An unstable triplet repeat in a gene related to myotonic muscular dystrophy. - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q34355359

about

Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing Intermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alpha Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.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 MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase Myotonic dystrophy kinase-related Cdc42-binding kinase acts as a Cdc42 effector in promoting cytoskeletal reorganization Myotonic dystrophy protein kinase is critical for nuclear envelope integrity Functional analysis of the homeodomain protein SIX5.Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 The p160 RhoA-binding kinase ROK alpha is a member of a kinase family and is involved in the reorganization of the cytoskeleton 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.TRDB--the Tandem Repeats Database HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.Human induced pluripotent stem cells for monogenic disease modelling and therapy A journey in bioinspired supramolecular chemistry: from molecular tweezers to small molecules that target myotonic dystrophy Epigenetics and Triplet-Repeat Neurological Diseases Non-coding RNAs in muscle dystrophies The unstable repeats--three evolving faces of neurological disease Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Molecular genetics and genetic testing in myotonic dystrophy type 1.Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1 New 5'-(CGG)n-3' repeats in the human genome MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1 Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy Skeletal muscle Na currents in mice heterozygous for Six5 deficiency 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 Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase Deregulated microRNAs in myotonic dystrophy type 2 Rho-associated kinase, a novel serine/threonine kinase, as a putative target for small GTP binding protein Rho Disease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase Cβ Phospholemman is a substrate for myotonic dystrophy protein kinase.

P2860

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P2860

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

http://www.wikidata.org/entity/Q34355359

description

1992 nî lūn-bûn

@nan

1992 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի մարտին հրատարակված գիտական հոդված

@hy

1992年の論文

@ja

1992年論文

@yue

1992年論文

@zh-hant

1992年論文

@zh-hk

1992年論文

@zh-mo

1992年論文

@zh-tw

1992年论文

@wuu

name

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

@ast

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

@en

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

@nl

type

label

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

@ast

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

@en

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

@nl

prefLabel

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

@ast

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

@en

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

@nl

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SCIENCE.1546326

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P1476

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

@en

P2093

Ashizawa T

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

Dubel J

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Dunne PW

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Fenwick RG Jr

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Fu YH

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King J

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Nasser GA

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Pizzuti A

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Rajnarayan S

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de Jong P

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1256-1258

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scholarly article

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10.1126/SCIENCE.1546326

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5049

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255

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1992-03-01T00:00:00Z

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21610052

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1546326

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