Property Summary

NCBI Gene PubMed Count 64
PubMed Score 1551.97
PubTator Score 130.92

Knowledge Summary

Patent

No data available

Gene RIF (26)

PMID Text
25078048 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.
24794518 Case Report: homozygous deletion of CDSN was considered to be responsible for generalized peeling skin disease.
24210685 PSORS1C1/CDSN gene may play a pathogenic role in ankylosing spondylitis
24116970 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
22875505 A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family.
22033905 CDSN -619C/T polymorphism may not be associated with susceptibility to psoriasis.
21628128 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.
21221983 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
21182673 The distribution of corneodesmosin on the surface of the stratum corneum was mapped at the nanoscale using atomic force microscopy.
21134591 Study of consangunity in a large family points to a homozygous nonesense mutation of the gene coding for corneodesmosin.
20691404 Lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases.
20448140 Data identifies hypotrichosis simplex of the scalp as a human amyloidosis related to the aggregation of natively unfolded (mut)CDSN polypeptides into amyloid fibrils.
19851445 Observational study of gene-disease association. (HuGE Navigator)
18369457 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16965413 Observational study of gene-disease association. (HuGE Navigator)
16642438 Observational study of gene-disease association. (HuGE Navigator)
16297191 Observational study of gene-disease association. (HuGE Navigator)
15953084 Observational study of gene-disease association. (HuGE Navigator)
15654960 Observational study of gene-disease association. (HuGE Navigator)
15466487 phenotype of Netherton syndrome is a consequence of desmosomal fragility associated with premature proteolysis of corneodesmosin
15333584 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.
15086562 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.
12754508 identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp
12653732 Observational study of gene-disease association. (HuGE Navigator)
12472658 Observational study of genotype prevalence, gene-disease association, and gene-gene interaction. (HuGE Navigator)
12366786 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKGDSSGFSSYSG      1 - 70
SSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSH     71 - 140
SGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTSGVSSSGQS    141 - 210
VSSNQRPCSSDIPDSPCSGGPIVSHSGPYIPSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPG    211 - 280
KPCPPITSVDKSYGGYEVVGGSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKY    281 - 350
FSSNPIIPSQSAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQ    351 - 420
SPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPSAGAKPCGSSS    421 - 490
AGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP                                   491 - 529
//

Text Mined References (66)

PMID Year Title
25078048 2014 Analysis of protein-protein interaction between late cornified envelope proteins and corneodesmosin.
24794518 2014 Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease.
24372652 2014 Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.
24210685 2014 PSORS1C1/CDSN is associated with ankylosing spondylitis.
24116970 2014 Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.
23957618 2013 Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.
23955597 2013 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
23746069 2014 A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
22875505 2012 [Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].
22146835 2012 Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
22033905 2011 Association of -619C/T polymorphism in CDSN gene and psoriasis risk: a meta-analysis.
21777220 2011 A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.
21738480 2011 Multiple loci are associated with white blood cell phenotypes.
21628128 2011 Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.
21307873 2011 Protease sensitivity of corneodesmosin variants encoded by the six more common CDSN haplotypes.
21221983 2011 mRNA-based skin identification for forensic applications.
21191406 2011 Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.
21182673 2010 Detection of corneodesmosin on the surface of stratum corneum using atomic force microscopy.
21134591 2010 [Peeling skin disease: the responsibility of corneodesmosin].
20691404 2010 Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
20448140 2010 A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
20041166 2009 Common genetic variation and the control of HIV-1 in humans.
19851445 2009 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
18460028 2008 Alterations in the desquamation-related proteolytic cleavage of corneodesmosin and other corneodesmosomal proteins in psoriatic lesional epidermis.
18369457 2008 Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population.
16965413 2006 Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes.
16642438 2006 Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16307662 2005 A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.
16297191 2005 The region of 150 kb telometic to HLA-C is associated with psoriasis in the Jewish population.
15953084 2005 Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations.
15716318 2005 Corneodesmosin polymorphisms in psoriatic arthritis.
15654960 2005 The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.
15529278 2005 Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15466487 2004 Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice.
15333584 2004 A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.
15086562 2004 Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain.
15086560 2004 A 4.2 kb upstream region of the human corneodesmosin gene directs site-specific expression in hair follicles and hyperkeratotic epidermis of transgenic mice.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12807967 2003 Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility.
12754508 2003 Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
12653732 2003 A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12472658 2002 Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).
12366786 2002 Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.
11739386 2002 Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties.
11556968 2001 Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families.
11454986 2001 Corneodesmosin expression in psoriasis vulgaris differs from normal skin and other inflammatory skin disorders.
11279026 2001 Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation.
11169256 2001 Identification of six novel polymorphisms in the human corneodesmosin gene.
10888604 2000 A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.
10844560 2000 S gene (Corneodesmosin) diversity and its relationship to psoriasis; high content of cSNP in the HLA-linked S gene.
10793007 2000 A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
10599883 1999 Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris.
10470726 1999 Corneodesmosin (MHC S) gene in guttate psoriasis.
10332047 1999 Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis.
9712893 1998 Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation.
9470901 1997 Expression of corneodesmosin in the granular layer and stratum corneum of normal and diseased epidermis.
9395522 1997 Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes.
8415725 1993 Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation.
7818278 1994 Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation.
4141628 1974 Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance.