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1. Full Text Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators
by Sward, Karl and Krawczyk, Katarzyna K and Moren, Bjorn and Zhu, Baoyi and Matic, Ljubica and Holmberg, Johan and Hedin, Ulf and Uvelius, Bengt and Stenkula, Karin and Rippe, Catarina
American Journal of Physiology: Cell Physiology, ISSN 0363-6143, 12/2019, Volume 317, Issue 6, pp. C1128 - C1142
Physiology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Serum Response Factor - genetics | Vimentin - metabolism | Humans | Actins - metabolism | Myosin Heavy Chains - genetics | CD146 Antigen - genetics | Myosin Heavy Chains - metabolism | Actins - genetics | Coronary Vessels - metabolism | Proto-Oncogene Protein c-fli-1 - metabolism | Vimentin - genetics | Intermediate Filament Proteins - genetics | Trans-Activators - genetics | Urinary Bladder - cytology | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Cofilin 2 - genetics | Myocytes, Smooth Muscle - drug effects | Nuclear Proteins - genetics | Thiazolidines - pharmacology | Microfilament Proteins - genetics | Myocytes, Smooth Muscle - cytology | Myocytes, Smooth Muscle - metabolism | Cell Line | Coronary Vessels - drug effects | Proto-Oncogene Protein c-fli-1 - genetics | Signal Transduction | Urinary Bladder - metabolism | Membrane Proteins - genetics | Serum Response Factor - metabolism | Gene Expression Regulation | Nuclear Proteins - metabolism | Transcription Factors - genetics | Cofilin 2 - metabolism | Transcription Factors - metabolism | Bridged Bicyclo Compounds, Heterocyclic - pharmacology | Animals | CD146 Antigen - metabolism | Coronary Vessels - cytology | Desmin - metabolism | Desmin - genetics | Trans-Activators - metabolism | Urinary Bladder - drug effects | Mice | Primary Cell Culture | Intermediate Filament Proteins - metabolism | Vimentin | Transcription factors | Intermediate filaments | Smooth muscle | Embryo fibroblasts | Cell differentiation | Embryos | Desmin | Proteins | Ternary complex factor | Filaments | Actin | Myosin | Cofilin | Serum response factor | Index Medicus | Basic Medicine | Medical and Health Sciences | Phenotypic modulation | Medicin och hälsovetenskap | Actin dynamics | CFL2 | Medicinska och farmaceutiska grundvetenskaper | Cell and Molecular Biology | DSTN | Lineage markers | Cell- och molekylärbiologi
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2. Full Text Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
by Mack, David L and Poulard, Karine and Goddard, Melissa A and Latournerie, Virginie and Snyder, Jessica M and Grange, Robert W and Elverman, Matthew R and Denard, Jérôme and Veron, Philippe and Buscara, Laurine and Le Bec, Christine and Hogrel, Jean-Yves and Brezovec, Annie G and Meng, Hui and Yang, Lin and Liu, Fujun and O’Callaghan, Michael and Gopal, Nikhil and Kelly, Valerie E and Smith, Barbara K and Strande, Jennifer L and Mavilio, Fulvio and Beggs, Alan H and Mingozzi, Federico and Lawlor, Michael W and Buj-Bello, Ana and Childers, Martin K
Molecular therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 839 - 854
myotubularin | centronuclear | neuromuscular | myotubular | myopathy | muscle | gene therapy | adeno-associated virus | canine | pediatric | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dependovirus - genetics | Gait | Genetic Vectors - administration & dosage | Genetic Vectors - adverse effects | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Recovery of Function | Tissue Distribution | Immunity, Humoral | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Muscle Strength | Disease Models, Animal | Reflex | Gene Expression | Transgenes - genetics | Kaplan-Meier Estimate | Muscle, Skeletal - ultrastructure | Treatment Outcome | Dependovirus - classification | Disease Progression | Genetic Vectors - genetics | Animals | Biopsy | Muscle, Skeletal - physiopathology | Dogs | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - mortality | Muscle, Skeletal - pathology | Respiratory Function Tests | Genetic Vectors - pharmacokinetics | Transgenes - immunology | Immunity, Cellular | Genetic Therapy - adverse effects | Genetic Therapy - methods | Animal models | Respiratory function | MTM1 gene | Animal euthanasia | Immune response | Disease | Clinical trials | Grants | Males | Desmin | Muscular dystrophy | Pathology | Genotype & phenotype | Musculoskeletal system | Walking | Ostomy | Life span | Trends | Mutation | Gene therapy | Age | Myopathy | Index Medicus | Life Sciences | Original
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3. Full Text Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases
by Bekers, E.M and Groenen, P.J.T.A and Verdijk, M.A.J and Raaijmakers-van Geloof, W.L and Roepman, P and Vink, R and Gilhuijs, N.D and Gorp, J.M. van and Bovee, J.V and Creytens, D.H and Flanagan, A.M and Suurmeijer, A.J and Mentzel, T and Arbajian, E and Flucke, U.E
Genes chromosomes & cancer, ISSN 1045-2257, 2017, Volume 56, Issue 10, pp. 750 - 757
