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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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Human Monoclonal Corneodesmosin Primary Antibody for ELISA, WB - ABIN560318
Fluhr, Lachmann, Baudouin, Msika, Darlenski, De Belilovsky, Bossert, Colomb, Burdin, Haftek: Development and organization of human stratum corneum after birth: electron microscopy isotropy score and immunocytochemical corneocyte labelling as epidermal maturation's markers in infancy. in The British journal of dermatology 2014
results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1 (show PSORS1C1 Antibodies)/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 (show N4BP2 Antibodies), CDSN, PRTG (show PRTG Antibodies), and AHRR (show CYP1A1 Antibodies) were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL (show NHLH1 Antibodies)/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL (show NHLH1 Antibodies)/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL (show NHLH1 Antibodies)/P
Investigated potential direct protein-protein interactions between six late cornified envelope (LCE (show ELOVL6 Antibodies)) proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 (show ELOVL6 Antibodies) and CDSN was observed in normal and psoriasis skin.
we report a patient with PSD (show PSD Antibodies) 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 (show PSORS1C1 Antibodies)/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 (show LOR Antibodies) and KRT9 (show KRT9 Antibodies), 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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