Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies

Affiliations

¹ University of California, San Diego Institute of Molecular Medicine, University of California, San Diego School of Medicine, La Jolla, California 92093, USA. kchien@ucsd.edu

Kenneth R Chien. J Clin Invest. 2003 Jan.

. 2003 Jan;111(2):175-8.

doi: 10.1172/JCI17612.

¹ University of California, San Diego Institute of Molecular Medicine, University of California, San Diego School of Medicine, La Jolla, California 92093, USA. kchien@ucsd.edu

Erratum in

No abstract available

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ. Mogensen J, et al. J Clin Invest. 2003 Jan;111(2):209-16. doi: 10.1172/JCI16336. J Clin Invest. 2003. PMID: 12531876 Free PMC article.

1. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557–567. - PubMed
1. Arber S, et al. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell. 1997;88:393–403. - PubMed
1. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280:750–752. - PubMed
1. Chien KR. Genomic circuits and the integrative biology of cardiac diseases. Nature. 2000;407:227–232. - PubMed
1. Hoshijima M, Chien KR. Mixed signals in heart failure: cancer rules. J. Clin. Invest. 2002;109:849–855. doi:10.1172/JCI200215380. - PMC - PubMed