New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. - Wikidata - wikimedia - TriplyDB

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

http://www.wikidata.org/entity/Q33905203

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Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies Collagen VI related muscle disorders A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy Congenital muscular dystrophies: a brief review The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Diagnostic approach to the congenital muscular dystrophies.Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.Zebrafish models of collagen VI-related myopathies The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.Therapy of collagen VI-related myopathies (Bethlem and Ullrich).From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.ColVI myopathies: where do we stand, where do we go?Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies A mutant dec-1 transgene induces dominant female sterility in Drosophila melanogaster.The congenital muscular dystrophies: recent advances and molecular insights.COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.Flow cytometry analysis: a quantitative method for collagen VI deficiency screening Developmental and osteoarthritic changes in Col6a1-knockout mice: biomechanics of type VI collagen in the cartilage pericellular matrix.Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Natural history of pulmonary function in collagen VI-related myopathies Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.The collagen VI-related myopathies: muscle meets its matrix.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.Early onset collagen VI myopathies: Genetic and clinical correlations.

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P2860

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

http://www.wikidata.org/entity/Q33905203

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2003 nî lūn-bûn

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2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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New molecular mechanism for Ul ...... ene causes a severe phenotype.

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New molecular mechanism for Ul ...... ene causes a severe phenotype.

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New molecular mechanism for Ul ...... ene causes a severe phenotype.

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New molecular mechanism for Ul ...... ene causes a severe phenotype.

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New molecular mechanism for Ul ...... ene causes a severe phenotype.

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American Journal of Human Genetics

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New molecular mechanism for Ul ...... ene causes a severe phenotype.

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P2093

Carsten G Bönnemann

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Dominick G Sudano

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Mon-Li Chu

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Rui-Zhu Zhang

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Te-Cheng Pan

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P2860

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy termi

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

Characterisation of a novel minisatellite that provides multiple splice donor sites in an interferon-induced transcript

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

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355-369

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10.1086/377107

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2

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10678197

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12840783

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Ullrich congenital muscular dystrophy

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1180372

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