The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
Open accessAbstract
We identified the alpha-cardiac actin gene (ACTC) as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC). Linkage analyses excluded all the previously reported FHC loci as possible disease loci in the family studied, with lod scores varying between -2.5 and -6.0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3.6. Mutation analysis of ACTC revealed an Ala295Ser mutation in exon 5 close to 2 missense mutations recently described to cause the inherited form of idiopathic dilated cardiomyopathy (IDC). ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC.
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Cited by
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Marian, A. J., & Braunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311059 · Cited by 1,403
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Endocytosis and signaling: Cell logistics shape the eukaryotic cell plan
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Self-citation
Metadata
- Authors
- Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., & Børglum, A. D.
- Venue
- Journal of Clinical Investigation
- Published
- 1999-05-15
- Volume
- 103
- Issue
- 10
- Pages
- R39-R43
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2158081637
- Cited by
- 396
- References
- 20
- FWCI
- 25.12
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., & Børglum, A. D. (1999). α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Journal of Clinical Investigation. https://doi.org/10.1172/jci6460
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