, El Fekih N, Ammar D, Jaafoura H, Schwonbeck S, van Steensel MA, Fazaa B, Kamoun MR, Fischer J (2009) A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. J Investig Dermatol 129(10):2512-2515
-
(2009)
J Investig Dermatol
, vol.129
, Issue.10
, pp. 2512-2515
-
-
Kharw, M.1
El Fekih, N.2
Ammar, D.3
Jaafoura, H.4
Schwonbeck, S.5
Van Steensel, M.A.6
Fazaa, B.7
Kamoun, M.R.8
Fischer, J.9
-
11
-
-
69549096268
-
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hairfollicle degeneration related to desmosome dysfunction
-
Leclerc EA, Huchenq A, Mattiuzzo NR, Metzger D, Chambon P, Ghyselinck NB, Serre G, Jonca N, Guerrin M (2009) Corneodesmosin gene ablation induces lethal skin-barrier disruption and hairfollicle degeneration related to desmosome dysfunction. J Cell Sci 122(Pt 15):2699-2709
-
(2009)
J Cell Sci
, vol.122
, Issue.PART 15
, pp. 2699-2709
-
-
Leclerc, E.A.1
Huchenq, A.2
Mattiuzzo, N.R.3
Metzger, D.4
Chambon, P.5
Ghyselinck, N.B.6
Serre, G.7
Jonca, N.8
Guerrin, M.9
-
12
-
-
0037941582
-
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
-
Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nothen MM, Pras E (2003) Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 34(2):151-153
-
(2003)
Nat Genet
, vol.34
, Issue.2
, pp. 151-153
-
-
Levy-Nissenbaum, E.1
Betz, R.C.2
Frydman, M.3
Simon, M.4
Lahat, H.5
Bakhan, T.6
Goldman, B.7
Bygum, A.8
Pierick, M.9
Hillmer, A.M.10
Jonca, N.11
Toribio, J.12
Kruse, R.13
Dewald, G.14
Cichon, S.15
Kubisch, C.16
Guerrin, M.17
Serre, G.18
Nothen, M.M.19
Pras, E.20
more..
-
13
-
-
44349112225
-
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology
-
Matsumoto M, Zhou Y, Matsuo S, Nakanishi H, Hirose K, Oura H, Arase S, Ishida-Yamamoto A, Bando Y, Izumi K, Kiyonari H, Oshima N, Nakayama R, Matsushima A, Hirota F, Mouri Y, Kuroda N, Sano S, Chaplin DD (2008) Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. Proc Natl Acad Sci USA 105(18):6720-6724
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, Issue.18
, pp. 6720-6724
-
-
Matsumoto, M.1
Zhou, Y.2
Matsuo, S.3
Nakanishi, H.4
Hirose, K.5
Oura, H.6
Arase, S.7
Ishida-Yamamoto, A.8
Bando, Y.9
Izumi, K.10
Kiyonari, H.11
Oshima, N.12
Nakayama, R.13
Matsushima, A.14
Hirota, F.15
Mouri, Y.16
Kuroda, N.17
Sano, S.18
Chaplin, D.D.19
-
14
-
-
77955577355
-
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: Unraveling the peeling skin disease
-
Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R, Schafer-Korting M, Hausser I, Traupe H, Hennies HC (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 87(2):274-281
-
(2010)
Am J Hum Genet
, vol.87
, Issue.2
, pp. 274-281
-
-
Oji, V.1
Eckl, K.M.2
Aufenvenne, K.3
Natebus, M.4
Tarinski, T.5
Ackermann, K.6
Seller, N.7
Metze, D.8
Nurnberg, G.9
Folster-Holst, R.10
Schafer-Korting, M.11
Hausser, I.12
Traupe, H.13
Hennies, H.C.14
-
15
-
-
77952700774
-
Revised nomenclature, classiWcation of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
-
Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taieb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H (2010) Revised nomenclature, classiWcation of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 63(4):607-641
-
(2010)
J Am Acad Dermatol
, vol.63
, Issue.4
, pp. 607-641
-
-
Oji, V.1
Tadini, G.2
Akiyama, M.3
Blanchet Bardon, C.4
Bodemer, C.5
Bourrat, E.6
Coudiere, P.7
Digiovanna, J.J.8
Elias, P.9
Fischer, J.10
Fleckman, P.11
Gina, M.12
Harper, J.13
Hashimoto, T.14
Hausser, I.15
Hennies, H.C.16
Hohl, D.17
Hovnanian, A.18
Ishida-Yamamoto, A.19
Jacyk, W.K.20
Leachman, S.21
Leigh, I.22
Mazereeuw-Hautier, J.23
Milstone, L.24
Morice-Picard, F.25
Paller, A.S.26
Richard, G.27
Schmuth, M.28
Shimizu, H.29
Sprecher, E.30
Van Steensel, M.31
Taieb, A.32
Toro, J.R.33
Vabres, P.34
Vahlquist, A.35
Williams, M.36
Traupe, H.37
more..
-
16
-
-
50949107229
-
Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma
-
Raz AE, Vizner Y (2008) Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma. Soc Sci Med (1982) 67(9):1361-1369
-
(2008)
Soc Sci Med (1982)
, vol.67
, Issue.9
, pp. 1361-1369
-
-
Raz, A.E.1
Vizner, Y.2
-
17
-
-
0033953635
-
An economic method for the Xuorescent labeling of PCR fragments
-
Schuelke M (2000) An economic method for the Xuorescent labeling of PCR fragments. Nat Biotechnol 18(2):233-234
-
(2000)
Nat Biotechnol
, vol.18
, Issue.2
, pp. 233-234
-
-
Schuelke, M.1
-
18
-
-
0026052977
-
IdentiWcation of late diVerentiation antigens of human corniWed epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope
-
Serre G, Mils V, Haftek M, Vincent C, Croute F, Reano A, Ouhayoun JP, Bettinger S, Soleilhavoup JP (1991) IdentiWcation of late diVerentiation antigens of human corniWed epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope. J Investig Dermatol 97(6):1061-1072
-
(1991)
J Investig Dermatol
, vol.97
, Issue.6
, pp. 1061-1072
-
-
Serre, G.1
Mils, V.2
Haftek, M.3
Vincent, C.4
Croute, F.5
Reano, A.6
Ouhayoun, J.P.7
Bettinger, S.8
Soleilhavoup, J.P.9
-
19
-
-
0035723116
-
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and Wrst case of prenatal diagnosis
-
Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G (2001) The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and Wrst case of prenatal diagnosis. J Investig Dermatol 117(2):179-187
-
(2001)
J Investig Dermatol
, vol.117
, Issue.2
, pp. 179-187
-
-
Sprecher, E.1
Chavanas, S.2
Digiovanna, J.J.3
Amin, S.4
Nielsen, K.5
Prendiville, J.S.6
Silverman, R.7
Esterly, N.B.8
Spraker, M.K.9
Guelig, E.10
De Luna, M.L.11
Williams, M.L.12
Buehler, B.13
Siegfried, E.C.14
Van Maldergem, L.15
Pfendner, E.16
Bale, S.J.17
Uitto, J.18
Hovnanian, A.19
Richard, G.20
more..
-
20
-
-
0344142484
-
Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis
-
Tazi Ahnini R, Camp NJ, Cork MJ, Mee JB, Keohane SG, DuV GW, di Giovine FS (1999) Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis. Hum Mol Genet 8(6):1135-1140
-
(1999)
Hum Mol Genet
, vol.8
, Issue.6
, pp. 1135-1140
-
-
Tazi Ahnini, R.1
Camp, N.J.2
Cork, M.J.3
Mee, J.B.4
Keohane, S.G.5
Duv, G.W.6
Di Giovine, F.S.7
-
21
-
-
33748928794
-
InXammatory peeling skin syndrome studied with electron microscopy
-
Tsai K, Valente NY, Nico MM (2006) InXammatory peeling skin syndrome studied with electron microscopy. Pediatr Dermatol 23(5):488-492
-
(2006)
Pediatr Dermatol
, vol.23
, Issue.5
, pp. 488-492
-
-
Tsai, K.1
Valente, N.Y.2
Nico, M.M.3
|