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Human mutation, ISSN 1059-7794, 9/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor
Journal Article
Neuropathology, ISSN 0919-6544, 08/2018, Volume 38, Issue 4, pp. 433 - 437
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2016, Volume 53, Issue 1, pp. 49 - 57
Journal Article
Urologic Oncology: Seminars and Original Investigations, ISSN 1078-1439, 10/2019, Volume 37, Issue 10, pp. 735 - 741
Renal cell carcinoma (RCC) is the most typical type of kidney cancer in adults. Hypercalcemia is a well known paraneoplastic syndrome associated with RCC and... 
DYSF | Clear cell renal cell carcinoma | ICGC | TCGA | Prognostic marker | Calcium channels | Analysis | Oncology, Experimental | Genetic research | Carcinoma, Renal cell | Research | Gene expression | Cancer | Index Medicus
Journal Article
SCANDINAVIAN JOURNAL OF LABORATORY ANIMAL SCIENCE, ISSN 0901-3393, 2010, Volume 37, Issue 2, pp. 93 - 99
Dysferlinopathies include Limb-Girdle Muscular Dystrophy type 2B and Miyoshi Myopathy, which exhibit an autosomal recessive inheritance pattern of the... 
MUTATION | DYSF | VETERINARY SCIENCES
Journal Article
Saudi Medical Journal, ISSN 0379-5284, 12/2017, Volume 38, Issue 12, pp. 1190 - 1195
Objectives: To identify the underlying gene mutation in a large consanguineous Pakistani family. Methods: This is an observational descriptive study carried... 
DYSF | Consanguinity | Pakistan | Miyoshi myopathy | Novel frameshift mutation | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | MUSCULAR-DYSTROPHY 2B | KOREAN PATIENTS | PHENOTYPE | COHORT | DYSFERLINOPATHY
Journal Article
Saudi medical journal, ISSN 0379-5284, 12/2017, Volume 38, Issue 12, pp. 1190 - 1195
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the... 
Gene amplification | Research | Gene mutations | Muscular dystrophy | Index Medicus | Original | DYSF | Consanguinity | Pakistan | Miyoshi myopathy | Novel frameshift mutation
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2013, Volume 47, Issue 5, pp. 740 - 747
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2012, Volume 7, Issue 6, pp. e39233 - e39233
Journal Article
Molecular Therapy, ISSN 1525-0016, 09/2017, Volume 25, Issue 9, pp. 2150 - 2162
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2018, Volume 13, Issue 8, pp. e0202052 - e0202052
Dysferlin (Dysf) and mitsugumin53 (MG53) are two key proteins involved in membrane repair of muscle cells which are efficiently recruited to the sarcolemma... 
SKELETAL-MUSCLE | REPAIR | PROTEIN | FUSION | MULTIDISCIPLINARY SCIENCES | IN-VIVO | SARCOLEMMA | INJURY | GIRDLE MUSCULAR-DYSTROPHY | CAVEOLIN-3 | BINDING | Sarcolemma | Muscles | Amino acids | Zebrafish | Muscular dystrophy | Proteins | Musculoskeletal system | Toxicology | Inclusion bodies | Lesions | Position (location) | Localization | Nanotechnology | Applied physics | Index Medicus
Journal Article
Journal of Cell Science, ISSN 0021-9533, 2017, Volume 130, Issue 5, pp. 841 - 852
The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is... 
Limb-girdle muscular dystrophy type 2B | C2 domain protein | Miyoshi myopathy | Phosphatidylinositol 4 | Dysferlin | T-tubule system | Dysferlinopathy | 5-bisphosphate | Muscular dystrophy | Phosphatidylinositol 4, 5-bisphosphate | CENTRONUCLEAR MYOPATHY | SARCOLEMMA | PHOSPHOINOSITIDES | CELL BIOLOGY | muscular dystrophy type 2B | TRANSVERSE TUBULES | REPAIR | SKELETAL-MUSCLE FIBERS | Limb-girdle | AMPHIPHYSIN-2 BIN1 | BINDING-PROPERTIES | MUTATIONS | C2 DOMAINS REVEALS | Dynamins - metabolism | Calcium - metabolism | Humans | Cercopithecus aethiops | Muscle Proteins - deficiency | Membrane Proteins - deficiency | Phosphatidylinositol 4,5-Diphosphate - metabolism | Muscle Proteins - metabolism | Membrane Proteins - metabolism | Sarcolemma - metabolism | Physical Conditioning, Animal | Tumor Suppressor Proteins - metabolism | Muscular Dystrophies - metabolism | Muscular Dystrophies - pathology | Mice, Knockout | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Sarcolemma - ultrastructure | Protein Binding | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | COS Cells | Caveolin 3 - metabolism | Dysf gene | Muscles | Biosynthesis | Phosphatidylinositol 4,5-diphosphate | Skeletal muscle | Mutants | Recruitment | Mode of action | Morphogenesis | Evolution | Liposomes | Dystrophy | Mutation | Myopathy | Index Medicus
Journal Article