title: [Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].
authors.forename: Koji
authors.initials: K
authors.lastname: Okuhara
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000150:complications / Q000151:congenital / Q000235:genetics*; D000328:Adult; D000818:Animals; D002478:Cells, Cultured; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D008040:Genetic Linkage; D006062:Gonadotropins / Q000172:deficiency; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics*; D037101:Luteinizing Hormone, beta Subunit / Q000235:genetics*; D008297:Male; D051379:Mice; D009154:Mutation; D011401:Promoter Regions, Genetic; D051381:Rats; D018168:Receptors, Retinoic Acid / Q000235:genetics* / Q000502:physiology; D012097:Repressor Proteins / Q000235:genetics* / Q000502:physiology; D014960:X Chromosome / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D006062:Gonadotropins; D037101:Luteinizing Hormone, beta Subunit; C539965:NR0B1 protein, human; C539966:Nr0b1 protein, mouse; C539967:Nr0b1 protein, rat; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins