RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy - Test2 - elhamkhani - TriplyDB

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

http://www.wikidata.org/entity/Q29036117

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2 Noncoding RNAs: emerging players in muscular dystrophies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy A unifying genetic model for facioscapulohumeral muscular dystrophy Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Facioscapulohumeral Dystrophy.Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats.Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.Regulated post-transcriptional RNA cleavage diversifies the eukaryotic transcriptome.FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis)Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome.A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.Testing the effects of FSHD candidate gene expression in vertebrate muscle development.DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns Gene expression during normal and FSHD myogenesis.Distinct epigenomic features in end-stage failing human hearts The FSHD atrophic myotube phenotype is caused by DUX4 expression.DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis.Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.FSHD myotubes with different phenotypes exhibit distinct proteomes.Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells Variation in array size, monomer composition and expression of the macrosatellite DXZ4 Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

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P2860

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

http://www.wikidata.org/entity/Q29036117

description

2009 nî lūn-bûn

@nan

2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2009年の論文

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2009年論文

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2009年論文

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2009年論文

@zh-hk

2009年論文

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2009年論文

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2009年论文

@wuu

name

RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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type

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RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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Human Molecular Genetics

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RNA transcripts, miRNA-sized f ...... facioscapulohumeral dystrophy

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Amy Asawachaicharn

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Ashlee E Tyler

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Galina N Filippova

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Lauren Snider

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Linda N Geng

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Lisa M Petek

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Lisa Maves

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Rabi Tawil

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Richard J L F Lemmers

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Sara T Winokur

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P2860

Unanticipated antigens: translation initiation at CUG with leucine

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

A second look at cellular mRNA sequences said to function as internal ribosome entry sites

Pseudogene-derived small interfering RNAs regulate gene expression in mouse oocytes

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

Demonstrating internal ribosome entry sites in eukaryotic mRNAs using stringent RNA test procedures

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Discrete small RNA-generating loci as master regulators of transposon activity in Drosophila

Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes

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2414-2430

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scholarly article

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2577436

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10.1093/HMG/DDP180

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13

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18

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Daniel G. Miller

Silvère M van der Maarel

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2009-04-09T00:00:00Z

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24270876

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19359275

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pathophysiology

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2694690

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