Associated Papers
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Doolan BJ et al.
Experimental Dermatology, 2020
Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo.
Rietscher K et al.
The Journal of Investigative Dermatology, 2016
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.
Boyce AE et al.
The Australasian Journal of Dermatology, 2012
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
Ersoy-Evans S et al.
Journal of the American Academy of Dermatology, 2006
Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome.
Fassihi H et al.
The British Journal of Dermatology, 2006
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
Wessagowit V et al.
Acta Dermato-venereologica, 2005
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.
Zheng R et al.
Acta Dermato-venereologica, 2005
Plakophilin 1: an important stabilizer of desmosomes.
South AP
Clinical and Experimental Dermatology, 2004
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.
Sprecher E et al.
The Journal of Investigative Dermatology, 2004
Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1.
McMillan JR et al.
The Journal of Investigative Dermatology, 2003
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
Hamada T et al.
Experimental Dermatology, 2002
A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.
McGrath JA
The Journal of Dermatology, 1999
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
McGrath JA et al.
The British Journal of Dermatology, 1999
Ectodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing.
Chandra Konda S et al.
Indian Journal of Dermatology, Venereology and Leprology, 0