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1. Full Text Dysfunction of the CNS-Heart Axis in Mouse Models of Huntington's Disease
by Mielcarek, Michal and Inuabasi, Linda and Bondulich, Marie K and Muller, Thomas and Osborne, Georgina F and Franklin, Sophie A and Smith, Donna L and Neueder, Andreas and Rosinski, Jim and Rattray, Ivan and Protti, Andrea and Bates, Gillian P
PLoS Genetics, ISSN 1553-7390, 08/2014, Volume 10, Issue 8, pp. e1004550 - e1004550
Cardiac remodelling and contractile dysfunction occur during both acute and chronic disease processes including the accumulation of insoluble aggregates of... 
ARRHYTHMIAS | GAP-JUNCTIONS | PROTEIN | MYOCARDIAL-INFARCTION | DESMIN-RELATED CARDIOMYOPATHY | CARDIAC MYOCYTES | GENETICS & HEREDITY | GENE-EXPRESSION | POLYGLUTAMINE INCLUSIONS | BRAIN | TRANSGENIC MICE | Cardiomyopathy, Dilated - genetics | Cardiomyopathy, Dilated - pathology | Humans | Heart Failure - genetics | Heart Failure - pathology | Nerve Tissue Proteins - genetics | Huntingtin Protein | Myocardial Contraction - genetics | Ventricular Remodeling | Animals | Nuclear Proteins - biosynthesis | Nerve Tissue Proteins - biosynthesis | Huntington Disease - genetics | Mice | Nuclear Proteins - genetics | Huntington Disease - physiopathology | Connexin 43 - genetics | Disease Models, Animal | Heart failure | Care and treatment | Huntington's chorea | Central nervous system | Genetic engineering | Genetic aspects | Research | Risk factors | Index Medicus | Huntingtons disease | Biomedical research | Ontology | Cardiomyopathy | Cardiomyocytes | Pictographs | Data bases | Proteins | Studies | Pathology | Brain research | Annotations | Neurodegeneration | Rodents | Bioinformatics
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2. Full Text The NADPH Metabolic Network Regulates Human αB-crystallin Cardiomyopathy and Reductive Stress in Drosophila melanogaster
by Xie, Heng B and Cammarato, Anthony and Rajasekaran, Namakkal S and Zhang, Huali and Suggs, Jennifer A and Lin, Ho-Chen and Bernstein, Sanford I and Benjamin, Ivor J and Golic, Kent G
PLoS Genetics, ISSN 1553-7390, 06/2013, Volume 9, Issue 6, pp. e1003544 - e1003544
Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle... 
LIFE-SPAN | OXIDATIVE STRESS | GAIN-OF-FUNCTION | GENE | DESMIN-RELATED CARDIOMYOPATHY | GENETICS & HEREDITY | HEART FUNCTION | CARDIAC DYSFUNCTION | MODEL | GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY | NEURODEGENERATIVE DISEASES | alpha-Crystallin B Chain - genetics | Humans | Cataract - pathology | alpha-Crystallin B Chain - metabolism | Mutation, Missense | Cardiomyopathies - etiology | Drosophila melanogaster - genetics | Malate Dehydrogenase - genetics | Drosophila melanogaster - metabolism | Cardiomyopathies - genetics | Phosphogluconate Dehydrogenase - genetics | NADP - metabolism | Malate Dehydrogenase - metabolism | Cardiomyopathies - pathology | Isocitrate Dehydrogenase - genetics | Muscular Diseases - pathology | Phosphogluconate Dehydrogenase - metabolism | Metabolic Networks and Pathways - genetics | Animals | Cardiomyopathies - metabolism | Drosophila melanogaster - enzymology | Glucosephosphate Dehydrogenase - metabolism | Cataract - genetics | Isocitrate Dehydrogenase - metabolism | Mice | Glucosephosphate Dehydrogenase - genetics | Muscular Diseases - genetics | NADP - genetics | Index Medicus
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3. Full Text Correlation of Ventricular Arrhythmias With Genotype in Arrhythmogenic Right Ventricular Cardiomyopathy
by Bao, Jingru and Wang, Jizheng and Yao, Yan and Wang, Yilu and Fan, Xiaohan and Sun, Kai and He, Ding Sheng and Marcus, Frank I and Zhang, Shu and Hui, Rutai and Song, Lei
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 12/2013, Volume 6, Issue 6, pp. 552 - 556
BACKGROUND—Although mutations of several genes are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), the exact correlation between... 
Genotype | Tachycardia | Arrhythmogenic right ventricular dysplasia | Ventricular | CARDIAC & CARDIOVASCULAR SYSTEMS | VARIANTS | COMPOUND | FOLLOW-UP | PLAKOPHILIN-2 | ventricular | genotype | GENE | FAMILIES | GENETICS & HEREDITY | DIGENIC HETEROZYGOSITY | arrhythmogenic right ventricular dysplasia | tachycardia | MUTATIONS | SPECTRUM | DYSPLASIA/CARDIOMYOPATHY | Desmoglein 2 - genetics | Genetic Predisposition to Disease - genetics | Transforming Growth Factor beta3 - genetics | Membrane Proteins - genetics | Plakophilins - genetics | Humans | Male | Arrhythmias, Cardiac - physiopathology | Arrhythmogenic Right Ventricular Dysplasia - physiopathology | Arrhythmogenic Right Ventricular Dysplasia - genetics | gamma Catenin | Tachycardia, Ventricular - physiopathology | Desmoplakins - genetics | Lamin Type A - genetics | Electrocardiography | Tachycardia, Ventricular - genetics | Adult | Desmin - genetics | Female | Heterozygote | Mutation | Desmocollins - genetics | Arrhythmias, Cardiac - genetics | Index Medicus
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4. 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
X-linked myotubular myopathy (XLMTM) results from gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to... 
myotubularin | centronuclear | neuromuscular | myotubular | myopathy | muscle | gene therapy | adeno-associated virus | canine | pediatric | NONHUMAN-PRIMATES | EFFICIENT TRANSDUCTION | MUSCLE PATHOLOGY | MEDICINE, RESEARCH & EXPERIMENTAL | CANINE MODEL | ADENOASSOCIATED VIRUS | MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HEMOPHILIA-B | AAV | GENETICS & HEREDITY | RECEPTOR FOOTPRINT | 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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5. 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 and The genetics of soft tissue tumors and Lund University and Division of Clinical Genetics and Avdelningen för klinisk genetik and Lunds universitet and Genetiska avvikelser i mjukdelstumörer
Genes, Chromosomes & Cancer, ISSN 1045-2257, 2017, Volume 56, Issue 10, pp. 750 - 757
Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies... 
CELLULAR ANGIOFIBROMA | FUSION | NEOPLASM | ONCOLOGY | TRANSLOCATIONS | GENES | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | TRANSCRIPTIONAL COACTIVATOR | RADIATION | 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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6. Full Text Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
by McDonald, Kristin K and Stajich, Jeffrey and Blach, Colette and Ashley-Koch, Allison E and Hauser, Michael A
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e48864 - e48864
The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes... 
FRAMEWORK | PHENOTYPE | MYOPATHY | MULTIDISCIPLINARY SCIENCES | DISCOVERY | Contractile Proteins - genetics | Exons | Humans | Middle Aged | Genotype | Male | Sequence Analysis, DNA | Filamins | Exome - genetics | Phenotype | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Adolescent | Adult | Desmin - genetics | Female | Mutation | Child | Microfilament Proteins - genetics | Development and progression | Genetic aspects | Genes | Muscular dystrophy | Disease | Cardiac muscle | Muscles | Genomes | Coronary artery disease | Desmin | Skeletal muscle | Gene sequencing | Annotations | Etiology | Genetics | Dystrophy | Genetic testing | Heart diseases | Deoxyribonucleic acid--DNA | Index Medicus | Deoxyribonucleic acid | DNA
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7. Full Text Huntington's Disease Induced Cardiac Amyloidosis Is Reversed by Modulating Protein Folding and Oxidative Stress Pathways in the Drosophila Heart
by Melkani, Girish C and Trujillo, Adriana S and Ramos, Raul and Bodmer, Rolf and Bernstein, Sanford I and Ocorr, Karen
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1004024 - e1004024
Amyloid-like inclusions have been associated with Huntington's disease (HD), which is caused by expanded polyglutamine repeats in the Huntingtin protein. HD... 
SKELETAL-MUSCLE | DESMIN-RELATED CARDIOMYOPATHY | ALZHEIMERS-DISEASE | MUTANT HUNTINGTIN | GENETICS & HEREDITY | GENE-EXPRESSION | TRANSGENIC MOUSE MODEL | SUPEROXIDE-DISMUTASE | POLYGLUTAMINE INCLUSIONS | CELL-DEATH | MOLECULAR-MECHANISMS | Drosophila melanogaster - physiology | Superoxide Dismutase - biosynthesis | Microtubule-Associated Proteins - genetics | Humans | Huntington Disease - pathology | Peptides - genetics | Amyloid - toxicity | Drosophila melanogaster - genetics | Amyloid - metabolism | Amyloidosis - genetics | Amyloidosis - complications | Disease Models, Animal | Heart - physiopathology | Amyloidosis - pathology | Signal Transduction | Gene Expression Regulation | Oxidative Stress - genetics | Huntington Disease - metabolism | Protein Folding | Huntington Disease - complications | Huntingtin Protein | Animals | Huntington Disease - genetics | Mutation | Amyloidosis - metabolism | Huntington's chorea | Protein folding | Drosophila | Physiological aspects | Genetic research | Genetic aspects | Amyloidosis | Research | Health aspects | Index Medicus | Studies | Heart | Huntingtons disease | Oxidative stress | Insects | Cardiomyopathy | Rodents | Mortality | Defects
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8. Full Text Involvement of renal corpuscle microRNA expression on epithelial-to-mesenchymal transition in maternal low protein diet in adult programmed rats
by Sene, Letícia de Barros and Mesquita, Flávia Fernandes and de Moraes, Leonardo Nazário and Santos, Daniela Carvalho and Carvalho, Robson and Gontijo, José Antônio Rocha and Boer, Patrícia Aline
PloS one, ISSN 1932-6203, 2013, Volume 8, Issue 8, pp. e71310 - e71310
Prior study shows that maternal protein-restricted (LP) 16-wk-old offspring have pronounced reduction of nephron number and arterial hypertension associated... 
UNITED-STATES | FIBROSIS | GROWTH-FACTOR-BETA | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | DISEASE | TARGETING ZEB1 | MIR-200 FAMILY | REPRESSORS ZEB1 | PODOCYTE | BLOOD-PRESSURE | Homeodomain Proteins - metabolism | Transforming Growth Factor beta1 - metabolism | Male | MicroRNAs - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Proteinuria - pathology | Epithelial-Mesenchymal Transition - genetics | Diet, Protein-Restricted - adverse effects | Gene Expression Regulation, Developmental | Female | Collagen - genetics | Membrane Proteins - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Proteinuria - etiology | Podocytes - metabolism | Membrane Proteins - genetics | Proteinuria - metabolism | Rats | Transforming Growth Factor beta1 - genetics | Podocytes - pathology | Prenatal Nutritional Physiological Phenomena - genetics | Fibronectins - metabolism | Homeodomain Proteins - genetics | Pregnancy | Collagen - metabolism | Animals | Desmin - metabolism | Desmin - genetics | Fibronectins - genetics | MicroRNAs - genetics | Hypertension | Fibronectins | MicroRNA | Collagen | Stem cells | Bone morphogenetic proteins | Transforming growth factors | Collagen (type I) | Disease | Mesenchyme | Laboratories | Syngeneic grafts | Fibronectin | Overflow | Proteins | Reduction | Rodents | Hyperfiltration | Growth factors | Low protein diet | Age | Scanning electron microscopy | Filtration | Kidneys | Internal medicine | Fetuses | MiRNA | Gene expression | Desmin | Glomerular filtration rate | Progeny | Offspring | Ribonucleic acids | MicroRNAs | Morphology | Fibrosis | Birth weight | Proteinuria | Kidney transplantation | Index Medicus
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9. Full Text Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
by Olivé, Montse and Odgerel, Zagaa and Martínez, Amaia and Poza, Juan José and Bragado, Federico García and Zabalza, Ramón J and Jericó, Ivonne and Gonzalez-Mera, Laura and Shatunov, Alexey and Lee, Hee Suk and Armstrong, Judith and Maraví, Elías and Arroyo, Maria Ramos and Pascual-Calvet, Jordi and Navarro, Carmen and Paradas, Carmen and Huerta, Mariano and Marquez, Fabian and Rivas, Eduardo Gutierrez and Pou, Adolf and Ferrer, Isidre and Goldfarb, Lev G
Neuromuscular Disorders, ISSN 0960-8966, 2011, Volume 21, Issue 8, pp. 533 - 542
Abstract Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES , CRYAB , MYOT , ZASP , FLNC , or BAG3 genes and characterized... 
Neurology | Myofibrillar myopathy | Myotilin | Desmin | Zasp | PROTEIN | GIRDLE MUSCULAR-DYSTROPHY | ELECTRON-MICROSCOPY | FILAMIN | PATTERNS | NEUROSCIENCES | CLINICAL NEUROLOGY | DESMIN GENE | DISTAL MYOPATHY | SKELETAL MYOPATHY | MUTATIONS | Connectin | Cytoskeletal Proteins - genetics | Myofibrils - pathology | Humans | Middle Aged | Male | Muscular Diseases - classification | Young Adult | Adult | Female | Retrospective Studies | Muscular Diseases - pathology | Mutation - genetics | Spain | Muscle Proteins - genetics | Magnetic Resonance Imaging | Phenotype | Biopsy | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Desmin - genetics | LIM Domain Proteins - genetics | Aged | Muscular Diseases - genetics | Nervous system diseases | Anopheles | Pulmonary function tests | Management science | Medical genetics | Index Medicus | Genètica | Espanya | Malalties musculars | Malalties hereditàries | Muscular Diseases | Genetics | Genetic diseases
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10. Full Text A novel CRYAB mutation resulting in multisystemic disease
by Sacconi, Sabrina and Féasson, Léonard and Antoine, Jean Christophe and Pécheux, Christophe and Bernard, Rafaelle and Cobo, Ana Maria and Casarin, Alberto and Salviati, Leonardo and Desnuelle, Claude and Urtizberea, Andoni
Neuromuscular Disorders, ISSN 0960-8966, 2011, Volume 22, Issue 1, pp. 66 - 72
Abstract Mutations in the CRYAB gene, encoding alpha-B crystallin, cause distinct clinical phenotypes including isolated posterior polar cataract, myofibrillar... 
Neurology | Multisystemic involvement | Myofibrillar myopathy | Alpha-B-crystallin | CRYAB | MYOFIBRILLAR MYOPATHIES | POSTERIOR POLAR CATARACT | CARDIOMYOPATHY | CHINESE FAMILY | IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | DESMIN | PROTEINS | AGGREGATION | alpha-Crystallin B Chain - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Cataract - diagnosis | Humans | Middle Aged | Molecular Chaperones - genetics | Male | Mutation, Missense - genetics | Muscular Diseases - diagnosis | Cardiomyopathies - genetics | Point Mutation - genetics | DNA Mutational Analysis | alpha-Crystallin B Chain - chemistry | Cardiomyopathies - diagnosis | Cataract - genetics | Female | Aged | Muscular Diseases - genetics | Proteins | Physiological aspects | Genetic aspects | Universities and colleges | Genes | Analysis | Index Medicus
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11. Full Text Desmin, desminopathy and the complexity of genetics
by Azzimato, Valerio and Gennebäck, Nina and Tabish, Ali M and Buyandelger, Byambajav and Knöll, Ralph
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 2016, Volume 92, pp. 93 - 95
Cardiovascular | Mutations | Desminopathy | Cardiomyopathy | Intermediate filaments | Desmin | HEART | CARDIAC & CARDIOVASCULAR SYSTEMS | DISKS | SKELETAL | MYOPATHY | CELL BIOLOGY | Cardiomyopathies - genetics | Intermediate Filaments - genetics | Intermediate Filaments - pathology | Humans | Cardiomyopathies - pathology | Desmin - genetics | Mutation | Muscular Dystrophies - genetics | Muscular Dystrophies - pathology | Intermediate filament proteins | Index Medicus
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12. Full Text Primary cutaneous perivascular epithelioid cell tumor: A clinicopathological and molecular reappraisal
by Charli-Joseph, Yann, MD and Saggini, Andrea, MD and Vemula, Swapna, MS and Weier, Jingly, PhD and Mirza, Sonia, MBBS and LeBoit, Philip E., MD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2014, Volume 71, Issue 6, pp. 1127 - 1136
Background Perivascular epithelioid cell tumor (PEComa) is a rare neoplasm of uncertain histogenesis with a mixed myomelanocytic immunophenotype, rarely... 
Dermatology | mTOR pathway | cutaneous clear cell myomelanocytic tumor | perivascular epithelioid cell tumor | initiating mutations | array-based comparative genomic hybridization | CYCLIN D1 | MALIGNANT-MELANOMA | E-CADHERIN | TFE3 GENE FUSIONS | MYOMELANOCYTIC TUMOR | SOFT-TISSUE | DERMATOLOGY | SUGAR TUMOR | COPY NUMBER CHANGES | NEOPLASMS PECOMAS | SPECTRUM | Cyclin D1 - metabolism | Humans | Middle Aged | Male | Phosphoproteins - metabolism | Antigens, CD - genetics | Immunoenzyme Techniques | Antigens, CD - metabolism | DNA Copy Number Variations | Adult | Female | Perivascular Epithelioid Cell Neoplasms - metabolism | Skin Neoplasms - pathology | Microphthalmia-Associated Transcription Factor - metabolism | Phosphoproteins - genetics | Antigens, Differentiation, Myelomonocytic - genetics | Skin Neoplasms - metabolism | Cathepsin K - genetics | Perivascular Epithelioid Cell Neoplasms - pathology | Cathepsin K - metabolism | Comparative Genomic Hybridization | Cyclin D1 - genetics | Biopsy | Perivascular Epithelioid Cell Neoplasms - genetics | Antigens, Differentiation, Myelomonocytic - metabolism | Desmin - metabolism | Skin Neoplasms - genetics | Adaptor Proteins, Signal Transducing - genetics | Desmin - genetics | Aged | Adaptor Proteins, Signal Transducing - metabolism | Microphthalmia-Associated Transcription Factor - genetics | Skin | Tumors | Index Medicus
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