anti-Corneodesmosin (CDSN) Antibodies

Human Corneodesmosin (CDSN) interaction partners

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.

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

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.

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

5. Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease.

6. PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis

7. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family.

8. CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis.

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.

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

11. Study of consangunity in a large family points to a homozygous nonesense mutation of the gene coding for corneodesmosin.

12. The distribution of corneodesmosin on the surface of the stratum corneum was mapped at the nanoscale using atomic force microscopy.

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.

14. Lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases.

15. identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp

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.

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.

18. phenotype of Netherton syndrome is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin

Mouse (Murine) Corneodesmosin (CDSN) interaction partners

1. These results underscore the essential roles of CDSN in hair physiology and suggest functional relevance of CDSN gene polymorphisms to psoriasis susceptibility.