title: [Analyses of dominant mutations and their phenotypes: unraveling of physiological functions of retinoid and identification of the responsible gene for Machado-Joseph disease].
authors.affiliation: Department of Pharmacology, Kyoto University Faculty of Medicine.
authors.forename: A
authors.initials: A
authors.lastname: Kakizuka
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018014:Gene Transfer Techniques; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics*; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011099:Polyglutamic Acid / Q000502:physiology; D018168:Receptors, Retinoic Acid / Q000235:genetics / Q000502:physiology; D012867:Skin; D014212:Tretinoin / Q000737:chemistry / Q000494:pharmacology / Q000502:physiology*; D018911:Trinucleotide Repeats
chemical_list: D018168:Receptors, Retinoic Acid; D011099:Polyglutamic Acid; D014212:Tretinoin