Browsing by Author "Al-Shafai, Mashael"

Now showing items 1-19 of 19

    • A population study of clinically actionable genetic variation affecting drug response from the Middle East 

      Jithesh, Puthen Veettil; Abuhaliqa, Mohammed; Syed, Najeeb; Ahmed, Ikhlak; El Anbari, Mohammed; ... more authors ( Nature Research , 2022 , Article)
      Clinical implementation of pharmacogenomics will help in personalizing drug prescriptions and alleviate the personal and financial burden due to inefficacy and adverse reactions to drugs. However, such implementation is ...

    • Association of Vitamin D Genetic Risk Score with Noncommunicable Diseases: A Systematic Review 

      Almaghrbi, Heba; Al-Shafai, Mashael; Al-Asmakh, Maha; Bawadi, Hiba ( MDPI , 2023 , Article)
      Background and Aims: The genetic risk score (GRS) is an important tool for estimating the total genetic contribution or susceptibility to a certain outcome of interest in an individual, taking into account their genetic ...

    • Effect of Water-Pipe Smoking on the Normal Development of Zebrafish 

      Zakaria, Zain Zaki; Aladwi, Shaima Ahmad; Benslimane, Fatiha; Al-Absi, Enas S.; Al-Shafai, Mashael; ... more authors ( MDPI , 2021 , Article)
      Background: Among all types of tobacco consumption,Water-Pipe Smoking (WPS) is the most widely used in the Middle East and second-most in several other countries. The effect of WPS on normal development is not yet fully ...

    • Empower Generations: Longitudinal Study for National Capacities in Life Sciences and Healthcare 

      Althani, Asmaa Ali J.F.; Abu-El-Ruz, Rasha; Kurdi, Rana Mahmoud; Almeer, Naiema Hashem M.A.; Al-Ajli, Farooq Omar Maan; ... more authors (2021 , Article)
      Background: The decrease in the number of adolescents showing genuine interest in the fields of healthcare has been one of the recent concerns worldwide. A plethora of studies have discussed the factors that influence ...

    • The genetic elucidation of monogenic obesity in the Arab world: a systematic review 

      Abouhashem, Nadien; Al-Shafai, Kholoud; Al-Shafai, Mashael ( J Pediatr Endocrinol Metab , 2022 , Article)
      Background: Investigation of monogenic obesity (MO), a rare condition caused by a single gene variant(s), especially in consanguineous populations, is a powerful approach for obtaining novel insights into the genetic ...

    • Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review 

      Kohil, Amira; Abdallah, Atiyeh M.; Hussain, Khalid; Al-Shafai, Mashael ( BioMed Central Ltd , 2023 , Article Review)
      Background: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematically ...

    • The Interplay Between Diet and the Epigenome in the Pathogenesis of Type-1 Diabetes 

      Kohil, Amira; Al-Asmakh, Maha; Al-Shafai, Mashael; Terranegra, Annalisa ( Frontiers , 2021 , Article Review)
      The autoimmune disease, Type 1 Diabetes Mellitus (T1DM), results in the destruction of pancreatic β-cells, and the International Diabetes Federation reports that its incidence is increasing worldwide. T1DM is a complex ...

    • Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry 

      Okashah, Sarah; Vasudeva, Dhanya; El Jerbi, Aya; Khodjet-El-khil, Houssein; Al-Shafai, Mashael; ... more authors ( Multidisciplinary Digital Publishing Institute (MDPI) , 2022 , Article)
      Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal ...

    • Knowledge and Perception of and Attitude toward a Premarital Screening Program in Qatar: A Cross-Sectional Study 

      Al-Shafai, Mashael; Al-Romaihi, Aisha; Al-Hajri, Noora; Islam, Nazmul; Adawi, Karam ( MDPI , 2022 , Article)
      Premarital screening (PMS) is a primary preventive measure to decrease the incidence of certain genetic disorders and sexually transmitted diseases. This study aimed to explore the knowledge and perception of and the ...

    • Legal approaches to risk of harm in genetic counseling: perspectives from Quebec and Qatar 

      Patrinos, Dimitri; Ghaly, Mohammed; Al-Shafai, Mashael; Zawati, Ma’n H. ( Frontiers Media SA , 2023 , Article)
      Genetic counseling is a fast-growing profession worldwide, with genetic counselors taking on increasingly comprehensive and autonomous roles in the healthcare sector. However, the absence of appropriate legal frameworks ...

    • 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 ...

    • 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 ...

    • The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity 

      Alaa, Abbas; Hammad, Ayat S; Al-Shafai, Mashael ( Elsevier , 2023 , Article)
      BackgroundGNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gsα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse ...

    • Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population 

      Malik, Shaza; Zaied, Roan; Syed, Najeeb; Jithesh, Puthen; Al-Shafai, Mashael ( BioMed Central Ltd , 2021 , Article)
      Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the ...

    • The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries. 

      Malik, Shaza D; Al-Shafai, Mashael; Abdallah, Atiyeh M ( MDPI , 2022 , Article Review)
      Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized ...

    • THE MICROBIOME AND EPIGENOME PROFILE IN PEDIATRIC TYPE 1 DIABETES IN QATAR 

      Bakhash, Rama Bakhash; Sulaiman, Farzana; Al-Shafai, Mashael; Terranegra, Annalisa ( Qatar University Press , 2020 , Poster)
      This study focused on Qatar's pediatric population that has witnessed a steep increase in the incidence of the disease. In order to understand this, we analyzed the blood and stool samples of a pilot group of 21 T1D subjects ...

    • THE ROLE OF NUTRITIONAL STATUS AS AN EPIGENETIC MODULATOR IN TYPE 1 DIABETES IN PEDIATRIC POPULATION OF QATAR 

      KOHIL, AMIRA (2021 , Master Thesis)
      Type 1 Diabetes Mellites (T1DM), is an autoimmune disorder caused by the destruction of pancreatic b?-cells and is considered to be among the most prevalent chronic conditions in Qatar. This study aimed to identify the ...

    • The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar 

      Abouhashem, Nadien; Zaied, Roan E.; Al-Shafai, Kholoud; Nofal, Mariam; Syed, Najeeb; ... more authors ( S. Karger AG , 2022 , Article)
      Introduction: Monogenic obesity (MO) is a rare genetic disease characterized by severe early-onset obesity in affected individuals. Previous genetic studies revealed 8 definitive genes for monogenic non-syndromic obesity; ...

    • Understanding the genetics of early onset obesity in a cohort of children from Qatar. 

      Mohammed, Idris; Haris, Basma; Al-Barazenji, Tara; Vasudeva, Dhanya; Tomei, Sara; ... more authors ( Oxford University Press , 2023 , Article)
      Monogenic obesity is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early onset obesity. Mutations in the genes ...