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

This publication has 19 references indexed in Scilit:

• Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
  Nature Genetics, 2003
• Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
  Published by Elsevier ,2003
• Genotype–phenotype correlation in skin fragility‐ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
  Experimental Dermatology, 2002
• Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
  The Journal of cell biology, 2001
• Nonsense-mediated mRNA decayin health and disease
  Human Molecular Genetics, 1999
• The Head Domain of Plakophilin-1 Binds to Desmoplakin and Enhances Its Recruitment to Desmosomes
  Published by Elsevier ,1999
• Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
  British Journal of Dermatology, 1999
• Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
  Nature Genetics, 1997
• Delayed postburn blisters: an immunohistochemical and ultrastructural study
  Journal of Cutaneous Pathology, 1997
• CONGENITAL POIKILODERMA WITH TRAUMATIC BULLA FOKMATION AND PROGRESSIVE CUTANEOUS ATROPHY.
  British Journal of Dermatology, 1954