About: The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease

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About: The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease Goto Sponge Distinct 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/10.1002/mds.23436
Description	The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. Although the Cox regression coefficient of 0.15 was significant (P < 0.0001), the regression model explained only 28% of the variance of the age at onset related to the effect of the number of CAG repeats within normal allele. Within the groups of patients with the same number of CAG repeats of the mutant allele, number of CAG repeats of the normal allele was found uncorrelated to the age at onset. Furthermore, when analyzing subgroups of patients with the same allelic composition on both alleles, we failed to observe any correlation with the age at the onset. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. Although the Cox regression coefficient of 0.15 was significant (P < 0.0001), the regression model explained only 28% of the variance of the age at onset related to the effect of the number of CAG repeats within normal allele. Within the groups of patients with the same number of CAG repeats of the mutant allele, number of CAG repeats of the normal allele was found uncorrelated to the age at onset. Furthermore, when analyzing subgroups of patients with the same allelic composition on both alleles, we failed to observe any correlation with the age at the onset. (en)
Title	The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease (en)
skos:prefLabel	The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease (en)
skos:notation	RIV/00064165:_____/11:8930!RIV12-MZ0-00064165
http://linked.open...avai/predkladatel	Všeobecná fakultní nemocnice v Praze
http://linked.open...avai/riv/aktivita	I S Z
http://linked.open...avai/riv/aktivity	I, S, Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Klempíř, Jiří Roth, Jan Kebrdlová, Věra Židovská, 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	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	216738
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/11:8930
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Huntington's disease; CAG triplet; age at onset; trinucleotide repeat; length; gene; mutation; hd; instability; chromosomes; dysfunction; progression; mosaicism (en)
http://linked.open.../riv/klicoveSlovo	chromosomes instability progression dysfunction gene Huntington's disease length mutation CAG triplet age at onset hd mosaicism trinucleotide repeat
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[8E8BE330D710]
http://linked.open...i/riv/nazevZdroje	Movement Disorders
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	26
http://linked.open...iv/tvurceVysledku	Kebrdlová, Věra Klempíř, Jiří Roth, Jan Štochl, Jan Uhrová, Tereza Židovská, Jana
http://linked.open...ain/vavai/riv/wos	000288178400023
http://linked.open...n/vavai/riv/zamer	Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	0885-3185
number of pages	5 (xsd:int)
is http://linked.open...avai/riv/vysledek of	The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease

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