About: APOE epsilon 4: a potential modulation factor in Rett syndrome

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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Rett syndrome is a neurodevelopmental disorder mainly caused by de novo mutations in the MECP2 (methyl-CpG-binding protein 2) gene. There is considerable variation in the severity of clinical features among Rett syndrome patients, even among patients with the same MECP2 mutation. In addition to X-chromosome inactivation pattern, the genetic background of the affected individual might also have a role in determining the severity of the disorder. We suggest that APOE is one of the genetic modulating factors. We analyzed clinical phenotypes of 46 patients with Rett syndrome, with confirmed MECP2 mutation. We discovered that among epsilon 4 carriers, some clinical features were more severe, and the developmental regression occurred 4 months earlier on average than in those without the e4 allele. Rett syndrome is a neurodevelopmental disorder mainly caused by de novo mutations in the MECP2 (methyl-CpG-binding protein 2) gene. There is considerable variation in the severity of clinical features among Rett syndrome patients, even among patients with the same MECP2 mutation. In addition to X-chromosome inactivation pattern, the genetic background of the affected individual might also have a role in determining the severity of the disorder. We suggest that APOE is one of the genetic modulating factors. We analyzed clinical phenotypes of 46 patients with Rett syndrome, with confirmed MECP2 mutation. We discovered that among epsilon 4 carriers, some clinical features were more severe, and the developmental regression occurred 4 months earlier on average than in those without the e4 allele. (en)
Title	APOE epsilon 4: a potential modulation factor in Rett syndrome APOE epsilon 4: a potential modulation factor in Rett syndrome (en)
skos:prefLabel	APOE epsilon 4: a potential modulation factor in Rett syndrome APOE epsilon 4: a potential modulation factor in Rett syndrome (en)
skos:notation	RIV/00216208:11110/10:7030!RIV11-MZ0-11110___
http://linked.open...avai/riv/aktivita	P S Z
http://linked.open...avai/riv/aktivity	P(NR9215), S, Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Baxová, Alice Záhoráková, Daniela Jáchymová, Marie Kemlink, David Martásek, Pavel
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 / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	247352
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7030
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	X-CHROMOSOME INACTIVATION; APOLIPOPROTEIN-E; ALZHEIMERS-DISEASE; DOWN-SYNDROME; GENOTYPE; ALLELE; MECP2; ONSET; MUTATIONS; CHOLESTEROL (en)
http://linked.open.../riv/klicoveSlovo	ALLELE APOLIPOPROTEIN-E DOWN-SYNDROME GENOTYPE ONSET X-CHROMOSOME INACTIVATION MUTATIONS ALZHEIMERS-DISEASE MECP2 CHOLESTEROL
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D96058AF7339]
http://linked.open...i/riv/nazevZdroje	Journal of Child Neurology
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular pathology and pathophysiology of neurodegenerative diseases accompanied by movement disorders
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	25
http://linked.open...iv/tvurceVysledku	Baxová, Alice Jáchymová, Marie Kemlink, David Martásek, Pavel Záhoráková, Daniela
http://linked.open...ain/vavai/riv/wos	000276950800003
http://linked.open...n/vavai/riv/zamer	Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	0883-0738
number of pages	5 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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