Oncology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Antigens, CD34 - metabolism | Basic Helix-Loop-Helix Transcription Factors - genetics | Genes, abl - genetics | Humans | Middle Aged | Repressor Proteins - genetics | Male | Nuclear Receptor Coactivator 2 - metabolism | STAT6 Transcription Factor - genetics | STAT6 Transcription Factor - metabolism | Guanine Nucleotide-Releasing Factor 2 - genetics | Angiofibroma - genetics | Angiofibroma - pathology | Adolescent | Soft Tissue Neoplasms - pathology | Adult | Female | Aged | Oncogene Fusion - genetics | Antigens, CD34 - genetics | Child | Nuclear Receptor Coactivator 2 - genetics | Soft Tissue Neoplasms - genetics | Immunohistochemistry | Viral antibodies | RNA sequencing | Antibodies | RNA | Analysis | CD34 antigen | Transcription | Cell fusion | Gene expression | Males | Ribonucleic acid--RNA | Desmin | Neoplasms | Gene sequencing | Polymerase chain reaction | Stat6 protein | Diagnostic systems | Lesions | Fusion protein | Females | Extremities | Tumors | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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4. Full Text Desmin-related myopathy
by van Spaendonck-Zwarts, K. Y and van Hessem, L and Jongbloed, J. D. H and de Walle, H. E. K and Capetanaki, Y and van der Kooi, A. J and van Langen, I. M and van den Berg, M. P and van Tintelen, J. P
Clinical genetics, ISSN 0009-9163, 2011, Volume 80, Issue 4, pp. 354 - 366
mutation | desmin | cardiomyopathy | cardiac‐phenotype | myopathy | Mutation | Cardiomyopathy | Desmin | Cardiac-phenotype | Myopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Myocarditis. Cardiomyopathies | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Association Studies | Humans | Inheritance Patterns | Muscular Diseases - diagnosis | Cardiomyopathies - genetics | Cardiomyopathies - diagnosis | Desmin - genetics | Heterozygote | Arrhythmias, Cardiac - diagnosis | Muscular Diseases - genetics | Muscular Diseases - therapy | Arrhythmias, Cardiac - genetics | Medical colleges | Tachycardia | Genetic disorders | Molecular genetics | Creatine kinase | Analysis | Digital rights (Intellectual property) | Creatine | Cardiovascular system | Skeletal system | Genes | Index Medicus | Conduction | Arrhythmia | tachyarrhythmia | Heredity | Literature reviews | Missense mutation | Pacemakers | DRM protein | Heart diseases | Age
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5. Full Text The t(1;10)(p22;q24) TGFBR3/MGEA5 translocation in pleomorphic hyalinizing angiectatic tumor, myxoinflammatory fibroblastic sarcoma, and hemosiderotic fibrolipomatous tumor
by Liu, Huifei and Liu, Huifei and Sukov, William R and Sukov, William R and Ro, Jae Y and Ro, Jae Y
Archives of pathology & laboratory medicine (1976), ISSN 0003-9985, 02/2019, Volume 143, Issue 2, pp. 212 - 221
Pathology | Life Sciences & Biomedicine | Medical Laboratory Technology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Antigens, Neoplasm - genetics | Translocation, Genetic | Receptors, Transforming Growth Factor beta - genetics | Humans | Middle Aged | Histone Acetyltransferases - genetics | Male | Gene Rearrangement | Soft Tissue Neoplasms - pathology | Aged, 80 and over | Adult | Female | Aged | Chromosomes, Human, Pair 10 - genetics | Chromosomes, Human, Pair 1 - genetics | Hyaluronoglucosaminidase - genetics | Proteoglycans - genetics | Soft Tissue Neoplasms - genetics | Genetic aspects | Diagnosis | Sarcoma | Translocation (Genetics) | Identification and classification | Vimentin | Carcinoma | Transcription | Smooth muscle | Metastasis | Hemorrhage | Metastases | Angiogenesis | Calponin | S100 protein | Actin | Tumorigenesis | Growth factors | Chromosomes | Lysozyme | CD34 antigen | Antigens | Enzymes | Gene expression | Chromosome 3 | Desmin | Heterozygosity | Tumor suppressor genes | Cancer | Tumors | Index Medicus | Abridged Index Medicus
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6. Full Text Costamere proteins and their involvement in myopathic processes
by Jaka, Oihane and Casas-Fraile, Leire and López de Munain, Adolfo and Sáenz, Amets
Expert reviews in molecular medicine, ISSN 1462-3994, 2015, Volume 17, pp. e12 - e12
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Plectin - genetics | Sarcolemma - genetics | Talin - chemistry | Humans | Plectin - metabolism | Integrins - chemistry | Vinculin - metabolism | Dystroglycans - metabolism | Integrins - genetics | Integrins - metabolism | Dystrophin-Associated Proteins - genetics | Dystrophin-Associated Proteins - metabolism | Talin - genetics | Dystrophin-Associated Proteins - chemistry | Sarcomeres - genetics | Dystroglycans - chemistry | Dystrophin - metabolism | Sarcolemma - metabolism | Gene Expression | Costameres - genetics | Muscular Diseases - metabolism | Sarcomeres - metabolism | Desmin - chemistry | Muscular Diseases - pathology | Dystrophin - chemistry | Talin - metabolism | Vinculin - chemistry | Sarcomeres - ultrastructure | Plectin - chemistry | Muscle Contraction | Vinculin - genetics | Dystrophin - genetics | Desmin - metabolism | Costameres - metabolism | Sarcolemma - ultrastructure | Desmin - genetics | Dystroglycans - genetics | Muscular Diseases - genetics | Mutation | Costameres - ultrastructure | Index Medicus
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