About: Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

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About: Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency 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
rdfs:seeAlso	http://dx.doi.org/10.1016/j.gene.2012.02.004
Description	The article characterizes the impacts of a novel frame shift mutation in LAMP2 gene on protein sorting and stability and correlates these findings with Danon disease phenotype in the studied family. The benefits of use of peripheral white blood cells in the diagnostic protocol of Danon disease in female heterozygotes by flow cytometry are unambiguously demostrated. In addition, it is presented that LAMP2 deficit in CD8+ T lymphocytes does not alter lytic granules exocytosis. The article characterizes the impacts of a novel frame shift mutation in LAMP2 gene on protein sorting and stability and correlates these findings with Danon disease phenotype in the studied family. The benefits of use of peripheral white blood cells in the diagnostic protocol of Danon disease in female heterozygotes by flow cytometry are unambiguously demostrated. In addition, it is presented that LAMP2 deficit in CD8+ T lymphocytes does not alter lytic granules exocytosis. (en)
Title	Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency (en)
skos:prefLabel	Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency (en)
skos:notation	RIV/00216208:11110/12:12928!RIV13-MZ0-11110___
http://linked.open...avai/predkladatel	1. lékařská fakulta
http://linked.open...avai/riv/aktivita	I P V Z
http://linked.open...avai/riv/aktivity	I, P(NS10342), P(NS9996), V, Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Elleder, Milan Dvořáková, Lenka Vlášková, Hana Stolnaja, Larisa Sikora, Jakub Majer, Filip
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	129558
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/12:12928
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Danon disease; Lysosomal-associated membrane protein 2; Cardiomyopathy; White blood cells; Polychromatic flow cytometry; X-chromosome inactivation (en)
http://linked.open.../riv/klicoveSlovo	Danon disease Lysosomal-associated membrane protein 2 Polychromatic flow cytometry White blood cells X-chromosome inactivation Cardiomyopathy
http://linked.open...odStatuVydavatele	NL - Nizozemsko
http://linked.open...ontrolniKodProRIV	[C2609A486467]
http://linked.open...i/riv/nazevZdroje	Gene
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...vavai/riv/projekt	CMV specific immune reconstitution after allogeneic hematopoietic stem cell transplantation Biochemistry and Cell Biology of Human Acetyl-Coenzyme A: Alpha-Glucosaminide N-Acetyltransferase – Basis for Future Therapeutic Applications in Mucopolysaccharidosis type IIIC
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	498
http://linked.open...iv/tvurceVysledku	Elleder, Milan Kalina, Tomáš Dvořáková, Lenka Vlášková, Hana Krol, Ladislav Kubánek, Miroslav Majer, Filip Sikora, Jakub Stolnaja, Larisa
http://linked.open...ain/vavai/riv/wos	000302888700007
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0378-1119
number of pages	13 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

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