Shafaq Ramzan

Ms. Shafaq Ramzan


Research Focus & Metrics

Academic Career Length

6Years (2021-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

View All Publications
21 August 2021 in Genes
Verified
Journal Article
Open access
PDF file
SRShafaq Ramzan
Shafaq Ramzan
STStephanie Tennstedt
Stephanie Tennstedt
Muhammad TariqMuhammad Tariq
Muhammad Tariq
SKSheraz Khan
Sheraz Khan
HAHafiza Noor Ul Ayan
Hafiza Noor Ul Ayan
IAIlyas Ahmad
Ilyas Ahmad
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 mutant and native TNNI3K were compared by performing all-atom long-term molecular dynamics simulations, which revealed changes at the protein surface and in the hydrogen bond network. Furthermore, intra and intermolecular interaction analyses revealed that p.Ser511Pro causes structural variation in the ATP-binding pocket and the homodimer interface. These findings suggest p.Ser511Pro to be a pathogenic variant. Our study provides insights into how the variant perturbs the TNNI3K structure-function relationship, leading to a disease state. This is the first report of a recessive mutation in TNNI3K and the first mutation in this gene identified in the Pakistani population.

1 December 2021 in Journal of Clinical Neuroscience
Verified
Journal Article
Closed access
SZShumaila Zulfiqar
Shumaila Zulfiqar
Muhammad TariqMuhammad Tariq
Muhammad Tariq
SRShafaq Ramzan
Shafaq Ramzan
AKAyaz Khan
Ayaz Khan
MSMuhammad Sher
Muhammad Sher
Shahid Mahmood BaigShahid Mahmood Baig
Shahid Mahmood Baig