1 | CDSN, HTSS1
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| A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
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| Caubet C, Bousset L, Clemmensen O, Sourigues Y, Bygum A, Chavanas S, Coudane F, Hsu CY, Betz RC, Melki R, Simon M, Serre G.
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| FASEB J ASEB J. 2010 May 6. [Epub ahead of print]PMID: 20448140 2010
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2 | CDSN, PSS
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| Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
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| Oji V, Eckl KM, Aufenvenne K, Nätebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nürnberg G, Fölster-Holst R, Schäfer-Korting M, Hausser I, Traupe H, Hennies HC.
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| Am J Hum Genet 87(2):274-81.PMID: 20691404 [ 2010
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3 | CDSN
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| Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction.
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| Leclerc EA, Huchenq A, Mattiuzzo NR, Metzger D, Chambon P, Ghyselinck NB, Serre G, Jonca N, Guerrin M.
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| J Cell Sci 122(Pt 15):2699-709. Epub 2009 Jul 13.PMID: 19596793 2009
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4 | CDSN
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| Alterations in the desquamation-related proteolytic cleavage of corneodesmosin and other corneodesmosomal proteins in psoriatic lesional epidermis.
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| Simon M, Tazi-Ahnini R, Jonca N, Caubet C, Cork MJ, Serre G.
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| Br J Dermatol 159(1):77-85. Epub 2008 Jul 1.PMID: 18460028 2008
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5 | CDSN
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| Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology.
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| 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.
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| Proc Natl Acad Sci U S A 105(18):6720-4. Epub 2008 Apr 24.PMID: 18436651 2008
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6 | CDSN, PSORS1
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| Mapping of the Major Psoriasis-Susceptibility Locus (PSORS1) in a 70-Kb Interval around the Corneodesmosin Gene (CDSN).
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| Orru S, Giuressi E, Carcassi C, Casula M, Contu L.
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| Am J Hum Genet 76(1):164-71. Epub 2005 Jan. 2005
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7 | CDSN, PSORS1
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| A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.
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| Capon F, Allen MH, Ameen M, Burden AD, Tillman D, Barker JN, Trembath RC.
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| Hum Mol Genet 13(20):2361-8. Epub 2004 Aug 27. 2004
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8 | CDSN, HTSS1
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| Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
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| 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.
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| Nat Genet 34(2):151-3. 2003
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9 | CDSN
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| Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).
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| Orru S, Giuressi E, Casula M, Loizedda A, Murru R, Mulargia M, Masala MV, Cerimele D, Zucca M, Aste N, Biggio P, Carcassi C, Contu L.
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| Tissue Antigens 60(4):292-8. 2002
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10 | CDSN
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| Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties.
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| Jonca N, Guerrin M, Hadjiolova K, Caubet C, Gallinaro H, Simon M, Serre G.
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| J Biol Chem 277(7):5024-9. 2002
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11 | CDSN
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| Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis.
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| Tazi Ahnini R, et al.
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| Hum Mol Genet 8(6):1135-40. 1999
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12 | CDSN, PSORS1
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| Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris.
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| Jenisch S, Koch S, Henseler T, Nair RP, Elder JT, Watts CE, Westphal E, Voorhees JJ, Christophers E, Kronke M.
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| Tissue Antigens 54(5):439-49 1999
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13 | CDSN
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| 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.
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| Guerrin M, et al.
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| J Biol Chem 273 : 22640-22647. 1998
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14 | CDSN
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| Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes.
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| Simon M, et al.
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| J Biol Chem 272 : 31770-31776. 1997
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15 | POU5F1, TCF19, CDSN
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| Feature mapping of the HLA class I region : localization of the POU5F1 and TCF19 genes.
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| Krishnan BR, et al.
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| Genomics 30 : 53-58. 1995
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16 | CDSN
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| Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation.
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| Zhou Y, et al.
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| Proc Natl Acad Sci U S A 90 : 9470-9474. 1993
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