14 publication(s) trouvée(s)
Article scientifique
Unlocking Ethiopia’s genomic landscape and its global significance: a call for inclusive genomics research
Ethiopia, located at the intersection of Africa and Eurasia, is a hub of human genetic diversity and cultural richness. Its …
Article scientifique
Insights into the tripartite relationship between cervical cancer, human papillomavirus, and the vaginal microbiome: a mega-analysis
BACKGROUND: Cervical cancer (CC) is the fourth most prevalent malignancy among women worldwide, where 99.7% of the cases are linked …
Article scientifique
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients
BACKGROUND: Familial Hypercholesterolemia (FH) is a major risk factor for premature Coronary Artery Disease (CAD). Genetic testing is the gold …
Article scientifique
Study of adiponectin gene (rs1501299) polymorphism and serum adiponectin level in patients with primary knee osteoarthritis
BACKGROUND: We aimed to study, for the first time in the Egyptian population, the relationship between the serum adiponectin level …
Article scientifique
Meta-analysis of the global distribution of clinically relevant CYP2C8 alleles and their inferred functional consequences
BACKGROUND: CYP2C8 is responsible for the metabolism of 5% of clinically prescribed drugs, including antimalarials, anti-cancer and anti-inflammatory drugs. Genetic …
Article scientifique
Altered expression of serum lncRNA CASC2 and miRNA-21-5p in COVID-19 patients
Infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19) has a high incidence of …
Article scientifique
Genetic mutations in HER2-positive breast cancer: possible association with response to trastuzumab therapy
BACKGROUND: HER2-positive breast cancer occurs in 15-20% of breast cancer patients and is characterized by poor prognosis. Trastuzumab is considered …
Article scientifique
Genetic polymorphisms of Vascular Endothelial Growth Factor (VEGF) associated with endometriosis in Nigerian women
OBJECTIVE: To determine if genetic polymorphism of VEGF is associated with the development of endometriosis in Nigerian women. STUDY DESIGN: …
Article scientifique
Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso
BACKGROUND: Breast cancer (BC) is the most commonly diagnosed cancer and the second leading cause of cancer-related deaths among women …
Article scientifique
Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene
BACKGROUND: Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis …
Article scientifique
Regulatory VCAN polymorphism is associated with shoulder pain and disability in breast cancer survivors
BACKGROUND AND PURPOSE: Shoulder morbidity following breast cancer treatment is multifactorial. Despite several treatment- and patient-related factors being implicated, unexplained …
Article scientifique
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community
BACKGROUND: In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame …
Article scientifique
Including all voices in international data-sharing governance
BACKGROUND: Governments, funding bodies, institutions, and publishers have developed a number of strategies to encourage researchers to facilitate access to …
Article scientifique
Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti
BACKGROUND: Lymphedema (LE) is a chronic clinical manifestation of filarial nematode infections characterized by lymphatic dysfunction and subsequent accumulation of …