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المؤلفون: Michael E. Wright, Daniel Beltrán-Valero de Bernabé, Aaron M. Beedle, Kei-ichiro Inamori, Kevin P. Campbell
المصدر: Glycobiology
مصطلحات موضوعية: 0301 basic medicine, Glycan, Glycosylation, Bioinformatics, Biochemistry, Glycosaminoglycan, Extracellular matrix, 03 medical and health sciences, chemistry.chemical_compound, Mice, dystroglycan, glycosaminoglycan, laminin binding, LARGE2, proteoglycan, Laminin, Glycosyltransferase, Animals, Laminin binding, Embryonic Stem Cells, Mice, Knockout, Binding Sites, biology, Chemistry, Glycosyltransferases, Cell Biology, Original articles, Cell biology, carbohydrates (lipids), 030104 developmental biology, Proteoglycan, biology.protein, Proteoglycans
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c7296af445007e7557056a50a0a9428
https://pubmed.ncbi.nlm.nih.gov/27496765 -
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المؤلفون: Jennifer R. Levy, Ellie M. Frett, Daniel Beltrán-Valero de Bernabé, Kevin P. Campbell, Rainer Ng, Renzhi Han, John D. Lueck, Steven A. Moore, John A. Faulkner, Erik P. Rader, Dimple Bansal
المصدر: Journal of Clinical Investigation. 120:4366-4374
مصطلحات موضوعية: Dysferlinopathy, Transgene, Mice, Transgenic, Dysferlin, Mice, Immune system, medicine, Animals, Humans, Muscular dystrophy, Muscle, Skeletal, Mice, Knockout, biology, Membrane Proteins, Complement C3, General Medicine, Muscular Dystrophy, Animal, medicine.disease, Complement system, Cell biology, Immunology, Mice, Inbred mdx, biology.protein, medicine.symptom, ITGA7, Muscle Contraction, Research Article, Muscle contraction
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المؤلفون: Kevin P. Campbell, Greg Morgensen, Tobias Willer, Kei-ichiro Inamori, Liping Yu, Yuji Hara, Kevin M. Wright, Daniel Beltrán-Valero de Bernabé, David Venzke, Corinne Harvey
المصدر: eLife, Vol 3 (2014)
eLifeمصطلحات موضوعية: Magnetic Resonance Spectroscopy, B4GAT1, Golgi Apparatus, Biochemistry, Substrate Specificity, Cell membrane, Mice, chemistry.chemical_compound, 0302 clinical medicine, Glucuronic Acid, Phosphorylation, Biology (General), Dystroglycans, 0303 health sciences, Xylose, biology, General Neuroscience, General Medicine, 3. Good health, Protein Transport, medicine.anatomical_structure, symbols, Medicine, Research Article, Subcellular Fractions, Glycan, Glycosylation, glycosylation, QH301-705.5, Protein subunit, Science, LARGE, N-Acetylglucosaminyltransferases, Models, Biological, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, symbols.namesake, alpha-dystroglycan, Glycosyltransferase, Dystroglycan, medicine, Animals, Humans, B3GNT1, Human Biology and Medicine, mouse, 030304 developmental biology, General Immunology and Microbiology, Fibroblasts, Golgi apparatus, Embryo, Mammalian, basement membrane, chemistry, Mutation, biology.protein, Mutant Proteins, 030217 neurology & neurosurgery, Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0284b0f6dbf5ee9757d2c74cd28b393e
https://elifesciences.org/articles/03941 -
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المؤلفون: Kevin M. Wright, Yuji Hara, Kei-ichiro Inamori, Corinne Harvey, Tobias Willer, Kevin P. Campbell, Daniel Beltrán-Valero de Bernabé, Greg Morgensen, Liping Yu, David Venzke
مصطلحات موضوعية: chemistry.chemical_compound, Glycosylation, Chemistry, α dystroglycan, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0037d4b1e92f5720d4228e09f1f44e2a
https://doi.org/10.7554/elife.03941.022 -
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المؤلفون: Lucy Feng, Susan C. Brown, Caroline Sewry, Martin Brockington, Francesco Muntoni, Daniel Beltrán-Valero de Bernabé, Cecilia Jimenez-Mallebrera, Silvia Torelli
المصدر: European Journal of Paediatric Neurology, 7, 129-37
European Journal of Paediatric Neurology, 7, 3, pp. 129-37مصطلحات موضوعية: Male, musculoskeletal diseases, Pathology, medicine.medical_specialty, Glycosylation, Genetic Linkage, Blotting, Western, Muscle Fibers, Skeletal, α dystroglycan, Collagen Type VI, Perlecan, Biology, Mannosyltransferases, Basement Membrane, Muscular Dystrophies, Dystroglycans, Extracellular matrix, Central Nervous System Diseases, Collagen VI, Internal medicine, medicine, Humans, Walker–Warburg syndrome, Membrane Glycoproteins, Chemistry, fungi, Infant, Skeletal muscle, Syndrome, General Medicine, Anatomy, medicine.disease, Immunohistochemistry, Cytoskeletal Proteins, Endocrinology, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Congenital muscular dystrophy, Female, Basal lamina, Laminin, Schizosaccharomyces pombe Proteins, Neurology (clinical), Protein Kinases, Heparan Sulfate Proteoglycans
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المؤلفون: Charlotte Dravet, B. Anta, D. Grid, José M. Serratosa, Samuel F. Berkovic, Meral Topçu, Carlo Alberto Tassinari, Roberto Michelucci, Paul B. Augustijn, Daniel Beltrán-Valero de Bernabé, M.E. Gallardo, Alain Malafosse, Dick Lindhout, Pilar Gómez-Garre, Santiago Rodríguez de Córdoba
