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Article(3)
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Journal of Steroid Biochemistry and Molecular Biology(2)
Journal of the Endocrine Society(1)
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Bioquímica(1)
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scopus(3)
A 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: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:scopusPbkp_redicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing
ArticleAbstract: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present witPalabras claves:Addison disease, CYP11A1, Cytochrome p450scc, Side chain cleavage enzyme, Silent variantAutores:Achermann J.C., Brain C.E., Buonocore F., Burgos-Tirado N., Capper C.P., Cariou B., Cheetham T.D., Conwell L.S., Couch R., Crowne E., Donaldson M.D., Drui D., Duncan E.L., Fowler D.J., Guasti L., Gupta S., Guran T., Gurbuz F., Harris M., Hindmarsh P.C., Hughes C.R., Johnson S., Lindsay R., Lopez-Siguero J.P., Maharaj A., Maudhoo A., McInerney-Leo A.M., Meimaridou E., Metherell L.A., Peng H.M., Prasad R., Richard J. Auchus, Ruiz-Babot G., Spoudeas H.A., Striglioni N., Suntharalingham J.P., Yuksel B.Fuentes:scopus