Browsing by Author "Fakhro, Khalid A."

Now showing items 1-4 of 4

    • Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model 

      Da'as, Sahar I.; Yalcin, Huseyin C.; Nasrallah, Gheyath K.; Mohamed, Iman A.; Nomikos, Michail; ... more authors ( Wiley , 2020 , Article)
      © 2020 Wiley Periodicals, Inc. Myosin-binding protein C 3 (MYBPC3) variants are the most common cause of hypertrophic cardiomyopathy (HCM). HCM is a complex cardiac disorder due to its significant genetic and clinical ...

    • The QChip1 knowledgebase and microarray for precision medicine in Qatar 

      Rodriguez-Flores, Juan L.; Messai-Badji, Radja; Robay, Amal; Temanni, Ramzi; Syed, Najeeb; ... more authors ( Nature Research , 2022 , Article)
      Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop "QChip1," an inexpensive ...

    • Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes 

      Razali, Rozaimi Mohamad; Rodriguez-Flores, Juan; Ghorbani, Mohammadmersad; Naeem, Haroon; Aamer, Waleed; ... more authors ( Nature Research , 2021 , Article)
      Arab populations are largely understudied, notably their genetic structure and history. Here we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive diversity as well as genetic ancestries ...

    • Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model 

      Da’as, Sahar Isa; Hasan, Waseem; Salem, Rola; Younes, Nadine; Abdelrahman, Doua; ... more authors ( MDPI , 2022 , Article)
      Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart’s contractile machinery. To investigate ...