Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis

Eur Respir J. 2019 Aug 1;54(2):1900430. doi: 10.1183/13993003.00430-2019. Print 2019 Aug.
No abstract available

Publication types

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

MeSH terms

  • Autophagy*
  • Exome
  • Family Health
  • Female
  • France
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Sarcoidosis / genetics*
  • TOR Serine-Threonine Kinases / genetics*
  • Virulence
  • Whole Exome Sequencing*
  • rac1 GTP-Binding Protein / genetics

Substances

  • RAC1 protein, human
  • MTOR protein, human
  • TOR Serine-Threonine Kinases
  • rac1 GTP-Binding Protein