| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aisha Frazier, Daniel P Judge, Steven P Schulman, Nicole Johnson, Kathryn W Holmes, Anne M Murph. Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatric cardiology. vol 29. issue 4. 2008-12-04. PMID:18175163. |
based on these findings, we propose that the tnni3 pro82ser alteration is likely a disease-modifying mutation in a severely affected individual, and, furthermore, carriers of this alteration (3% of african americans) might be at increased risk of late-onset cardiac hypertrophy. |
2008-12-04 |
2023-08-12 |
Not clear |
| Aisha Frazier, Daniel P Judge, Steven P Schulman, Nicole Johnson, Kathryn W Holmes, Anne M Murph. Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatric cardiology. vol 29. issue 4. 2008-12-04. PMID:18175163. |
we report an african american family with hypertrophic cardiomyopathy in which an individual with severe disease has alterations in two sarcomeric protein genes, cardiac beta-myosin heavy chain (myh7) and troponin i (tnni3). |
2008-12-04 |
2023-08-12 |
Not clear |
| Aisha Frazier, Daniel P Judge, Steven P Schulman, Nicole Johnson, Kathryn W Holmes, Anne M Murph. Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatric cardiology. vol 29. issue 4. 2008-12-04. PMID:18175163. |
the tnni3 alteration, replacing proline with serine (pro82ser), has been previously implicated in elderly-onset hypertrophic cardiomyopathy, although its pathogenicity is not clear. |
2008-12-04 |
2023-08-12 |
Not clear |
| Jens Mogensen, Ross T Murphy, Toru Kubo, Ajay Bahl, James C Moon, Ib C Klausen, Perry M Elliott, William J McKenn. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. Journal of the American College of Cardiology. vol 44. issue 12. 2005-01-13. PMID:15607392. |
the aim of this study was to evaluate the potential utility of genetic diagnosis in clinical management of families with hypertrophic cardiomyopathy (hcm) caused by mutations in the gene for cardiac troponin i (tnni3). |
2005-01-13 |
2023-08-12 |
Not clear |
| Paal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, Michael Christiansen, Lars Allan Larse. High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method. Human mutation. vol 21. issue 2. 2003-03-26. PMID:12552558. |
in this study we have validated cae-sscp by 1) comparing detection by slab-gel based sscp with cae-sscp of mutations in the myh7, myl2, and myl3 genes encoding sarcomere proteins from patients suffering from hypertrophic cardiomyopathy; and 2) by constructing a series of 185 mutants having substitution mutations, as well as insertion/deletion mutations, or some combinations of these, in different sequence contexts in four exons and different positions relative to the end of the amplicon (three from the kcnq1 gene, encoding a cardiac potassium channel, and one from the tnni3 gene encoding cardiac troponin i). |
2003-03-26 |
2023-08-12 |
Not clear |
| K Elliott, H Watkins, C S Redwoo. Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. The Journal of biological chemistry. vol 275. issue 29. 2000-08-24. PMID:10806205. |
recently, specific missense mutations of the ctni gene (tnni3) have been shown to cause familial hypertrophic cardiomyopathy (hcm). |
2000-08-24 |
2023-08-12 |
human |