| Mature IL-36gamma Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin. | Mature IL-36γ Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin.
Sato E, Imayoshi H, Tsutsui Y, Shimizu H, Imafuku S. | 03/27/2024 |
| Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease. | Identification of B-cell-related HSPG2 and CDSN as susceptibility loci for Kawasaki disease.
Kim JJ, Hong YM, Yun SW, Lee KY, Yoon KL, Han MK, Kim GB, Kil HR, Song MS, Lee HD, Ha KS, Jun HO, Yu JJ, Jang GY, Lee JK, Korean Kawasaki Disease Genetics Consortium. | 09/28/2023 |
| Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. | Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
Peled A, Samuelov L, Sarig O, Bochner R, Malki L, Pavlovsky M, Pichinuk E, Weil M, Sprecher E. | 06/19/2021 |
| Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. | Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
van der Velden JJAJ, van Geel M, Engelhart JJ, Jonkman MF, Steijlen PM., Free PMC Article | 09/26/2020 |
| results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. However, the age dependent associations need to be validated in larger sample sizes as well as in other populations. | HLA-C*06:02-independent, gender-related association of PSORS1C3 and PSORS1C1/CDSN single-nucleotide polymorphisms with risk and severity of psoriasis.
Wiśniewski A, Matusiak Ł, Szczerkowska-Dobosz A, Nowak I, Kuśnierczyk P., Free PMC Article | 07/14/2018 |
| We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P | Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
Leslie EJ, Carlson JC, Shaffer JR, Buxó CJ, Castilla EE, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E, Weinberg SM, Murray JC, Marazita ML., Free PMC Article | 12/2/2017 |
| Investigated potential direct protein-protein interactions between six late cornified envelope (LCE) proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin. | Analysis of protein-protein interaction between late cornified envelope proteins and corneodesmosin.
Bergboer JG, Dulak MG, van Vlijmen-Willems IM, Jonca N, van Wijk E, Hendriks WJ, Zeeuwen PL, Schalkwijk J. | 04/9/2016 |
| we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression | Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.
Wada T, Matsuda Y, Muraoka M, Toma T, Takehara K, Fujimoto M, Yachie A. | 05/30/2015 |
| Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease. | Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease.
Teye K, Hamada T, Krol RP, Numata S, Ishii N, Matsuda M, Ohata C, Furumura M, Hashimoto T. | 01/24/2015 |
| PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis | PSORS1C1/CDSN is associated with ankylosing spondylitis.
Sun H, Xu B, Meng Q, Yang Q, Chang X. | 10/25/2014 |
| A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family. | [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].
Huang XS, Jiang HO, Quan QL. | 10/20/2012 |
| CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis. | Association of -619C/T polymorphism in CDSN gene and psoriasis risk: a meta-analysis.
Wu Y, Wang B, Liu JL, Gao XH, Chen HD, Li YH. | 09/8/2012 |
| CDSN plays a vital role in the structural and functional integrity of the epidermis and the hair follicle integrity by preventing the rupture of corneodesmosome. | Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
Jonca N, Leclerc EA, Caubet C, Simon M, Guerrin M, Serre G. | 09/3/2011 |
| identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification | mRNA-based skin identification for forensic applications.
Visser M, Zubakov D, Ballantyne KN, Kayser M., Free PMC Article | 07/2/2011 |
| Study of consangunity in a large family points to a homozygous nonesense mutation of the gene coding for corneodesmosin. | [Peeling skin disease: the responsibility of corneodesmosin].
Dereure O. | 04/30/2011 |
| The distribution of corneodesmosin on the surface of the stratum corneum was mapped at the nanoscale using atomic force microscopy. | Detection of corneodesmosin on the surface of stratum corneum using atomic force microscopy.
Rankl C, Zhu R, Luengo GS, Donovan M, Baghdadli N, Hinterdorfer P. | 04/30/2011 |
| Data identifies hypotrichosis simplex of the scalp as a human amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils. | A new amyloidosis caused by fibrillar 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. | 09/27/2010 |
| Lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases. | Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
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., Free PMC Article | 09/6/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population.
Fan X, Yang S, Huang W, Wang ZM, Sun LD, Liang YH, Gao M, Ren YQ, Zhang KY, Du WH, Shen YJ, Liu JJ, Zhang XJ., Free PMC Article | 04/16/2008 |
| Observational study of genotype prevalence, gene-disease association, and gene-gene interaction. (HuGE Navigator) | Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).
Orrù 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. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (8) articlesHigh-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA. Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes.
Chang YT, Chou CT, Shiao YM, Lin MW, Yu CW, Chen CC, Huang CH, Lee DD, Liu HN, Wang WJ, Tsai SF. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.
Nair RP, Stuart PE, Nistor I, Hiremagalore R, Chia NVC, Jenisch S, Weichenthal M, Abecasis GR, Lim HW, Christophers E, Voorhees JJ, Elder JT. The region of 150 kb telometic to HLA-C is associated with psoriasis in the Jewish population.
Martínez-Borra J, Brautbar C, González S, Enk CD, López-Vázquez A, López-Larrea C. 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. The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.
Allen MH, Ameen H, Veal C, Evans J, Ramrakha-Jones VS, Marsland AM, Burden AD, Griffiths CE, Trembath RC, Barker JN. A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis.
Chang YT, Tsai SF, Lee DD, Shiao YM, Huang CY, Liu HN, Wang WJ, Wong CK. Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.
Hui J, Oka A, Tamiya G, Tomizawa M, Kulski JK, Penhale WJ, Tay GK, Iizuka M, Ozawa A, Inoko H. | 03/13/2008 |
| identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp | 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, Nöthen MM, Pras E. | 01/21/2010 |
| non-glycosylated CDSN is able to spontaneously form large homo-oligomers in vitro and that the N-terminal glycine loop domain is necessary for the formation of these macromolecular complexes. | Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain.
Caubet C, Jonca N, Lopez F, Estève JP, Simon M, Serre G. | 01/21/2010 |
| phenotype of Netherton syndrome is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin | Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice.
Yang T, Liang D, Koch PJ, Hohl D, Kheradmand F, Overbeek PA., Free PMC Article | 01/21/2010 |
| Association analyses show that haplotypes bearing CDSN*971T maps to a RNA stability motif and confers psoriasis susceptibility in a wide range of ethnic groups. | A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.
Capon F, Allen MH, Ameen M, Burden AD, Tillman D, Barker JN, Trembath RC. | 01/21/2010 |