The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.

By J. G. Seidman, Christine E. Seidman. Cell, 2001

1,109 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/2213abd3fa34f6a4ec077cfc2633ddb7bafab27d

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cardiology and Cardiovascular Medicine

1. P. Spirito
2. B. Maron
3. C. Seidman
4. Tasuku Honjo
5. Taku Okazaki
6. Donald M. Bers
7. C. Gregorio
8. Judith Hochman

In Molecular Biology

1. R. Lewis
2. Tasuku Honjo
3. Taku Okazaki
4. Donald M. Bers
5. Euan A. Ashley
6. C. Gregorio
7. K. Clark
8. M. Beckerle

Citations in the corpus

• PD-1 and PD-1 ligands: from discovery to clinical application. (2007, positive): “Mutations in the cTnI gene have been found in familial DCM and hypertrophic cardiomyopathy ( 38 , 39).”
• Protein kinase cascades in the regulation of cardiac hypertrophy. (2005, neutral): “genetic mutations affecting sarcomeric or cytoskeletal proteins or proteins involved in calcium homeostasis and is reviewed elsewhere (17).”
• Striated muscle cytoarchitecture: an intricate web of form and function. (2002, positive): “…et al. 1996) MyBP-C Dilated cardiomyopathy (mouse) Hypertrophic cardiomyopathy (McConnell et al. 1999); (Marian & Roberts 2001, hypertrophic cardiomyopathy and Seidman & Seidman 2001) sudden death, ↓ exercise capacity (mouse) (Yang et al. 2001, Harris et al. 2002) (Continued ) Third and fourth…”
• Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells (2013, positive): “…of HCM including expression of atrial natriuretic factor (ANF), elevation of b-myosin/a-myosin ratio, calcineurin activation, and nuclear translocation of nuclear factor of activated T cells (NFAT) as detected by immunostaining (Figures 2D–2H, Figures S2E and S2F) (Seidman and Seidman, 2001).”
• Human disease classification in the postgenomic era: A complex systems approach to human pathobiology (2007, neutral): “In contrast to familial PAH, hypertrophic cardiomyopathy can be caused by mutations in several different genes that code for different sarcomeric proteins, including myosin heavy chain, myosin light chain, tropomyosin, and troponin C (Seidman and Seidman, 2001), as well as non-sarcomeric proteins.”
• The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. (2002, neutral): “Cardiac actin mutations have been identified in familial forms of human DCM (Olson et al., 1998) and a diverse group of Summary cytoskeletal gene mutations have now been linked to DCM (Seidman and Seidman, 2001).”
• American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice G (2003, positive): “It is possible to regard the diverse clinical spectrum as a single, unified disease entity and primary disorder of the sarcomere (18,63).”