Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy

Podrobná bibliografie
Hlavní autoři:	Abdulrazzak, H, Knott, A, Redwood, C, Esposito, G, Watkins, H, Marston, S
Médium:	Journal article
Vydáno:	2001

Podobné jednotky

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Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.
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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
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Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.
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A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
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Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
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How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
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Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
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