المساهمون: Çocuk Sağlığı ve Hastalıkları, Clinical Genetics
المصدر: Human Molecular Genetics, 8(2), 345-352. Oxford University Press
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Male, Biochemistry & Molecular Biology, congenital, hereditary, and neonatal diseases and abnormalities, DNA, Complementary, Positional cloning, DNA Mutational Analysis, Molecular Sequence Data, Epilepsies, Myoclonic, Progressive myoclonus epilepsy, Biology, Polymerase Chain Reaction, Inclusion bodies, Lafora disease, Gene mapping, Genetics, medicine, Humans, Amino Acid Sequence, Molecular Biology, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Genetics & Heredity, Base Sequence, Sequence Homology, Amino Acid, DNA, General Medicine, Disease gene identification, medicine.disease, Pedigree, Genes, Mutation, Chromosomes, Human, Pair 6, Female, Protein Tyrosine Phosphatases, medicine.symptom, Sequence Alignment, Laforin, Myoclonus, Microsatellite Repeats
وصف الملف: text/plain; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0f41a0096bf5de6cfe42fb4221c222a
https://doi.org/10.1093/hmg/8.2.345 -
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المؤلفون: Brian J. Smith, Michael R. Miller, Christopher S. Stipp, Daniel Beltrán-Valero de Bernabé, Melissa M. Meier, Kevin P. Campbell, Alison K. Esser, Qin Huang, Michael D. Henry, Charles F. Lynch, Michael B. Cohen
المصدر: The Journal of biological chemistry. 288(4)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, animal structures, Cell Separation, Biochemistry, Epithelium, Prostate cancer, chemistry.chemical_compound, Laminin, Prostate, Cell Movement, Cell Line, Tumor, medicine, Dystroglycan, Humans, Neoplasm Invasiveness, RNA, Small Interfering, Dystroglycans, Molecular Biology, Cell Proliferation, Gene knockdown, biology, Cell growth, Cancer, Glycosyltransferases, Membrane Proteins, Prostatic Neoplasms, Molecular Bases of Disease, Cell Biology, medicine.disease, musculoskeletal system, Flow Cytometry, Molecular biology, Immunohistochemistry, Extracellular Matrix, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, chemistry, Microscopy, Fluorescence, biology.protein, Cancer research, Disease Progression, tissues
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7942fd6f67ed953538af564a58d4d2e
https://pubmed.ncbi.nlm.nih.gov/23223448 -
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المؤلفون: Kevin Campbell, Renzhi Han, Kazuhiro Kobuke, Mary Anderson, Daniel Beltrán-Valero de Bernabé, Yvonne Kobayashi, Baoli Yang
المصدر: Protocol Exchange.
مصطلحات موضوعية: Dysferlin, biology, biology.protein, General Earth and Planetary Sciences, Null Mouse, Molecular biology, Genotyping, General Environmental Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::adf1cb5548e02992c7a3164e43aa730e
https://doi.org/10.1038/protex.2011.232 -
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المؤلفون: Francesco Muntoni, Hulya Gundesli, Beril Talim, Haluk Topaloglu, Motoi Kanagawa, Jakob S. Satz, Alessio Accardi, Stefan Kunz, Yuji Hara, Steven J. Burden, Daniel Beltrán-Valero de Bernabé, Pervin Dinçer, Robert W. Crawford, Takako Yoshida-Moriguchi, Kevin P. Campbell, Burcu Balci-Hayta, Tobias Willer, Michael B. A. Oldstone
المصدر: New England Journal of Medicine, vol. 364, no. 10, pp. 939-946
مصطلحات موضوعية: musculoskeletal diseases, animal structures, Mutation, Missense, Article, Dystroglycans, Mice, Laminin, medicine, Dystroglycan, Missense mutation, Animals, Humans, Muscular dystrophy, biology, Skeletal muscle, General Medicine, Sequence Analysis, DNA, medicine.disease, Disease Models, Animal, Dystroglycans/genetics, Female, Muscular Dystrophies, Limb-Girdle/genetics, Pedigree, Phenotype, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, biology.protein, Cancer research, Pikachurin, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
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المؤلفون: Daniel Beltrán-Valero de Bernabé, Michael D. Henry, Christine J. Weydert, Takako Yoshida-Moriguchi, Tobias Willer, Kevin P. Campbell, Kei-ichiro Inamori, Hollie A. Harper
المصدر: The Journal of Biological Chemistry
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, animal structures, Glycosylation, Skin Neoplasms, Glycobiology and Extracellular Matrices, N-Acetylglucosaminyltransferases, Biochemistry, Models, Biological, Epithelium, Cell membrane, Extracellular matrix, 03 medical and health sciences, 0302 clinical medicine, Laminin, Cell surface receptor, Cell Line, Tumor, medicine, Dystroglycan, Cell Adhesion, Humans, Gene Silencing, Neoplasm Metastasis, Cell adhesion, Laminin binding, Dystroglycans, Molecular Biology, 030304 developmental biology, 0303 health sciences, biology, Cell Biology, musculoskeletal system, 3. Good health, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Cancer cell, Cancer research, biology.protein, HeLa Cells, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c32aa43d9ed964bb2a3f36923e2b7787
https://pubmed.ncbi.nlm.nih.gov/19244252
