Pages that link to "Q53489453"
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The following pages link to Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. (Q53489453):
Displaying 39 items.
- A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish (Q27301818) (← links)
- A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (Q28505521) (← links)
- Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← links)
- Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. (Q33744396) (← links)
- Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts (Q33834776) (← links)
- Zebrafish models of collagen VI-related myopathies (Q33878282) (← links)
- Col6a1 null mice as a model to study skin phenotypes in patients with collagen VI related myopathies: expression of classical and novel collagen VI variants during wound healing (Q34089837) (← links)
- The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← links)
- Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. (Q34338854) (← 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)
- ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia (Q35689799) (← links)
- Altered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null mice (Q35842479) (← links)
- Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014 (Q35869849) (← links)
- Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies (Q35903229) (← links)
- Novel pathogenic variants and genes for myopathies identified by whole exome sequencing (Q35907744) (← links)
- Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies (Q36153344) (← links)
- Discovery, Synthesis, and Optimization of Diarylisoxazole-3-carboxamides as Potent Inhibitors of the Mitochondrial Permeability Transition Pore. (Q36358813) (← links)
- "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies (Q37157908) (← links)
- Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy (Q37195164) (← links)
- Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (Q37426320) (← links)
- Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives (Q37528083) (← links)
- The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
- siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy (Q37631970) (← links)
- Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy (Q37632993) (← links)
- Cell-matrix interactions in muscle disease (Q37944530) (← links)
- The ever-expanding spectrum of congenital muscular dystrophies (Q38029277) (← links)
- Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975) (← links)
- Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy (Q41191227) (← links)
- Autosomal recessive inheritance of classic Bethlem myopathy (Q41809708) (← links)
- Authentication of collagen VI antibodies (Q42183234) (← links)
- Macrophages: a minimally invasive tool for monitoring collagen VI myopathies (Q44500645) (← links)
- ECM-Related Myopathies and Muscular Dystrophies: Pros and Cons of Protein Therapies (Q45871995) (← links)
- NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. (Q47073612) (← links)
- Serum endotrophin identifies optimal responders to PPARγ agonists in type 2 diabetes. (Q51279076) (← links)
- Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies (Q56987133) (← links)
- A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies (Q64066318) (← links)
- Two closely spaced mutations result in Ullrich congenital muscular dystrophy (Q64085649) (← links)
- Cross-Talk Between Extracellular Matrix and Skeletal Muscle: Implications for Myopathies (Q90410797) (← links)