Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Doolan BJ et al.
Experimental Dermatology, 2020
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Hair abnormalities in genetic disorders of junctions.
Yesudian PD
International Journal of Trichology, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Diseases of epidermal keratins and their linker proteins.
Uitto J et al.
Experimental Cell Research, 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
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
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
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
McGrath JA et al.
Nature Genetics, 1997
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