Property Summary

NCBI Gene PubMed Count 64
Grant Count 292
R01 Count 155
Funding $67,285,427.96
PubMed Score 1551.97
PubTator Score 130.92

Knowledge Summary

Patent

No data available

Gene

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.
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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
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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.
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