Pages that link to "Q35290709"

The following pages link to ColVI myopathies: where do we stand, where do we go? (Q35290709):

Displaying 39 items.

• Extended interaction network of procollagen C-proteinase enhancer-1 in the extracellular matrix (Q24338239) ‎ (← links)
• Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators (Q28271052) ‎ (← links)
• A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (Q28505521) ‎ (← links)
• A structure of a collagen VI VWA domain displays N and C termini at opposite sides of the protein. (Q30356723) ‎ (← links)
• Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts (Q33834776) ‎ (← links)
• Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies (Q34266732) ‎ (← links)
• Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report (Q34759706) ‎ (← links)
• Correlated mRNAs and miRNAs from co-expression and regulatory networks affect porcine muscle and finally meat properties (Q34894895) ‎ (← links)
• Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets (Q35040061) ‎ (← links)
• Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain (Q35080325) ‎ (← links)
• Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia (Q35689799) ‎ (← links)
• A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy (Q36383108) ‎ (← links)
• Extracellular matrix remodeling: the common denominator in connective tissue diseases. Possibilities for evaluation and current understanding of the matrix as more than a passive architecture, but a key player in tissue failure (Q36672445) ‎ (← links)
• COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy (Q36850304) ‎ (← links)
• Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy (Q36856928) ‎ (← links)
• Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever (Q36975280) ‎ (← links)
• "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies (Q37157908) ‎ (← links)
• 212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015. (Q37555754) ‎ (← links)
• Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy (Q37584302) ‎ (← links)
• "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders (Q37610585) ‎ (← links)
• siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy (Q37631970) ‎ (← links)
• Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. (Q37685735) ‎ (← links)
• Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). (Q38221009) ‎ (← links)
• Transverse tubule remodelling: a cellular pathology driven by both sides of the plasmalemma? (Q38684811) ‎ (← links)
• Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant (Q39755887) ‎ (← links)
• Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis (Q40121511) ‎ (← links)
• Two novel COLVI long chains in zebrafish that are essential for muscle development. (Q40547943) ‎ (← links)
• Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy (Q41191227) ‎ (← links)
• Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy (Q42412623) ‎ (← links)
• Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy (Q44996024) ‎ (← links)
• Dermal ultrastructure in collagen VI myopathy (Q45734482) ‎ (← links)
• ECM-Related Myopathies and Muscular Dystrophies: Pros and Cons of Protein Therapies (Q45871995) ‎ (← links)
• Increased collagen within the transverse tubules in human heart failure. (Q53113346) ‎ (← links)
• Attenuation of autophagy impacts on muscle fibre development, starvation induced stress and fibre regeneration following acute injury. (Q55309450) ‎ (← links)
• A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies (Q64066318) ‎ (← links)
• Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres (Q64103104) ‎ (← links)
• Mechanisms underpinning the permanent muscle damage induced by snake venom metalloprotease (Q64234629) ‎ (← links)
• Cross-Talk Between Extracellular Matrix and Skeletal Muscle: Implications for Myopathies (Q90410797) ‎ (← links)
• Aberrant Expression of Collagen Gene Family in the Brain Regions of Male Mice with Behavioral Psychopathologies Induced by Chronic Agonistic Interactions (Q92646728) ‎ (← links)