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scopus(11)
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
ReviewAbstract: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisolPalabras claves:21-hydroxylase deficiency, aldosterone, cortisol, CYP21A2, Glucocorticoid, mineralocorticoid, Steroid biosynthesisAutores:Arlt W., Faisal Ahmed S., Falhammar H., Flück C.E., Guasti L., Huebner A., Kortmann B.B.M., Krone N., Merke D.P., Miller W.L., Nordenström A., Reisch N., Richard J. Auchus, Sandberg D.E., Speiser P.W., Stikkelbroeck N.M.M.L., Touraine P., Utari A., van der Grinten H.L.C., White P.C., Wudy S.A.Fuentes:scopusCongenital adrenal hyperplasia - More dogma bites the dust
OtherAbstract:Palabras claves:Autores:Miller W.L., Richard J. AuchusFuentes:scopusDefects in androgen biosynthesis causing 46,XY disorders of sexual development
ArticleAbstract: At least one genetic defect in each reaction of the classical androgen biosynthesis pathway has beenPalabras claves:46 XY DSD, androgen, Congenital adrenal hyperplasia, Enzyme, Steroid, steroidogenesis, Testis, TestosteroneAutores:Miller W.L., Richard J. AuchusFuentes:scopusEnzymatic activities of P450c17 stably expressed in fibroblasts from patients with the polycystic ovary syndrome
ArticleAbstract: Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting approximately 5-10% of womPalabras claves:Autores:Arlt W., Dunaif A., Geller D.H., Martens J.W.M., Miller W.L., Ossovskaya V.S., Richard J. Auchus, Rodriguez H.Fuentes:scopusP450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b<inf>5</inf>
ArticleAbstract: Cytochrome P450c17 catalyzes steroid 17α-hydroxylase and 17,20-lyase activities and hence is a key ePalabras claves:Autores:Geller D.H., Miller W.L., Richard J. AuchusFuentes:scopusThe Principles, Enzymes, and Pathways of Human Steroidogenesis
Book PartAbstract:Palabras claves:Autores:Miller W.L., Richard J. AuchusFuentes:scopusThe genetic and functional basis of isolated 17, 20-lyase deficiency
OtherAbstract: Human male sexual differentiation requires production of fetal testicular testosterone, whose biosynPalabras claves:Autores:Geller D.H., Mendonça B.B., Miller W.L., Richard J. AuchusFuentes:scopusThe molecular basis of isolated 17,20 lyase deficiency
Conference ObjectAbstract: Human P450c17 catalyzes the 17α-hydroxylation of pregnenolone to 17OH pregnenolone and of progesteroPalabras claves:Autores:Geller D.H., Miller W.L., Richard J. AuchusFuentes:scopusThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders
ArticleAbstract: Steroidogenesis entails processes by which cholesterol is converted to biologically active steroid hPalabras claves:Autores:Miller W.L., Richard J. AuchusFuentes:scopusThe regulation of human P450c17 activity: Relationship to premature adrenarche, insulin resistance and the polycystic ovary syndrome
ArticleAbstract: The polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism and insulin resistance, buPalabras claves:Autores:Geller D.H., Lee T.C., Miller W.L., Richard J. AuchusFuentes:scopus