About: No association with the ETM2 locus in Czech patients with familial essential tremor

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: No association with the ETM2 locus in Czech patients with familial essential tremor 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
Description	OBJECTIVES: Essential tremor (ET) is one of the most common neurological movement disorders. In more than half of the cases, ET is inherited in an autosomal dominant manner, but no causative ET gene has been identified. However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent. METHODS: To ascertain the association with ETM2, we performed a genetic analysis of three polymorphic loci, etm1231, etm1234, and etm1240, located within the ETM2 candidate region in 61 Czech patients with a family history of ET and 68 healthy controls. RESULTS: The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotype specifically associated with ET. CONCLUSIONS: This is the first report on the genetics of familial essential tremor in Czech patients. Our findings provide further evidence of genetic heterogeneity for ET. OBJECTIVES: Essential tremor (ET) is one of the most common neurological movement disorders. In more than half of the cases, ET is inherited in an autosomal dominant manner, but no causative ET gene has been identified. However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent. METHODS: To ascertain the association with ETM2, we performed a genetic analysis of three polymorphic loci, etm1231, etm1234, and etm1240, located within the ETM2 candidate region in 61 Czech patients with a family history of ET and 68 healthy controls. RESULTS: The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotype specifically associated with ET. CONCLUSIONS: This is the first report on the genetics of familial essential tremor in Czech patients. Our findings provide further evidence of genetic heterogeneity for ET. (en)
Title	No association with the ETM2 locus in Czech patients with familial essential tremor No association with the ETM2 locus in Czech patients with familial essential tremor (en)
skos:prefLabel	No association with the ETM2 locus in Czech patients with familial essential tremor No association with the ETM2 locus in Czech patients with familial essential tremor (en)
skos:notation	RIV/00216208:11110/10:7078!RIV11-MZ0-11110___
http://linked.open...avai/riv/aktivita	P S Z
http://linked.open...avai/riv/aktivity	P(NR9215), S, Z(MSM0021620806), Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Záhoráková, Daniela Kofránková, Marie Růžička, Evžen Kemlink, David Roth, Jan Martásek, Pavel Ulmanová, Olga
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	274929
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7078
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	essential tremor; ETM2; microsatellite marker; haplotype analysis; Czech; hs1-bp3 gene; haplotype analysis; variant; risk; heterogeneity; prevalence; sequence; disorder; common; maps (en)
http://linked.open.../riv/klicoveSlovo	maps common Czech disorder prevalence risk variant sequence haplotype analysis essential tremor heterogeneity ETM2 hs1-bp3 gene microsatellite marker
http://linked.open...odStatuVydavatele	SE - Švédské království
http://linked.open...ontrolniKodProRIV	[26DE8BE5CAE4]
http://linked.open...i/riv/nazevZdroje	Neuroendocrinology letters
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	7 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (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	31
http://linked.open...iv/tvurceVysledku	Kemlink, David Roth, Jan Růžička, Evžen Martásek, Pavel Ulmanová, Olga Záhoráková, Daniela Kofránková, Marie
http://linked.open...ain/vavai/riv/wos	000282674300018
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	0172-780X
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 58 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software