Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. - Wikidata - wikimedia - TriplyDB

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

http://www.wikidata.org/entity/Q36235446

about

A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy Muscleblind proteins regulate alternative splicing Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1 MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy Myotonic dystrophy protein kinase is critical for nuclear envelope integrity The fragile-X premutation: a maturing perspective.Molecular basis for impaired muscle differentiation in myotonic dystrophy In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts Comparative genomics and molecular dynamics of DNA repeats in eukaryotes Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Myotonic dystrophy: is a narrow focus obscuring the rest of the field?The unstable repeats--three evolving faces of neurological disease Structural insights into CUG repeats containing the 'stretched U-U wobble': implications for myotonic dystrophy Structural dynamics of double-helical RNAs composed of CUG/CUG- and CUG/CGG-repeats Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.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 MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells Studying a Drug-like, RNA-Focused Small Molecule Library Identifies Compounds That Inhibit RNA Toxicity in Myotonic Dystrophy RNA phase transitions in repeat expansion disorders.Disease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase Cβ TWEAK Regulates Muscle Functions in a Mouse Model of RNA Toxicity.TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts.Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features.Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.

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P2860

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

http://www.wikidata.org/entity/Q36235446

description

1995 nî lūn-bûn

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1995年の論文

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年学术文章

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1995年學術文章

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1995年學術文章

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1995年學術文章

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name

Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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type

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Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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Foci of trinucleotide repeat t ...... c dystrophy cells and tissues.

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D Housman

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K L Taneja

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M McCurrach

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M Schalling

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R H Singer

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P2860

Progression of the cell cycle through mitosis leads to abortion of nascent transcripts

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

Factor required for mammalian spliceosome assembly is localized to discrete regions in the nucleus

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

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

Dynamic mutations: a new class of mutations causing human disease.

Three-dimensional molecular distribution in single cells analysed using the digital imaging microscope.

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995-1002

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6

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