Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa)

J Invest Dermatol. 2012 Oct;132(10):2459-2461. doi: 10.1038/jid.2012.162. Epub 2012 May 24.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amyloid Precursor Protein Secretases / genetics*
  • Codon, Nonsense / genetics
  • Cohort Studies
  • Female
  • Frameshift Mutation / genetics
  • Germ-Line Mutation / genetics
  • Heterozygote
  • Hidradenitis Suppurativa / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Presenilin-1 / genetics*
  • Severity of Illness Index

Substances

  • Codon, Nonsense
  • Membrane Glycoproteins
  • Membrane Proteins
  • PSEN1 protein, human
  • PSENEN protein, human
  • Presenilin-1
  • nicastrin protein
  • Amyloid Precursor Protein Secretases