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Jeffrey A Towbin

Explore the profile of Jeffrey A Towbin including associated specialties, affiliations and a list of published articles. Areas
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Articles 335
Citations 32890
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Recent Articles
11.
Orgil B, Munkhsaikhan U, Pierre J, Li N, Xu F, Alberson N, et al.
Am J Physiol Heart Circ Physiol . 2023 Apr; 324(6):H866-H880. PMID: 37083466
The transmembrane protein 43 (TMEM43/LUMA) p.S358L mutation causes arrhythmogenic cardiomyopathy named as ARVC5, a fully penetrant disease with high risk of ventricular arrhythmias, sudden death, and heart failure. Male gender...
12.
Bajpai A, Gu Q, Orgil B, Xu F, Torres-Rojas C, Zhao W, et al.
Front Cardiovasc Med . 2023 Feb; 10:1089963. PMID: 36818345
Background: Copper (Cu) is essential for the functioning of various enzymes involved in important cellular and physiological processes. Although critical for normal cardiac function, excessive accumulation, or deficiency of Cu...
13.
Orgil B, Xu F, Munkhsaikhan U, Alberson N, Bajpai A, Johnson J, et al.
Physiol Genomics . 2022 Dec; 55(2):51-66. PMID: 36534598
The genetic reference population of recombinant inbred BXD mice has been derived from crosses between C57BL/6J and DBA/2J strains. The DBA/2J parent exhibits cardiomyopathy phenotypes, whereas C57BL/6J has normal heart....
14.
Morin C, Sharma A, Selukar S, Beasley G, Merlocco A, Goode C, et al.
Blood . 2022 Nov; 141(11):1358-1362. PMID: 36441963
No abstract available.
15.
Rai P, Okhomina V, Guolian Kang , Akil N, Towbin J, Hankins J, et al.
Haematologica . 2022 Oct; 108(2):594-598. PMID: 36200422
No abstract available.
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17.
Camors E, Roth A, Alef J, Sullivan R, Johnson J, Purevjav E, et al.
Circulation . 2022 Apr; 145(21):1609-1624. PMID: 35437032
Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder of desmosomal dysfunction, and PKP2 (plakophilin-2) has been reported to be the most common disease-causing gene when mutation-positive. In the early...
18.
Chintanaphol M, Orgil B, Alberson N, Towbin J, Purevjav E
Rev Cardiovasc Med . 2022 Mar; 23(3):108. PMID: 35345275
Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles. Diastolic...
19.
Maron B, Desai M, Nishimura R, Spirito P, Rakowski H, Towbin J, et al.
J Am Coll Cardiol . 2022 Jan; 79(4):390-414. PMID: 35086661
Hypertrophic cardiomyopathy (HCM), a relatively common, globally distributed, and often inherited primary cardiac disease, has now transformed into a contemporary highly treatable condition with effective options that alter natural history...
20.
Maron B, Desai M, Nishimura R, Spirito P, Rakowski H, Towbin J, et al.
J Am Coll Cardiol . 2022 Jan; 79(4):372-389. PMID: 35086660
Hypertrophic cardiomyopathy (HCM) is a relatively common often inherited global heart disease, with complex phenotypic and genetic expression and natural history, affecting both genders and many races and cultures. Prevalence...