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Full-Text Articles in Cardiology
A Novel Missense Mutation In Tnni3k Causes Recessively Inherited Cardiac Conduction Disease In A Consanguineous Pakistani Family, Shafaq Ramzan, Stephanie Tennstedt Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Shahid Mahmood Baig
A Novel Missense Mutation In Tnni3k Causes Recessively Inherited Cardiac Conduction Disease In A Consanguineous Pakistani Family, Shafaq Ramzan, Stephanie Tennstedt Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Shahid Mahmood Baig
Department of Biological & Biomedical Sciences
Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in most cases, it disrupts the synchronous activity of impulse-generating nodes and impulse-conduction underlying the normal heartbeat. In this study, we investigated a consanguineous Pakistani family comprised of four patients with CCD. We applied whole exome sequencing (WES) and co-segregation analysis, which identified a novel homozygous missense mutation (c.1531T>C;(p.Ser511Pro)) in the highly conserved kinase domain of the cardiac troponin I-interacting kinase (TNNI3K) encoding gene. The behaviors of …
Interplay Between Oxidative Stress, Sirt1, Reproductive And Metabolic Functions, Faiza Alam, Hareem Syed, Sofia Amjad, Mukhtiar Baig, Taseer Ahmed Khan, Rehana Rehman
Interplay Between Oxidative Stress, Sirt1, Reproductive And Metabolic Functions, Faiza Alam, Hareem Syed, Sofia Amjad, Mukhtiar Baig, Taseer Ahmed Khan, Rehana Rehman
Department of Biological & Biomedical Sciences
Silent information Regulators (SIRT1) gene stimulates antioxidants' expression, repairs cells damaged by oxidative stress (OS), and prevents the cells' dysfunction. In particular, the role of different Sirtuins, particularly SIRT1 in reproduction, has been widely studied over the past decade. Decreased SIRT 1 causes mitochondrial dysfunction by increasing Reactive Oxygen Species (ROS), lipid peroxidation, and DNA damage in both male and female gametes (Sperms and Oocytes), leading to infertility. In the female reproductive system, SIRT1 regulates proliferation and apoptosis in granulosa cells (GCs), and its down-regulation is associated with a reduced ovarian reserve. SIRT1 also modulates the stress response to OS …
Pericardial Fluid Proteomic Label-Free Quantification Of Differentially Expressed Proteins In Ischemic Heart Disease Patients With Systolic Dysfunction By Nano-Lc-Esi-Ms/Ms Analysis, Junaid Ullah, Satwat Hashmi, Arslan Ali, Faisal Khan, Shahid Ahmed Sami, Nageeb Basir, Syedah Saira Bokhari, Hasanat Sharif, Hesham R. El-Seedi, Syed Ghulam Musharraf
Pericardial Fluid Proteomic Label-Free Quantification Of Differentially Expressed Proteins In Ischemic Heart Disease Patients With Systolic Dysfunction By Nano-Lc-Esi-Ms/Ms Analysis, Junaid Ullah, Satwat Hashmi, Arslan Ali, Faisal Khan, Shahid Ahmed Sami, Nageeb Basir, Syedah Saira Bokhari, Hasanat Sharif, Hesham R. El-Seedi, Syed Ghulam Musharraf
Department of Biological & Biomedical Sciences
Left ventricular systolic dysfunction (LVSD) is common in patients with pre-existing ischemic heart disease (IHD) and myocardial infarction. An untargeted proteomic approach is used to improve the understanding of the molecular mechanisms associated with LVSD and to find out potential proteomic signatures in pericardial fluid. The pericardial fluid of IHD (n = 45) patients was grouped into two categories according to the left ventricular ejection fraction, LVEF ≥45 (n = 33) and LVEF <45 (n = 12), and analyzed by using nano-liquid chromatography–mass spectrometry (nano-LC-MS/MS) technique. The nano-LC-MS/MS analysis resulted in the identification of 709 pericardial fluid (PF) proteins …