Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing

This publication has 35 references indexed in Scilit:

• Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
  Clinical Genetics, 2008
• Mutation G827R in Matriptase Causing Autosomal Recessive Ichthyosis with Hypotrichosis Yields an Inactive Protease
  Journal of Biological Chemistry, 2008
• Inactivation of serine protease Matriptase1a by its inhibitor Hai1 is required for epithelial integrity of the zebrafish epidermis
  Development, 2007
• LEKTI Fragments Specifically Inhibit KLK5, KLK7, and KLK14 and Control Desquamation through a pH-dependent Interaction
  Molecular Biology of the Cell, 2007
• Caspase-14 protects against epidermal UVB photodamage and water loss
  Nature Cell Biology, 2007
• Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase
  American Journal of Human Genetics, 2007
• Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
  Nature Genetics, 2004
• GRR: graphical representation of relationship errors
  Bioinformatics, 2001
• Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
  Nature Genetics, 2000
• Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
  American Journal of Human Genetics, 1998