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PLoS Genetics, ISSN 1553-7390, 08/2014, Volume 10, Issue 8, pp. e1004550 - e1004550
Journal Article
PLoS Genetics, ISSN 1553-7390, 06/2013, Volume 9, Issue 6, pp. e1003544 - e1003544
Journal Article
Journal Article
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
Journal Article
Genes, Chromosomes & Cancer, ISSN 1045-2257, 2017, Volume 56, Issue 10, pp. 750 - 757
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1004024 - e1004024
Journal Article
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
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2011, Volume 21, Issue 8, pp. 533 - 542
Journal Article
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
Journal Article