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Human Molecular Genetics, ISSN 0964-6906, 01/2019, Volume 28, Issue 2, pp. 279 - 289
Abstract Like other single-gene disorders, muscular dystrophy displays a range of phenotypic heterogeneity even with the same primary mutation. Identifying... 
KINASE SIGNAL-TRANSDUCTION | SKELETAL-MUSCLE | ACTIVATION | PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | CARDIAC-HYPERTROPHY | MYOSTATIN | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | GAMMA-SARCOGLYCAN | PROLIFERATION | REVEALS
Journal Article
MOVEMENT DISORDERS, ISSN 0885-3185, 11/2016, Volume 31, Issue 11, pp. 1694 - 1703
BackgroundMyoclonus-dystonia is a neurogenic movement disorder caused by mutations in the gene encoding -sarcoglycan. By contrast, mutations in the -, -, -,... 
NERVOUS-SYSTEM | GAMMA-SARCOGLYCAN | PLASMA-MEMBRANE | CLINICAL NEUROLOGY | ALPHA-SARCOGLYCAN | sarcoglycan | ZETA-SARCOGLYCAN | dystonia | GLYCOPROTEIN COMPLEX | DYT11 | MOLECULAR PATHOGENESIS | PSYCHIATRIC-DISORDERS | BETA-SARCOGLYCAN | DELTA-SARCOGLYCAN
Journal Article
Diabetes, ISSN 0012-1797, 05/2013, Volume 62, Issue 5, pp. 1746 - 1755
We performed a genome-wide association study (GWAS) and a multistage meta-analysis of type 2 diabetes (T2D) in Punjabi Sikhs from India. Our discovery GWAS in... 
GENETIC-VARIATION | DISEASES | GENOTYPE IMPUTATION | GLUCOSE | CARDIOMYOPATHY | ENDOCRINOLOGY & METABOLISM | MUSCLE | BODY-MASS INDEX | HYPERINSULINEMIA | GAMMA-SARCOGLYCAN | EPIDEMIOLOGY | Type 2 diabetes | Physiological aspects | Genetic aspects | Research | Genetic variation | Risk factors | Original Research
Journal Article
AMERICAN JOURNAL OF PATHOLOGY, ISSN 0002-9440, 03/2014, Volume 184, Issue 3, pp. 740 - 752
The adhesion molecule taminin alpha 2 chain interacts with the dystrophin-glycoprotein complex, contributes to normal muscle function, and protects skeletal... 
INTEGRIN ALPHA-7-BETA-1 | SKELETAL-MUSCLE | CONGENITAL MUSCULAR-DYSTROPHY | GLYCOPROTEIN COMPLEX | MOUSE MODEL | MICE LACKING UTROPHIN | EXTRAOCULAR-MUSCLE | GAMMA-SARCOGLYCAN | EXTRACELLULAR-MATRIX | PATHOLOGY | MDX MICE
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 05/2019, Volume 9, Issue 1, pp. 6915 - 15
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2009, Volume 119, Issue 12, pp. 3703 - 3712
Most single-gene diseases, including muscular dystrophy, display a nonuniform phenotype. Phenotypic variability arises, in part, due to the presence of genetic... 
MEDICINE, RESEARCH & EXPERIMENTAL | MDX MOUSE | LTBP-4 | GENETIC MODIFIERS | DISRUPTION | DISEASE SEVERITY | LUNG-DISEASE | CALCIFICATION | GAMMA-SARCOGLYCAN | CYSTIC-FIBROSIS | MUSCLE-CELLS
Journal Article
Journal Article
Circulation Research, ISSN 0009-7330, 12/2011, Volume 109, Issue 12, pp. 1325 - 1326
Journal Article
Frontiers in Bioscience - Landmark, ISSN 1093-9946, 01/2016, Volume 21, Issue 4, pp. 744 - 756
Journal Article