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Journal of Clinical Endocrinology and Metabolism(10)
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scopus(43)
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patien
ArticleAbstract: Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rarePalabras claves:Autores:Costenaro F., Czepielewski M., Kater C.E., Papari-Zareei M., Richard J. Auchus, Rodrigues T.Fuentes:scopusAnalysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review
ArticleAbstract: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder characterized by severePalabras claves:Aldosterone synthesis, CYP11B2 mutations, Hypoaldosteronism, next-generation sequencingAutores:Chen S., Gong F., Jiang J., Liu J., Lu L., Lu Z., Miao H., Pan H., Richard J. Auchus, Yu Z., Zhu H.Fuentes:scopus46,XX DSD: The masculinised female
ReviewAbstract: The 46,XX disorders of sex development (DSDs) cause virilisation or masculinisation of the female foPalabras claves:46,XX DSD, Adrenal gland, androgen, Congenital adrenal hyperplasia, steroidogenesis, VirilisationAutores:Chang A.Y., Richard J. AuchusFuentes:scopusA high rate of novel CYP11B1 mutations in Saudi Arabia
ArticleAbstract: Despite ethnic variation, 11 β-hydroxylase deficiency (11β-OHD) has generally been considered the sePalabras claves:Ambiguous genitalia, Congenital adrenal hyperplasia, CYP11B1, MutationsAutores:Al-Sagheir A., Alhomaidah D., Alswailem M., Alzahrani A., Alzahrani O., Bin-Abbas B., Capper C.P., Murugan A., Qasem E., Richard J. AuchusFuentes:scopusA homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): Insights into the pathophysiology of HGPS
ArticleAbstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by aPalabras claves:Aging disorder, HGPS, Hutchinson-Gilford progeria syndrome, Lamin A, LMNA, Mandibuloacral dysplasia, Nuclear lamina, ZMPSTE24Autores:Agarwal A.K., Brune T., Denecke J., Feldhaus T., Kranz C., Marquardt T., Richard J. Auchus, Robenek H.Fuentes:scopusA novel point mutation in P450c17 (CYP17) causing combined 17α-hydroxylase/17,20-lyase deficiency
ArticleAbstract: Context: Combined 17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperPalabras claves:Autores:Achermann J.C., Ahmad T., Brooke A.M., Gore M.E., Lin L., Monson J.P., Papari-Zareei M., Richard J. Auchus, Rumsby G., Shepherd J.H., Taylor N.F.Fuentes:scopusCYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding
ArticleAbstract: Cytochrome P450c17 (CYP17) converts the C21 steroids pregnenolone and progesterone to the C19 androgPalabras claves:Autores:Hochberg Z., Kwist K.W., Richard J. Auchus, Sherbet D.P., Tiosano D.Fuentes:scopusCYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency
ArticleAbstract: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenitalPalabras claves:Autores:Chao M.C., Chen H.C., Holterhus P.M., Hung C.C., Hwang D.Y., Hwang S.J., Kulle A.E., Kuo M.C., Richard J. Auchus, Riepe F.G.Fuentes:scopusAldosterone Synthase Promoter Polymorphism and Cardiovascular Phenotypes in a Large, Multiethnic Population-Based Study
ArticleAbstract: Background A single-nucleotide polymorphism in the aldosterone synthase gene (CYP11B2) promoter [-34Palabras claves:aldosterone, Genetics, glucose, Hypertension, left ventricular massAutores:Byrd J.B., Richard J. Auchus, White P.C.Fuentes:scopusFunctional characterization of the G162R and D216H genetic variants of human CYP17A1
ArticleAbstract: Cytochrome P450 17A1 (CYP17A1) is a dual-function enzyme catalyzing reactions necessary for cortisolPalabras claves:CYP17A1, Cytochrome p450, Proteasome, steroidogenesis, UbiquitinationAutores:Capper C.P., Hollenberg P.F., Johnson M.D., Larios J.M., Liu J., McIntosh L.R., Osawa Y., Rae J.M., Richard J. AuchusFuentes:scopus