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  • 1
    Publication Date: 1995-03-24
    Description: Congenital lipoid adrenal hyperplasia is an autosomal recessive disorder that is characterized by impaired synthesis of all adrenal and gonadal steroid hormones. In three unrelated individuals with this disorder, steroidogenic acute regulatory protein, which enhances the mitochondrial conversion of cholesterol into pregnenolone, was mutated and nonfunctional, providing genetic evidence that this protein is indispensable normal adrenal and gonadal steroidogenesis.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lin, D -- Sugawara, T -- Strauss, J F 3rd -- Clark, B J -- Stocco, D M -- Saenger, P -- Rogol, A -- Miller, W L -- HD 06274/HD/NICHD NIH HHS/ -- HD 07688/HD/NICHD NIH HHS/ -- HD 28825/HD/NICHD NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1995 Mar 24;267(5205):1828-31.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pediatrics, University of California, San Francisco 94143.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7892608" target="_blank"〉PubMed〈/a〉
    Keywords: Adrenal Glands/*metabolism ; Adrenal Hyperplasia, Congenital/metabolism ; Amino Acid Sequence ; Animals ; Base Sequence ; Biological Transport/physiology ; Cell Line ; Cholesterol/*metabolism ; Female ; Gonads/*metabolism ; Haplorhini ; Hormones/*biosynthesis ; Humans ; Male ; Mitochondria/metabolism ; Molecular Sequence Data ; Phosphoproteins/genetics/*physiology ; Point Mutation ; Steroids/*biosynthesis ; Transfection
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 1979-10-26
    Description: Increases in plasma prolactin concentrations produced by alpha-methyl-p-tyrosine, a catecholamine synthesis inhibitor, varied inversely with baseline platelet monoamine oxidase activity in 12 patients with chronic schizophrenia. In normal volunteers with low monoamine oxidase activity and in unmedicated patients with chronic schizophrenia, plasma prolactin concentrations varied directly with platelet monoamine oxidase activity. No such relationship was found in normal subjects with high platelet monoamine oxidase activity. These data suggest that platelet monoamine oxidase activity reflects monoaminergic activity in the tubero-infundibular system, which in turn affects plasma prolactin concentrations. This relationship may be important in patients with low platelet monoamine oxidase activity, such as some chronic schizophrenics.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kleinman, J E -- Potkin, S -- Rogol, A -- Buchsbaum, M S -- Murphy, D L -- Gillin, J C -- Nasrallah, H A -- Wyatt, R J -- New York, N.Y. -- Science. 1979 Oct 26;206(4417):479-81.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/504993" target="_blank"〉PubMed〈/a〉
    Keywords: Blood Platelets/*enzymology ; Humans ; Hypothalamus/physiology ; Methyltyrosines/pharmacology ; Monoamine Oxidase/*blood ; Prolactin/*blood ; Schizophrenia/blood
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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