About: Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

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About: Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1371/journal.pone.0107585
Description	Objective: The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. Methods: A total of 70 early-onset Parkinson's disease patients (age at onset #40 years) and 75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. Results: Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G.A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients. Conclusions: Our study contributes to the growing body of evidence on the low frequency of the parkin mutations in the early-onset Parkinson's disease suggesting the potential role of other genes in the pathogenesis of the disease Objective: The aim of the study is to determine the frequency of parkin allelic variants in Czech early-onset Parkinson's disease patients and healthy controls. Methods: A total of 70 early-onset Parkinson's disease patients (age at onset #40 years) and 75 controls were screened for the sequence variants and exon rearrangements in the parkin gene. Results: Parkin mutations were identified in five patients (7.1%): the p.R334C point mutation was present in one patient, four patients had exon deletions. The detected mutations were observed in the heterozygous state except one homozygous deletion of the exon 4. No mutations were obtained in control subjects. A novel sequence variant p.V380I (c.1138G.A) was identified in one control. Non-pathogenic polymorphisms p.S167N and p.D394N were seen in similar percentage in patients and controls, polymorphism p.V380L was almost twice as frequent in controls as in patients. Conclusions: Our study contributes to the growing body of evidence on the low frequency of the parkin mutations in the early-onset Parkinson's disease suggesting the potential role of other genes in the pathogenesis of the disease (en)
Title	Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease (en)
skos:prefLabel	Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease (en)
skos:notation	RIV/00216208:11110/14:10279689!RIV15-MSM-11110___
http://linked.open...avai/riv/aktivita	I S
http://linked.open...avai/riv/aktivity	I, S
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Záhoráková, Daniela Růžička, Evžen Roth, Jan Martásek, Pavel Fiala, Ondřej Pospíšilová, Lenka Kučerová, Jana
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	35783
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/14:10279689
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	FEATURES; DIAGNOSIS; FREQUENCY; ASSOCIATION; PINK1; VARIANT; METAANALYSIS; GENE-MUTATIONS; NONMOTOR SYMPTOMS (en)
http://linked.open.../riv/klicoveSlovo	GENE-MUTATIONS NONMOTOR SYMPTOMS PINK1 VARIANT FEATURES ASSOCIATION METAANALYSIS FREQUENCY DIAGNOSIS
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D71CAA51AD74]
http://linked.open...i/riv/nazevZdroje	PLoS ONE
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	9
http://linked.open...iv/tvurceVysledku	Fiala, Ondřej Kučerová, Jana Roth, Jan Růžička, Evžen Martásek, Pavel Matějčková, Milada Pospíšilová, Lenka Záhoráková, Daniela
http://linked.open...ain/vavai/riv/wos	000342491600032
issn	1932-6203
number of pages	6 (xsd:int)
http://bibframe.org/vocab/doi	10.1371/journal.pone.0107585
http://localhost/t...ganizacniJednotka	11110

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