Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

This publication has 19 references indexed in Scilit:

• N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
  Human Molecular Genetics, 1999
• Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
  British Journal of Dermatology, 1999
• Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma [published erratum appears in Hum Mol Genet 1999 May;8(5):943]
  Human Molecular Genetics, 1999
• Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
  Nature Genetics, 1997
• Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly.
  The Journal of cell biology, 1996
• Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
  Human Molecular Genetics, 1995
• Anterior axis duplication in Xenopus induced by the over-expression of the cadherin-binding protein plakoglobin.
  Proceedings of the National Academy of Sciences, 1995
• Desmosome assembly and disassembly are regulated by reversible protein phosphorylation in cultured epithelial cells
  Cell Motility, 1995
• Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.
  The Journal of cell biology, 1994
• Molecular structure of the human desmoplakin I and II amino terminus.
  Proceedings of the National Academy of Sciences, 1992