Associated Papers
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
Peled A et al.
The British Journal of Dermatology, 2020
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
van der Velden JJAJ et al.
The Journal of Dermatology, 2020
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Genetics of human isolated hereditary hair loss disorders.
Basit S et al.
Clinical Genetics, 2015
Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.
Wada T et al.
Clinical Genetics, 2014
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.
Yang SX et al.
Clinical and Experimental Dermatology, 2014
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
Telem DF et al.
Archives of Dermatological Research, 2012
Congenital hair loss disorders: rare, but not too rare.
Shimomura Y
The Journal of Dermatology, 2012
A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.
Mazereeuw-Hautier J et al.
The British Journal of Dermatology, 2011
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.
Caubet C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.
Oji V et al.
American Journal of Human Genetics, 2010
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
Levy-Nissenbaum E et al.
Nature Genetics, 2003