About: Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene

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About: Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Steroid 17 alpha-hydroxylase (CYP17A1, alias P450c17) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The CYP17A1 enzyme catalyzes two distinct reactions, 17 alpha-hydroxylase and 17,20-lyase activities. The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation found in three patients clinically and biochemically presenting with 17OHD. Steroid 17 alpha-hydroxylase (CYP17A1, alias P450c17) deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The CYP17A1 enzyme catalyzes two distinct reactions, 17 alpha-hydroxylase and 17,20-lyase activities. The aim of the study was to analyze the structural and functional consequences of three novel (A174E, V178D, and L465P) and one previously reported (R440C) CYP17A1 mutation found in three patients clinically and biochemically presenting with 17OHD. (en)
Title	Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene (en)
skos:prefLabel	Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene (en)
skos:notation	RIV/00064203:_____/09:5370!RIV10-MZ0-00064203
http://linked.open...avai/riv/aktivita	V
http://linked.open...avai/riv/aktivity	V
http://linked.open...iv/cisloPeriodika	8
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Lebl, Jan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	343824
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/09:5370
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	genotype-phenotype correlations; isolated 17,20-lyase deficiency; congenital adrenal-hyperplasia; differential inhibition; p450 oxidoreductase; cytochrome p450c17; point mutation; identification; aldosterone; female (en)
http://linked.open.../riv/klicoveSlovo	aldosterone point mutation female identification congenital adrenal-hyperplasia 20-lyase deficiency cytochrome p450c17 differential inhibition isolated 17 p450 oxidoreductase genotype-phenotype correlations
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[DFB131757690]
http://linked.open...i/riv/nazevZdroje	Journal of Clinical Endocrinology & Metabolism
http://linked.open...in/vavai/riv/obor	FB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	11 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	94
http://linked.open...iv/tvurceVysledku	Lebl, Jan Dhir, V. Arlt, W. Bleicken, CM Grotzinger, J. Kamrath, C. Krone, N. Reisch, N. Riepe, FG Schwarz, H. P. Sippell, WG
http://linked.open...ain/vavai/riv/wos	000268687700058
issn	0021-972X
number of pages	7 (xsd:int)

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