The β9 loop domain of PA-PLA1α has a crucial role in autosomal recessive woolly hair/hypotrichosis

J Invest Dermatol. 2012 Aug;132(8):2093-5. doi: 10.1038/jid.2012.96. Epub 2012 Apr 5.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Female
  • Genes, Recessive
  • HEK293 Cells
  • Hair Diseases / genetics*
  • Hair Diseases / metabolism
  • Humans
  • Hydrolysis
  • Hypotrichosis / genetics*
  • Hypotrichosis / metabolism
  • Lipase / chemistry*
  • Lipase / genetics
  • Molecular Sequence Data
  • Mutation
  • Mutation, Missense
  • Pedigree
  • Phosphatidylserines / chemistry
  • Phospholipases A1 / chemistry*
  • Phospholipases A1 / genetics
  • Protein Structure, Tertiary

Substances

  • LIPC protein, human
  • Phosphatidylserines
  • Lipase
  • PLA1A protein, human
  • Phospholipases A1