Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 - sprookjes - yvandenbroek - TriplyDB

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

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

http://www.wikidata.org/entity/Q28210917

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ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2 Intronic microRNA (miRNA)Pharmacological treatment for muscle weakness and wasting in myotonic dystrophy Arginine methylation of the cellular nucleic acid binding protein does not affect its subcellular localization but impedes RNA binding Muscleblind proteins regulate alternative splicing Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10 Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy Myotonic dystrophy protein kinase is critical for nuclear envelope integrity Muscle channelopathies and critical points in functional and genetic studies.Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS The pathobiology of splicing Comparative genomics and molecular dynamics of DNA repeats in eukaryotes Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.Genomic approaches to identifying transcriptional regulators of osteoblast differentiation Length-dependent energetics of (CTG)n and (CAG)n trinucleotide repeats.Advances in mechanisms of genetic instability related to hereditary neurological diseases.Myotonic disorders: A review article Muscle wasting in myotonic dystrophies: a model of premature aging Myotonic dystrophy: is a narrow focus obscuring the rest of the field?Non-coding RNAs in muscle dystrophies Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease The unstable repeats--three evolving faces of neurological disease Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1 Structure of dystrophia myotonica protein kinase NMR spectroscopy and molecular dynamics simulation of r(CCGCUGCGG)₂ reveal a dynamic UU internal loop found in myotonic dystrophy type 1.Utilizing the GAAA Tetraloop/Receptor To Facilitate Crystal Packing and Determination of the Structure of a CUG RNA Helix Myotonic Dystrophy Type 1 RNA Crystal Structures Reveal Heterogeneous 1 × 1 Nucleotide UU Internal Loop Conformations Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Defining potentially conserved RNA regulons of homologous zinc-finger RNA-binding proteins Channelopathies of skeletal muscle excitability Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1 Deregulated microRNAs in myotonic dystrophy type 2 Design of a bioactive small molecule that targets r(AUUCU) repeats in spinocerebellar ataxia 10 Approaches to Validate and Manipulate RNA Targets with Small Molecules in Cells

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

http://www.wikidata.org/entity/Q28210917

description

2001 nî lūn-bûn

@nan

2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2001年の論文

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2001年論文

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2001年論文

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2001年論文

@zh-hk

2001年論文

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2001年論文

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2001年论文

@wuu

name

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

@ast

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

@en

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

@nl

type

label

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

@ast

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

@en

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

@nl

prefLabel

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

@ast

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

@en

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

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SCIENCE.1062125

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

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C L Liquori

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

J F Jacobsen

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J W Day

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K Ricker

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L P Ranum

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

M L Moseley

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S L Naylor

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W Kress

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scholarly article

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10.1126/SCIENCE.1062125

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293

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