Inactivating mutations of G protein-coupled receptors and diseases: Structure-function insights and therapeutic implications

This publication has 319 references indexed in Scilit:

• The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
  Fertility and Sterility, 2005
• Anatomy and regulation of the central melanocortin system
  Nature Neuroscience, 2005
• Novel MC1R variants in Ligurian melanoma patients and controls
  Human Mutation, 2004
• Thr40 and Met122 are new partial loss‐of‐function natural mutations of the human melanocortin 1 receptor
  FEBS Letters, 2001
• Functional Analysis of Five Endothelin-B Receptor Mutations Found in Human Hirschsprung Disease Patients
  Biochemical and Biophysical Research Communications, 2000
• Loss of Function Mutations of the Human Melanocortin 1 Receptor Are Common and Are Associated with Red Hair
  Biochemical and Biophysical Research Communications, 1999
• Human Pigmentation Phenotype: A Point Mutation Generates Nonfunctional MSH Receptor
  Biochemical and Biophysical Research Communications, 1998
• V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms
  Human Mutation, 1998
• Adrenocorticotropin‐resistant mutants of the Y1 adrenal cell line fail to express the adrenocorticotropin receptor
  Journal of Cellular Physiology, 1995
• Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
  FEBS Letters, 1992