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CDSN encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia.
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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.
We found that a burden of low-frequency coding variants in N4BP2 (zeige N4BP2 ELISA Kits), CDSN, PRTG (zeige PRTG ELISA Kits), and AHRR (zeige CYP1A1 ELISA Kits) were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL (zeige NHLH1 ELISA Kits)/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL (zeige NHLH1 ELISA Kits)/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL (zeige NHLH1 ELISA Kits)/P
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.
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
Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease.
PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis
A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family.
CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis.
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.
identified mRNA transcripts from three genes CDSN, LOR (zeige LOR ELISA Kits) and KRT9 (zeige KRT9 ELISA Kits), showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification
These results underscore the essential roles of CDSN in hair physiology and suggest functional relevance of CDSN gene polymorphisms to psoriasis susceptibility.
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6.
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