About: Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy

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About: Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy 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	Development of the pathological phenotype in patients with myotonic dystrophy (MD1) largely depends on toxic effects of expanded DMPK gene repeats (CUG(exp)) transcription and their interaction with binding proteins. The relationship between DMPK CUG(exp), MBNL1 and MBNL2 has so far been studied on tissue cultures (myoblast cell lines) and transgenic animals. In this report, the first in situ molecular genetic analysis of fetal tissue from a family affected by MD1 is presented. Intrauterine development, maturation and differentiation of skeletal muscles of the fetus (360 g, 22nd week of pregnancy) were only slightly delayed. In the fetus, paternally inherited expansion of the CTG repeat in the DMPK gene (350 CTG) was confirmed by molecular analysis. Development of the pathological phenotype in patients with myotonic dystrophy (MD1) largely depends on toxic effects of expanded DMPK gene repeats (CUG(exp)) transcription and their interaction with binding proteins. The relationship between DMPK CUG(exp), MBNL1 and MBNL2 has so far been studied on tissue cultures (myoblast cell lines) and transgenic animals. In this report, the first in situ molecular genetic analysis of fetal tissue from a family affected by MD1 is presented. Intrauterine development, maturation and differentiation of skeletal muscles of the fetus (360 g, 22nd week of pregnancy) were only slightly delayed. In the fetus, paternally inherited expansion of the CTG repeat in the DMPK gene (350 CTG) was confirmed by molecular analysis. (en)
Title	Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy (en)
skos:prefLabel	Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy Molecular Genetic Analysis of Fetal Tissues from a Family Affected by Myotonic Dystrophy (en)
skos:notation	RIV/68081707:_____/12:00389807!RIV13-AV0-68081707
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(EE2.3.30.0030), P(GAP302/10/1022), P(GBP302/12/G157), P(IAA500040802), P(LD12039), Z(AV0Z50040702)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Falk, Martin
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	Biofyzikální ústav AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	151541
http://linked.open...ai/riv/idVysledku	RIV/68081707:_____/12:00389807
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	myotonic dystrophy; DMPK mutation; fetal tissue (en)
http://linked.open.../riv/klicoveSlovo	myotonic dystrophy DMPK mutation fetal tissue
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[4A99FAA60A1B]
http://linked.open...i/riv/nazevZdroje	Česká a Slovenská neurologie a neurochirurgie
http://linked.open...in/vavai/riv/obor	BO
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	New mechanisms of oncoprotein action in genesis of promyelocytic leukemia Dynamics and Organization of Chromosomes in the Cell Cycle and during Differentiation under Normal and Pathological Conditions Chromatin dynamics during DNA repair Development of human resources in the field of cell biology The influence of higher-order chromatin structure on the mechanism of DNA double-strand break (DSB) repair and formation of chromosomal translocations in cells irradiated with gamma rays and medically relevant ion beams
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	75
http://linked.open...iv/tvurceVysledku	Falk, Martin Fajkusová, L. Falková, I. Feit, J. Lukáš, Z. Valášková, I. Zítková, J.
http://linked.open...ain/vavai/riv/wos	000311242700009
http://linked.open...n/vavai/riv/zamer	Genome and epigenome: 1D and 3D Structure, Dynamics, Interactions with Proteins and Functions
issn	1210-7859
number of pages	7 (xsd:int)

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