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PMID:21642240
| Citation |
Rodriguez, G, Ueyama, T, Ogata, T, Czernuszewicz, G, Tan, Y, Dorn, GW 2nd, Bogaev, R, Amano, K, Oh, H, Matsubara, H, Willerson, JT and Marian, AJ (2011) Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet 4:349-58 |
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| Abstract |
Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are classic forms of systolic and diastolic heart failure, respectively. Mutations in genes encoding sarcomere and cytoskeletal proteins are major causes of HCM and DCM. MURC, encoding muscle-restricted coiled-coil, a Z-line protein, regulates cardiac function in mice. We investigated potential causal role of MURC in human cardiomyopathies. |
| Links |
PubMed PMC3157556 Online version:10.1161/CIRCGENETICS.111.959866 |
| Keywords |
Animals; Cardiomyopathy, Dilated/etiology; Cardiomyopathy, Dilated/genetics; Cardiomyopathy, Hypertrophic/genetics; Case-Control Studies; DNA Mutational Analysis; Humans; Muscle Cells/metabolism; Muscle Cells/pathology; Muscle Proteins/genetics; Muscle Proteins/physiology; Mutant Proteins/genetics; Mutation; Rats; Transfection |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0010468: regulation of gene expression |
ECO:0000315: |
P |
Fig 3. |
complete | ||||
|
involved_in |
GO:0010468: regulation of gene expression |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
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