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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
TNNI3
gene.
Bashyam MD, Savithri GR, Kumar MS, Narasimhan C, Nallari P. Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet. 2003;48(2):55-64. Review.
PubMed citation
Entrez
Gene
Gomes AV, Liang J, Potter JD. Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. J Biol Chem. 2005 Sep 2;280(35):30909-15. Epub 2005 Jun 15.
PubMed citation
Gomes AV, Potter JD. Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene. Mol Cell Biochem. 2004 Aug;263(1-2):99-114. Review.
PubMed citation
Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8.
PubMed citation
Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008 Mar;5(3):158-68. doi: 10.1038/ncpcardio1110. Epub 2008 Jan 29. Review. Erratum in: Nat Clin Pract Cardiovasc Med. 2008 Nov;5(11):747.
PubMed citation
Marston SB. How do mutations in contractile proteins cause the primary familial cardiomyopathies? J Cardiovasc Transl Res. 2011 Jun;4(3):245-55. doi: 10.1007/s12265-011-9266-2. Epub 2011 Mar 22. Review.
PubMed citation
OMIM:
TROPONIN I,
CARDIAC
Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of restrictive cardiomyopathy. Heart Fail Clin. 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. Review.
PubMed citation
Willott RH, Gomes AV, Chang AN, Parvatiyar MS, Pinto JR, Potter JD. Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function? J Mol Cell Cardiol. 2010 May;48(5):882-92. doi: 10.1016/j.yjmcc.2009.10.031. Epub 2009 Nov 12. Review.
PubMed citation
Xu Q, Dewey S, Nguyen S, Gomes AV. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. J Mol Cell Cardiol. 2010 May;48(5):899-909. doi: 10.1016/j.yjmcc.2010.03.005. Epub 2010 Mar 16. Review.
PubMed citation
Reviewed: February 2013
Published: May 13, 2013
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