About: Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population

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About: Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population 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)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Identifikovali jsme jedenáct nových mutací v genu pro alfa-galaktosidázu A v šestnácti českých a slovenských rodinách s výskytem Fabryho choroby (X-vázané onemocnění). Navrhli jsme skórovací systém založený na symptomech a laboratorních měřeních. Porovnali jsme stupeň X-inaktivace se skóre heterozygotů. Výsledky ukazují na silný vliv. Trend skóre v závislosti na věku u žen s X-inaktivací směrem k chromozomu s nemutovanou alelou byl prudší než trend ve zbytku kohorty. (cs) Eleven novel alpha-galactosidase A gene mutations were identified in sixteen Czech and Slovak families with Fabry disease (X-linked recessive). We designed a scoring scheme based on symptoms and laboratory parameters. We compared the degree of X-inactivation with score values of heterozygotes. Results indicate strong influence. The age-score trendline in female Fabry patients with X-inactivation skewed towards chromosome carrying wildtype allele was steeper than the trendline based on the rest of our cohort. Eleven novel alpha-galactosidase A gene mutations were identified in sixteen Czech and Slovak families with Fabry disease (X-linked recessive). We designed a scoring scheme based on symptoms and laboratory parameters. We compared the degree of X-inactivation with score values of heterozygotes. Results indicate strong influence. The age-score trendline in female Fabry patients with X-inactivation skewed towards chromosome carrying wildtype allele was steeper than the trendline based on the rest of our cohort. (en)
Title	Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population (en) Vztah mezi x-aktivací a klinickými projevy u heterozygotů s Fabryho poruchou. Identifikace jedenácti nových mutací v GLA genu (cs)
skos:prefLabel	Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population Relationship between X-inactivation and Clinical Involvement in Fabry Heterozygotes. Eleven Novel Mutations in the alpha-galactosidase A Gene in the Czech and Slovak Population (en) Vztah mezi x-aktivací a klinickými projevy u heterozygotů s Fabryho poruchou. Identifikace jedenácti nových mutací v GLA genu (cs)
skos:notation	RIV/67985807:_____/05:00031795!RIV06-MZ0-67985807
http://linked.open.../vavai/riv/strany	647;654
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NE5770), Z(MSM 111100003), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	-
http://linked.open...vai/riv/dodaniDat	2006
http://linked.open...aciTvurceVysledku	Pavlíková, Markéta
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	Ústav informatiky AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	540656
http://linked.open...ai/riv/idVysledku	RIV/67985807:_____/05:00031795
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Fabry disease; X-inactivation; mutation; score (en)
http://linked.open.../riv/klicoveSlovo	X-inactivation score mutation Fabry disease
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[507B156A4433]
http://linked.open...i/riv/nazevZdroje	Journal of Molecular Medicine-Jmm
http://linked.open...in/vavai/riv/obor	BA
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Fabry disease and X.-linked adrenoleucodystrophy: mutation analysis of alpha-galactosidase A and ALD-protein genes in the Czech patiens.
http://linked.open...UplatneniVysledku	2005
http://linked.open...v/svazekPeriodika	83
http://linked.open...iv/tvurceVysledku	Dvořáková, L. Hřebíček, M. Pavlíková, Markéta Ledvinová, J. Elleder, M. Magage, S. Bultas, J. Dobrovolný, R. Karetova, D. Lubanda, J. C.
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů http://linked.opendata.cz/resource/domain/vavai/zamer/MSM%20111100003
issn	0946-2716
number of pages	8 (xsd:int)

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