CDSN Antibody

1. 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. PMID: 29589160
2. 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 PMID: 28425186
3. 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. PMID: 25078048
4. 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 PMID: 24116970
5. Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease. PMID: 24794518
6. PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis PMID: 24210685
7. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family. PMID: 22875505
8. CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis. PMID: 22033905
9. 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. PMID: 21628128
10. 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 PMID: 21221983
11. Study of consangunity in a large family points to a homozygous nonesense mutation of the gene coding for corneodesmosin. PMID: 21134591
12. The distribution of corneodesmosin on the surface of the stratum corneum was mapped at the nanoscale using atomic force microscopy. PMID: 21182673
13. Data identifies hypotrichosis simplex of the scalp as a human amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils. PMID: 20448140
14. Lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases. PMID: 20691404
15. identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp PMID: 12754508
16. 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. PMID: 15086562
17. 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. PMID: 15333584
18. phenotype of Netherton syndrome is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin PMID: 15466487

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HGNC: 1802

OMIM: 146520

KEGG: hsa:1041

STRING: 9606.ENSP00000365465

UniGene: Hs.310958