About: Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

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About: Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1016/j.ejmg.2010.10.005
Description	Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in the majority of severe cases, also the biosynthesis of aldosterone. Approximately 95% of all CAH cases are caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene and its inactive pseudogene (CYP21A1P) are located within the HLA class III region of the major histocompatibility complex (MHC) locus on chromosome 6p21.3. In this study, we describe chimeric CYP21A1P/. CYP21A2 genes detected in our patients with 21-hydroxylase deficiency (21OHD). Chimeric CYP21A1P/. CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%). We detected four types of chimeric CYP21A1P/. CYP21A2 genes: three of them have been described previously as CH-1, CH-3, CH-4, and one type is novel. The novel chimeric gene, termed CH-7, was detected in 21.4% of the mutant alleles. Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in the majority of severe cases, also the biosynthesis of aldosterone. Approximately 95% of all CAH cases are caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene and its inactive pseudogene (CYP21A1P) are located within the HLA class III region of the major histocompatibility complex (MHC) locus on chromosome 6p21.3. In this study, we describe chimeric CYP21A1P/. CYP21A2 genes detected in our patients with 21-hydroxylase deficiency (21OHD). Chimeric CYP21A1P/. CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%). We detected four types of chimeric CYP21A1P/. CYP21A2 genes: three of them have been described previously as CH-1, CH-3, CH-4, and one type is novel. The novel chimeric gene, termed CH-7, was detected in 21.4% of the mutant alleles. (en)
Title	Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia (en)
skos:prefLabel	Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia (en)
skos:notation	RIV/00216208:11120/11:00003167!RIV12-MZ0-11120___
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(LC06023), P(NR9308), P(NS9981), Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Votava, Felix
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	Univerzita Karlova v Praze / 3. lékařská fakulta
http://linked.open...dnocenehoVysledku	190185
http://linked.open...ai/riv/idVysledku	RIV/00216208:11120/11:00003167
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Hydroxylase deficiency; Chimeric gene; Congenital adrenal hyperplasia; Steroid 21-hydroxylase gene (en)
http://linked.open.../riv/klicoveSlovo	Chimeric gene Congenital adrenal hyperplasia Hydroxylase deficiency Steroid 21-hydroxylase gene
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[93CD95E13695]
http://linked.open...i/riv/nazevZdroje	European Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling. Improvement of molecular diagnostics of congenital adrenal hyperplasia (CAH) Analysis of CYP21 genes in newborns with mild elevated 17-hydroxyprogesterone level.
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	54
http://linked.open...iv/tvurceVysledku	Votava, Felix Vrzalová, Zuzana
http://linked.open...ain/vavai/riv/wos	000293744000003
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
issn	1769-7212
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1016/j.ejmg.2010.10.005
http://localhost/t...ganizacniJednotka	11120

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