Mutations of the RET-GDNF signaling pathway in Ondine's curse

Am J Hum Genet. 1998 Mar;62(3):715-7. doi: 10.1086/301759.
No abstract available

Publication types

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

MeSH terms

  • Drosophila Proteins*
  • Endothelins / genetics
  • Endothelins / metabolism
  • Female
  • Frameshift Mutation
  • Glial Cell Line-Derived Neurotrophic Factor
  • Glial Cell Line-Derived Neurotrophic Factor Receptors
  • Heterozygote
  • Humans
  • Male
  • Nerve Growth Factors / genetics
  • Nerve Growth Factors / metabolism*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Pedigree
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism*
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor Protein-Tyrosine Kinases / metabolism*
  • Signal Transduction*
  • Sleep Apnea Syndromes / genetics
  • Sleep Apnea Syndromes / metabolism*

Substances

  • Drosophila Proteins
  • Endothelins
  • GDNF protein, human
  • Glial Cell Line-Derived Neurotrophic Factor
  • Glial Cell Line-Derived Neurotrophic Factor Receptors
  • Nerve Growth Factors
  • Nerve Tissue Proteins
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila