About: SURF1 missense mutations promote a mild Leigh phenotype

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About: SURF1 missense mutations promote a mild Leigh phenotype 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	SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare. The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-). The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, normal MRI findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare. The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-). The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, normal MRI findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis (en)
Title	SURF1 missense mutations promote a mild Leigh phenotype SURF1 missense mutations promote a mild Leigh phenotype (en)
skos:prefLabel	SURF1 missense mutations promote a mild Leigh phenotype SURF1 missense mutations promote a mild Leigh phenotype (en)
skos:notation	RIV/00216208:11110/09:4072!RIV10-MSM-11110___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Zeman, Jiří Magner, Martin Veselá, Kateřina
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	344807
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4072
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Leigh syndrome; mild; phenotype; missinse mutations; natural history; SURF1 gene (en)
http://linked.open.../riv/klicoveSlovo	mild Leigh syndrome SURF1 gene natural history phenotype missinse mutations
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[C8551DF34A01]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	14 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	76
http://linked.open...iv/tvurceVysledku	Magner, Martin Zeman, Jiří Veselá, Kateřina Pronicka, E. Pronicki, M. Piekutowska-Abramczuk, D. Bielecka, L. Jurkiewicz, E. Karcmarewicz, E. Kmiec, T. Krajewska-Walasek, M. Popowska, E. Sykut-Cegielska, J. Szymanska-Debinska, T.
http://linked.open...ain/vavai/riv/wos	000270125700012
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0009-9163
number of pages	10 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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