Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.
暂无分享,去创建一个
S. Gitelman | W. Miller | D. Lin | P. Saenger | Walter L. Miller | Dong Lin | S. Gitelman | Paul Saenger
[1] W. Miller,et al. Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25. , 1991, DNA and cell biology.
[2] J. Lambeth,et al. Stimulation of adrenal mitochondrial cholesterol side-chain cleavage by GTP, steroidogenesis activator polypeptide (SAP), and sterol carrier protein2. GTP and SAP act synergistically. , 1991, The Journal of biological chemistry.
[3] H. Rennert,et al. Cloning and expression of a cDNA encoding human sterol carrier protein 2. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[4] H. Rennert,et al. A cDNA encoding a rat mitochondrial cytochrome P450 catalyzing both the 26-hydroxylation of cholesterol and 25-hydroxylation of vitamin D3: gonadotropic regulation of the cognate mRNA in ovaries. , 1990, DNA and cell biology.
[5] W. Miller,et al. Cloning and sequence of the human adrenodoxin reductase gene. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[6] T. Mohandas,et al. Structure, sequence, chromosomal location, and evolution of the human ferredoxin gene family. , 1990, DNA and cell biology.
[7] W. Miller. Immunoassays for human müllerian inhibitory factor (MIF): new insights into the physiology of MIF. , 1990, The Journal of clinical endocrinology and metabolism.
[8] A. S. Lee,et al. The rat 78,000 dalton glucose-regulated protein (GRP78) as a precursor for the rat steroidogenesis-activator polypeptide (SAP): the SAP coding sequence is homologous with the terminal end of GRP78. , 1989, Molecular endocrinology.
[9] W. Miller,et al. Extraadrenal steroid 21-hydroxylation is not mediated by P450c21. , 1989, The Journal of clinical investigation.
[10] T D Lee,et al. Identification of des-(Gly-Ile)-endozepine as an effector of corticotropin-dependent adrenal steroidogenesis: stimulation of cholesterol delivery is mediated by the peripheral benzodiazepine receptor. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[11] M. Forest,et al. Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types. , 1989, The Journal of clinical endocrinology and metabolism.
[12] W. Miller. Regulation of mRNAs for human steroidogenic enzymes. , 1989, Endocrine research.
[13] J. Cupp,et al. Identification of free and [Fe2S2]-bound cysteine residues of adrenodoxin. , 1988, The Journal of biological chemistry.
[14] W L Miller,et al. Cloning and structure of the human adrenodoxin gene. , 1988, DNA.
[15] K. Yanagibashi,et al. The regulation of intracellular transport of cholesterol in bovine adrenal cells: purification of a novel protein. , 1988, Endocrinology.
[16] T. Mohandas,et al. Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[17] W L Miller,et al. Molecular biology of steroid hormone synthesis. , 1988, Endocrine reviews.
[18] T. Mohandas,et al. Assignment of the functional gene for human adrenodoxin to chromosome 11q13----qter and of adrenodoxin pseudogenes to chromosome 20cen----q13.1. , 1988, American journal of human genetics.
[19] R. Voutilainen,et al. Human adrenodoxin: cloning of three cDNAs and cycloheximide enhancement in JEG-3 cells. , 1988, The Journal of biological chemistry.
[20] W. Miller,et al. Molecular and Clinical Advances in Congenital Adrenal Hyperplasia , 1987 .
[21] A. Brownie,et al. Steroidogenesis-activator polypeptide isolated from a rat Leydig cell tumor. , 1987, Science.
[22] T. Rose,et al. Bovine and human cDNA sequences encoding a putative benzodiazepine receptor ligand. , 1987, DNA.
[23] Y. Fujii‐Kuriyama,et al. Gene structure of human cytochrome P-450(SCC), cholesterol desmolase. , 1987, Journal of biochemistry.
[24] W L Miller,et al. Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[25] W. Miller,et al. Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. , 1986, Endocrinology.
[26] K. Mullis,et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. , 1985, Science.
[27] W. Miller,et al. CONGENITAL ADRENAL HYPERPLASIA DUE TO DEFICIENT CHOLESTEROL SIDE‐CHAIN CLEAVAGE ACTIVITY (20, 22‐DESMOLASE) IN A PATIENT TREATED FOR 18 YEARS , 1985, Clinical endocrinology.
[28] E. Chen,et al. Supercoil sequencing: a fast and simple method for sequencing plasmid DNA. , 1985, DNA.
[29] Henry A. Erlich,et al. Enzymatic amplification of ?-globin genomic sequences and restriction site analysis for diagnosis of , 1985 .
[30] P. Saenger. Abnormal sex differentiation. , 1984, The Journal of pediatrics.
[31] R. Chanderbhan,et al. Sterol carrier protein2. Identification of adrenal sterol carrier protein2 and site of action for mitochondrial cholesterol utilization. , 1983, The Journal of biological chemistry.
[32] M. Casey,et al. Conversion of progesterone to deoxycorticosterone in the human fetus: steroid 21-hydroxylase activity in fetal tissues. , 1983, Journal of steroid biochemistry.
[33] A. Brownie,et al. Cholesterol side-chain cleavage in the rat adrenal cortex: isolation of a cycloheximide-sensitive activator peptide. , 1983, Proceedings of the National Academy of Sciences of the United States of America.
[34] M. Casey,et al. Extraadrenal formation of a mineralocorticosteroid: deoxycorticosterone and deoxycorticosterone sulfate biosynthesis and metabolism. , 1982, Endocrine reviews.
[35] R. Chanderbhan,et al. Sterol carrier protein2. Delivery of cholesterol from adrenal lipid droplets to mitochondria for pregnenolone synthesis. , 1982, The Journal of biological chemistry.
[36] K. Wikvall,et al. Hydroxylations in Biosynthesis of Bile Acids , 1982 .
[37] A. Delegeane,et al. Highly conserved glucose-regulated protein in hamster and chicken cells: preliminary characterization of its cDNA clone. , 1981, Proceedings of the National Academy of Sciences of the United States of America.
[38] J. I. Pedersen,et al. Properties of a reconstituted vitamin D3 25-hydroxylase from rat liver mitochondria. , 1980, The Journal of biological chemistry.
[39] E. Simpson. Cholesterol side-chain cleavage, cytochrome P450, and the control of steroidogenesis , 1979, Molecular and Cellular Endocrinology.
[40] F. Sanger,et al. DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.
[41] Koizumi Shoichi,et al. Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease) , 1977 .
[42] T. Funabashi,et al. Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). , 1977, Clinica chimica acta; international journal of clinical chemistry.
[43] J. Kirkland,et al. Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female. , 1973, The Journal of clinical endocrinology and metabolism.
[44] H. Degenhart,et al. Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. , 1972, Acta endocrinologica.
[45] C. Migeon,et al. Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone. , 1968, The Journal of clinical endocrinology and metabolism.
[46] A. Sandison. A Form of Lipoidosis of the Adrenal Cortex in an Infant , 1955, Archives of disease in childhood.
[47] W. Kemp. The Adrenal Cortex , 1937, British medical journal.