Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. - Wikidata - wikimedia - TriplyDB

Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

http://www.wikidata.org/entity/Q34358301

about

Muscle wasting in myotonic dystrophies: a model of premature aging Yeast Gis2 and its human ortholog CNBP are novel components of stress-induced RNP granules.Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes.Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.Small molecules that target the toxic RNA in myotonic dystrophy type 2.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2 RNA-binding protein misregulation in microsatellite expansion disorders Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD Epigenetics in nucleotide repeat expansion disorders.Molecular mechanisms of muscle atrophy in myotonic dystrophies.Myotonic dystrophy mouse models: towards rational therapy development.Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2.Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies.Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Myotonic dystrophy: approach to therapy.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Zinc Metabolism and Metallothioneins.

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Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.

http://www.wikidata.org/entity/Q34358301

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Mutant (CCTG)n expansion cause ...... in myotonic dystrophy type 2.

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Mutant (CCTG)n expansion cause ...... in myotonic dystrophy type 2.

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type

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Mutant (CCTG)n expansion cause ...... in myotonic dystrophy type 2.

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Mutant (CCTG)n expansion cause ...... in myotonic dystrophy type 2.

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Mutant (CCTG)n expansion cause ...... in myotonic dystrophy type 2.

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AJPATH.2010.100179

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The American Journal of Pathology

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Mutant (CCTG)n expansion cause ...... in myotonic dystrophy type 2.

@en

P2093

Anna Vihola

http://www.w3.org/2001/XMLSchema#string

Bjarne Udd

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Hannu Haapasalo

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Jeanette Holmlund-Hampf

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Linda L Bachinski

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Mario Sirito

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Olayinka Raheem

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Ralf Krahe

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Shodimu-Emmanuel Olufemi

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Yi-Ping Li

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P2860

Identification of a zinc finger protein that binds to the sterol regulatory element

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

Mouse cellular nucleic acid binding proteins: a highly conserved family identified by genetic mapping and sequencing

Cloning and characterization of rat cellular nucleic acid binding protein (CNBP) cDNA

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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3025-3036

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