Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. - Wikidata - wikimedia - TriplyDB

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

http://www.wikidata.org/entity/Q36141218

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Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy Roles for retrotransposon insertions in human disease Human transposon tectonics Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy Functional impact of the human mobilome Active human retrotransposons: variation and disease Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy Mobile elements in the human genome: implications for disease Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.Loss of Karma transposon methylation underlies the mantled somaclonal variant of oil palm.Antisense therapy in neurology Vivo-morpholinos induced transient knockdown of physical activity related proteins.Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.Lessons learned from vivo-morpholinos: How to avoid vivo-morpholino toxicity.Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases Disruption of KATP channel expression in skeletal muscle by targeted oligonucleotide delivery promotes activity-linked thermogenesis In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in Duchenne muscular dystrophy mRNA transcript diversity creates new opportunities for pharmacological intervention.Common and Low Frequency Variants in MERTK Are Independently Associated with Multiple Sclerosis Susceptibility with Discordant Association Dependent upon HLA-DRB1*15:01 Status.Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs.Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.Targeting RNA splicing for disease therapy.Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy.Impact of retrotransposons in pluripotent stem cells Splice-switching antisense oligonucleotides as therapeutic drugs Structure and Expression Analyses of SVA Elements in Relation to Functional Genes.Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder.212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.Exon skipping for nonsense mutations in Duchenne muscular dystrophy: too many mutations, too few patients?Pre-mRNA splicing in disease and therapeutics.Repair or replace? Exploiting novel gene and cell therapy strategies for muscular dystrophies.New developments in exon skipping and splice modulation therapies for neuromuscular diseases.Development of therapeutic splice-switching oligonucleotides.Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.

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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

http://www.wikidata.org/entity/Q36141218

description

2011 nî lūn-bûn

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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type

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Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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prefLabel

Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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Pathogenic exon-trapping by SV ...... n Fukuyama muscular dystrophy.

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Atsushi Kuga

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Chih-chieh Yu

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Hasan O Akman

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Hiroki Kurahashi

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Kazuhiro Kobayashi

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Kouhei Mori

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Mariko Taniguchi-Ikeda

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Motoi Kanagawa

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Ryuji Kaji

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Shin'ichi Takeda

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P2860

Initial sequencing and analysis of the human genome

Molecular mechanisms of autosomal recessive hypercholesterolemia

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

The impact of retrotransposons on human genome evolution

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

Mobile elements: drivers of genome evolution

Repbase update: a database and an electronic journal of repetitive elements

Retroposed copies of the HMG genes: a window to genome dynamics.

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Salvatore DiMauro

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