Christopher N Toepfer
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Explore the profile of Christopher N Toepfer including associated specialties, affiliations and a list of published articles.
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25
Citations
790
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Recent Articles
11.
Agarwal R, Paulo J, Toepfer C, Ewoldt J, Sundaram S, Chopra A, et al.
Circ Res
. 2021 Aug;
129(7):751-766.
PMID: 34405687
[Figure: see text].
12.
Psaras Y, Margara F, Cicconet M, Sparrow A, Repetti G, Schmid M, et al.
Circ Res
. 2021 May;
129(2):326-341.
PMID: 34018815
[Figure: see text].
13.
Schmid M, Toepfer C
Biol Open
. 2021 Feb;
10(2).
PMID: 33589442
The fundamental basis of muscle contraction 'the sliding filament model' (Huxley and Niedergerke, 1954; Huxley and Hanson, 1954) and the 'swinging, tilting crossbridge-sliding filament mechanism' (Huxley, 1969; Huxley and Brown,...
14.
Sharma A, Wasson L, Willcox J, Morton S, Gorham J, DeLaughter D, et al.
Elife
. 2020 Oct;
9.
PMID: 33054971
Damaging variants cause cardiac outflow tract defects, sometimes with pancreatic and diaphragmic malformations. To define molecular mechanisms for these diverse developmental defects, we studied transcriptional and epigenetic responses to loss...
15.
Pua C, Tham N, Chin C, Walsh R, Khor C, Toepfer C, et al.
Circ Genom Precis Med
. 2020 Aug;
13(5):424-434.
PMID: 32815737
Background: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry. Methods: We sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634),...
16.
Toepfer C, Garfinkel A, Venturini G, Wakimoto H, Repetti G, Alamo L, et al.
Circulation
. 2020 Jan;
141(10):828-842.
PMID: 31983222
Background: Hypertrophic cardiomyopathy (HCM) is caused by pathogenic variants in sarcomere protein genes that evoke hypercontractility, poor relaxation, and increased energy consumption by the heart and increased patient risks for...
17.
Repetti G, Toepfer C, Seidman J, Seidman C
Circ Res
. 2019 May;
124(11):1536-1550.
PMID: 31120825
Heritable cardiomyopathies are a class of heart diseases caused by variations in a number of genetic loci. Genetic variants on one allele lead to either a degraded protein, which causes...
18.
Garcia-Pavia P, Kim Y, Restrepo-Cordoba M, Lunde I, Wakimoto H, Smith A, et al.
Circulation
. 2019 Apr;
140(1):31-41.
PMID: 30987448
Background: Cancer therapy-induced cardiomyopathy (CCM) is associated with cumulative drug exposures and preexisting cardiovascular disorders. These parameters incompletely account for substantial interindividual susceptibility to CCM. We hypothesized that rare variants...
19.
Toepfer C, Sharma A, Cicconet M, Garfinkel A, Mucke M, Neyazi M, et al.
Circ Res
. 2019 Feb;
124(8):1172-1183.
PMID: 30700234
Rationale: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) in combination with CRISPR/Cas9 genome editing provide unparalleled opportunities to study cardiac biology and disease. However, sarcomeres, the fundamental units of myocyte...
20.
Toepfer C, Wakimoto H, Garfinkel A, McDonough B, Liao D, Jiang J, et al.
Sci Transl Med
. 2019 Jan;
11(476).
PMID: 30674652
The mechanisms by which truncating mutations in (encoding cardiac myosin-binding protein C; cMyBPC) or myosin missense mutations cause hypercontractility and poor relaxation in hypertrophic cardiomyopathy (HCM) are incompletely understood. Using...