Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts - Test2 - elhamkhani - TriplyDB

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

http://www.wikidata.org/entity/Q28585557

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Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy Molecular basis for impaired muscle differentiation in myotonic dystrophy HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.Muscle wasting in myotonic dystrophies: a model of premature aging Expression of evolutionarily conserved eye specification genes during Drosophila embryogenesis Skeletal muscle Na currents in mice heterozygous for Six5 deficiency The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease Six4, a putative myogenin gene regulator, is not essential for mouse embryonal development.Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy.Cat-Map: putting cataract on the map Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation.Dystrophia myotonia: why focus on foci?Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility.Myotonic dystrophy: RNA pathogenesis comes into focus.Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells Neurodegeneration the RNA way Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.Epigenetics in nucleotide repeat expansion disorders.Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy.Pluralistic and stochastic gene regulation: examples, models and consistent theory.RNA-mediated toxicity in neurodegenerative disease Sine oculis, a member of the SIX family of transcription factors, directs eye formation Novel dominant-negative mutation within the six domain of the conserved eye specification gene sine oculis inhibits eye development in Drosophila.A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in a Drosophila Model of Myotonic Dystrophy.Myotonic dystrophy mouse models: towards rational therapy development.The lens in focus: a comparison of lens development in Drosophila and vertebrates.Epigenetic changes and non-coding expanded repeats.Repeat expansion disease: progress and puzzles in disease pathogenesis Perspectives on gene therapy in myotonic dystrophy type 1.Molecular mechanisms in DM1 - a focus on foci.Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts.Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy.Environmental suppression of Neurospora crassa cot-1 hyperbranching: a link between COT1 kinase and stress sensing.Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from DMPK knockout mice.250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1.Myotonic dystrophy type 1: frequency of ophthalmologic findings.Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.

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P2860

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

http://www.wikidata.org/entity/Q28585557

description

2000 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի մայիսին հրատարակված գիտական հոդված

@hy

articolo scientifico

@it

artículu científicu espublizáu en 2000

@ast

im Mai 2000 veröffentlichter wissenschaftlicher Artikel

@de

scientific journal article

@en

vedecký článok (publikovaný 2000/05/01)

@sk

vědecký článek publikovaný v roce 2000

@cs

wetenschappelijk artikel (gepubliceerd op 2000/05/01)

@nl

наукова стаття, опублікована в травні 2000

@uk

name

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@ast

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@en

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@nl

type

label

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@ast

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@en

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@nl

prefLabel

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@ast

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@en

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@nl

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Nature Genetics

P1476

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

@en

P2093

B. Appukuttan

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

C. Ai

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

J. Han

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

J. T. Stout

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

P. S. Sarkar

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

S. Reddy

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

W. Tsai

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

Y. Chai

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

Y. Ito

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

P2860

Somatic mutations in the neurofibromatosis 1 gene in human tumors

Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya

Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport

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

Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy

Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene

Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model.

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

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.

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110–114

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4332417

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10.1038/75500

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1

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25

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2000-05-01T00:00:00Z

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12514455

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10802668

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Sine oculis-related homeobox 5