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Journal of Cell Biology, ISSN 0021-9525, 05/2013, Volume 201, Issue 4, pp. 499 - 510
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the... 
SKELETAL-MUSCLE | ALPHA-DYSTROGLYCAN | ABNORMAL GLYCOSYLATION | ALPHA-7-BETA-1 INTEGRIN | 3 UNTRANSLATED REGION | WALKER-WARBURG-SYNDROME | NITRIC-OXIDE | DILATED CARDIOMYOPATHY | MYOTONIC-DYSTROPHY | MEMBRANE REPAIR | CELL BIOLOGY | Dystrophin | Utrophin | Analysis | Muscular dystrophy | Musculoskeletal system | Genotype & phenotype | Neuromuscular diseases | Genes | Reviews
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2008, Volume 40, Issue 11, pp. 1341 - 1347
Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P)(1) is strongly associated with SNPs in IRF6 (interferon regulatory... 
POPULATION | POLYMORPHISMS | GENE | SEQUENCES | ORAL CLEFTS | GENETICS & HEREDITY | MUTATIONS | PALATE | OROFACIAL CLEFTS | CONTRIBUTES | EXPRESSION
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2014, Volume 124, Issue 6, pp. 2651 - 2667
Duchenne muscular dystrophy (DMD) is caused by mutations in the gene encoding dystrophin, which results in dysfunctional signaling pathways within muscle.... 
MEDICINE, RESEARCH & EXPERIMENTAL | SKELETAL-MUSCLE | MDX MOUSE | MESSENGER-RNAS | CENTRONUCLEAR MYOPATHY | GLYCOPROTEIN COMPLEX | C2C12 MYOBLAST | TUMOR-SUPPRESSOR | CELL-PROLIFERATION | MYOBLAST FUSION | PROTEIN-KINASE B | Muscular Dystrophy, Animal - genetics | Up-Regulation | Humans | Male | MicroRNAs - metabolism | Muscle, Skeletal - metabolism | Muscle Fibers, Skeletal - metabolism | Muscular Dystrophy, Animal - pathology | Guanine Nucleotide Exchange Factors - metabolism | Base Sequence | Mice, Inbred mdx | Muscular Dystrophy, Animal - metabolism | Proto-Oncogene Proteins c-akt - metabolism | Cell Line | Guanine Nucleotide Exchange Factors - genetics | Signal Transduction | Mice, Inbred C57BL | PTEN Phosphohydrolase - metabolism | Mice, Transgenic | Muscular Dystrophy, Duchenne - pathology | Nerve Tissue Proteins - genetics | Sequence Homology, Nucleic Acid | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Muscle Fibers, Skeletal - pathology | Mice | MicroRNAs - genetics | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | MicroRNA | Cellular signal transduction | Genetic aspects | Diagnosis | Properties | Genetic regulation | Muscular dystrophy | Muscular system | Mutation | Rodents | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 12, pp. 3180 - 3188
Journal Article