Browsing College of Health Sciences by Subject "Genotype-phenotype correlation"
Now showing items 1-9 of 9
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Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme
( Springer US , 2017 , Article)Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development ... -
Genetic Epidemiology of Beta-Thalassemia in the Maldives: 23 years of a Beta-Thalassemia Screening Program.
( Elsevier , 2020 , Article)The Maldives is an archipelago of 407,660 people according to population census of 2014, made up of 20 atolls, which has one of the highest prevalence of β-thalassemia worldwide. However, there is a dearth of studies related ... -
Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
( Elsevier , 2019 , Article)Ovarian cancer (OC) is a common disease among Arabs, with one of the highest incidences in the world. OC is underdiagnosed, underreported, and mostly reported with breast cancer. This study aimed to conduct a systematic ... -
Genetic Epidemiology of Type 1 Diabetes in the 22 Arab Countries.
( Current Medicine Group , 2016 , Article)Type 1 diabetes (T1D) is a complex autoimmune disorder that results from the T cell-mediated destruction of the pancreatic β cells and is due to interactions between environmental and genetic factors. Although Arabs have ... -
Genetic Variants Associated With Alzheimer Disease in the 22 Arab Countries: A Systematic Review.
( Lippincott, Williams & Wilkins , 2021 , Article)Alzheimer disease (AD) is a progressive and complex neurodegenerative disease. Approximately 70% of AD risk is attributed to genetic risk factors, including variants in amyloid precursor protein (APP), presenilin 1 (PSEN1), ... -
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
( Springer US , 2017 , Article)Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH). Patients with GAI are characterized by macrocephaly, acute encephalitis-like crises, ... -
Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
( Elsevier , 2020 , Article)Propionic Acidemia (PA) is an inborn error of metabolism caused by variants in the or genes, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here, we report a 2 year-old Egyptian boy with PA ... -
Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.
( Elsevier , 2018 , Article)Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis ... -
Structural modeling of p.V31F variant in the aspartoacylase gene.
( Springer Verlag , 2016 , Article)Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain ...