Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy (Q28268628)

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author

Michelle S Parvatiyar

9

object named as

Michelle S Parvatiyar

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author name string

Ray E Hershberger

1

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Jose Renato Pinto

2

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Sharie B Parks

3

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Jessica D Kushner

4

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Duanxiang Li

5

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Susan Ludwigsen

6

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Jason Cowan

7

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Ana Morales

8

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James D Potter

Circulation: Cardiovascular Genetics

10

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language of work or name

English

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publication date

August 2009

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published in

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volume

2

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issue

4

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page(s)

306-13

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cites work

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Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype

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Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization

20 March 2017

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Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form

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Cardiac troponin T isoforms affect the Ca2+ sensitivity and inhibition of force development. Insights into the role of troponin T isoforms in the heart

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Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

20 March 2017

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Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

20 March 2017

1 reference

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

20 March 2017

1 reference

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Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q

20 March 2017

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Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

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27 November 2018

1 reference

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Cardiac troponin T isoforms affect the Ca(2+) sensitivity of force development in the presence of slow skeletal troponin I: insights into the role of troponin T isoforms in the fetal heart.

27 November 2018

1 reference

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27 November 2018

1 reference

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27 November 2018

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Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20031601

12 December 2020

inferred from PubMed ID database lookup

Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20031601

12 December 2020

inferred from PubMed ID database lookup

Different functional properties of troponin T mutants that cause dilated cardiomyopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20031601

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1161/CIRCGENETICS.108.846733

1 reference

1 reference

1 reference

PubMed publication ID

20031601

1 reference