Browsing by Author "n 2012188483"

Now showing items 1-10 of 10

    • Actionable genomic variants in 6045 participants from the Qatar Genome Program 

      Elfatih, Amal; Mifsud, Borbala; Syed, Najeeb; Badii, Ramin; Mbarek, Hamdi; ... more authors (2021 , Article)
      In a clinical setting, DNA sequencing can uncover findings unrelated to the purpose of genetic evaluation. The American College of Medical Genetics and Genomics (ACMG) recommends the evaluation and reporting of 59 genes ...

    • Genome-Wide Association Study Reveals a Novel Association Between MYBPC3 Gene Polymorphism, Endurance Athlete Status, Aerobic Capacity and Steroid Metabolism. 

      Al-Khelaifi, Fatima; Yousri, Noha A; Diboun, Ilhame; Semenova, Ekaterina A; Kostryukova, Elena S; ... more authors ( Frontiers Media , 2020 , Article)
      The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate ...

    • Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects. 

      Zaghlool, Shaza B; Al-Shafai, Mashael; Al Muftah, Wadha A; Kumar, Pankaj; Gieger, Christian; ... more authors ( BioMed Central , 2016 , Article)
      Environmentally influenced phenotypes, such as obesity and insulin resistance, can be transmitted over multiple generations. Epigenetic modifications, such as methylation of DNA cytosine-guanine (CpG) pairs, may be carriers ...

    • Metabolic profiling of elite athletes with different cardiovascular demand 

      Al-Khelaifi, Fatima; Donati, Francesco; Botrè, Francesco; Latiff, Aishah; Abraham, David; ... more authors ( John Wiley & Sons Ltd , 2019 , Article)
      Intensive exercise of elite athletes can lead to physiological alterations in the cardiovascular system in response to increased stroke volume and blood pressure, known collectively as cardiovascular demand (CD). This study ...

    • PopPAnTe: population and pedigree association testing for quantitative data. 

      Visconti, Alessia; Al-Shafai, Mashael; Al Muftah, Wadha A; Zaghlool, Shaza B; Mangino, Massimo; ... more authors ( BioMed Central , 2017 , Article)
      Family-based designs, from twin studies to isolated populations with their complex genealogical data, are a valuable resource for genetic studies of heritable molecular biomarkers. Existing software for family-based studies ...

    • Qatar genome: Insights on genomics from the Middle East 

      Mbarek, Hamdi; Devadoss Gandhi, Geethanjali; Selvaraj, Senthil; Al-Muftah, Wadha; Badji, Radja; ... more authors ( Wiley , 2022 , Article)
      Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we ...

    • Signal transducer and activator of transcription 3 (Stat3) suppresses stat1/interferon signaling pathway and inflammation in senescent preadipocytes 

      Madani, Aisha Y.; Majeed, Yasser; Abdesselem, Houari B.; Agha, Maha V.; Vakayil, Muneera; ... more authors ( MDPI , 2021 , Article)
      © 2021 by the authors. Licensee MDPI, Basel, Switzerland. Obesity promotes premature aging and dysfunction of white adipose tissue (WAT) through the accumulation of cellular senescence. The senescent cells burden in WAT ...

    • Signal Transducer and Activator of Transcription 3 (STAT3) Suppresses STAT1/Interferon Signaling Pathway and Inflammation in Senescent Preadipocytes. 

      Madani, Aisha Y; Majeed, Yasser; Abdesselem, Houari B; Agha, Maha V; Vakayil, Muneera; ... more authors ( MDPI , 2021 , Article)
      Obesity promotes premature aging and dysfunction of white adipose tissue (WAT) through the accumulation of cellular senescence. The senescent cells burden in WAT has been linked to inflammation, insulin-resistance (IR), ...

    • 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 ...

    • Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits 

      Thareja, Gaurav; Al-Sarraj, Yasser; Belkadi, Aziz; Almotawa, Maryam; Ismail, Said; ... more authors ( Springer Nature , 2021 , Article)
      Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits ...