Browsing by Subject "Genetics"
Now showing items 1-8 of 8
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ACE2 polymorphisms impact COVID-19 severity in obese patients
(2022-12)Abstract: A strong association between obesity and COVID-19 complications and a lack of prognostic factors that explain the unpredictable severity among these patients still exist despite the various vaccination programs. ... -
Deciphering the Role of Insulin-Like Growth Factor 1 in Endometrial Cancer in Patients With Polycystic Ovary Syndrome: Protocol for a Methodological Approach Using Cell Culture Experiments
(2023)Background: Endometrial cancer (EC) is the most common gynecological cancer in women globally. It is linked to increasing obesity rates and longer life spans. The molecular mechanisms leading to EC are unclear; however, ... -
Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care
(2021)Abstract: Digitalization of healthcare delivery is rapidly fostering development of precision medicine. Multiple digital technologies, known as telehealth or eHealth tools, are guiding individualized diagnosis and treatment ... -
A draft human pangenome reference
(2023)Introduction: Here the Human Pangenome Reference Consortium presents a frst draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1 . ... -
Epidemiology of combined immunodeficiencies affecting cellular and humoral immunity– a multicentric retrospective cohort study from the Arabian Peninsula
(2023)Aims: To understand the characteristics of combined immunodeficiency disorders that affect cellular and humoral immunity (CID) in the Arabian Peninsula. Methods: Retrospective study of 236 patients with CID from ... -
Genetic contributions to autism spectrum disorder
(2021)Abstract: Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental conditions characterized by early childhood-onset impairments in communication and social interaction alongside restricted and ... -
Genetic variation in the Middle East—an opportunity to advance the human genetics field
(2020)Abstract: We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible ... -
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease
(2023)Abstract: Congenital heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. To catalog the putative candidate CHD risk genes, we collected 16,349 variants [single-nucleotide variants (SNVs) and ...