-
2
-
-
0003528977
-
-
Berlin: Springer-Verlag
-
Traupe H, Happle R, Melnik B. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin: Springer-Verlag, 1989.
-
(1989)
The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy
-
-
Traupe, H.1
Happle, R.2
Melnik, B.3
-
3
-
-
77955577355
-
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: Unraveling the peeling skin disease
-
Oji V, Eckl KM, Aufenvenne K et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87:274-81.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 274-281
-
-
Oji, V.1
Eckl, K.M.2
Aufenvenne, K.3
-
4
-
-
79951497066
-
Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin
-
Israeli S, Zamir H, Sarig O et al. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol 2011; 131:779-81.
-
(2011)
J Invest Dermatol
, vol.131
, pp. 779-781
-
-
Israeli, S.1
Zamir, H.2
Sarig, O.3
-
5
-
-
0035827559
-
Refined characterization of cor-neodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation
-
Simon M, Jonca N, Guerrin M et al. Refined characterization of cor-neodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001; 276:20292-9.
-
(2001)
J Biol Chem
, vol.276
, pp. 20292-20299
-
-
Simon, M.1
Jonca, N.2
Guerrin, M.3
-
6
-
-
0032575563
-
Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation
-
DOI 10.1074/jbc.273.35.22640
-
Guerrin M, Simon M, Montézin M et al. Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation. J Biol Chem 1998; 273:22640-7. (Pubitemid 28399834)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.35
, pp. 22640-22647
-
-
Guerrin, M.1
Simon, M.2
Montezin, M.3
Haftek, M.4
Vincent, C.5
Serre, G.6
-
7
-
-
0026052977
-
Identification of late differentiation antigens of human cornified epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope
-
Serre G, Mils V, Haftek M et al. Identification of late differentiation antigens of human cornified epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope. J Invest Dermatol 1991; 97:1061-72.
-
(1991)
J Invest Dermatol
, vol.97
, pp. 1061-1072
-
-
Serre, G.1
Mils, V.2
Haftek, M.3
-
8
-
-
0037085257
-
Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties
-
DOI 10.1074/jbc.M108438200
-
Jonca N, Guerrin M, Hadjiolova K et al. Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. J Biol Chem 2002; 277:5024-9. (Pubitemid 34968542)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.7
, pp. 5024-5029
-
-
Jonca, N.1
Guerrin, M.2
Hadjiolova, K.3
Caubet, C.4
Gallinaro, H.5
Simon, M.6
Serre, G.7
-
9
-
-
69549096268
-
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
-
Leclerc EA, Huchenq A, Mattiuzzo NR et al. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J Cell Sci 2009; 122:2699-709.
-
(2009)
J Cell Sci
, vol.122
, pp. 2699-2709
-
-
Leclerc, E.A.1
Huchenq, A.2
Mattiuzzo, N.R.3
-
10
-
-
0037941582
-
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
-
DOI 10.1038/ng1163
-
Levy-Nissenbaum E, Betz RC, Frydman M et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003; 34:151-3. (Pubitemid 36666924)
-
(2003)
Nature Genetics
, 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..
-
11
-
-
77956635278
-
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin
-
Caubet C, Bousset L, Clemmensen O et al. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 2010; 24:3416-26.
-
(2010)
FASEB J
, vol.24
, pp. 3416-3426
-
-
Caubet, C.1
Bousset, L.2
Clemmensen, O.3
|