Results 21 to 30 of about 10,086,238 (407)

Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes

open access: yesScientific Reports, 2021
Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein   +8 more
doaj   +1 more source

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs

open access: yeseLife, 2023
Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal   +3 more
doaj   +1 more source

Genotoxicity of 22% Carbamide Peroxide Bleaching Agent on Oral Cells using the Micronucleus Technique [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2020
Introduction: Several bleaching products and methods were introduced over the last years. However, the consequences of 22% carbamide peroxide on the genetic material of oral mucosal cells is uncertain.
Laís Vargas Bonacina   +7 more
doaj   +1 more source

Tinea Imbricata among the Indigenous Communities: Current Global Epidemiology and Research Gaps Associated with Host Genetics and Skin Microbiota

open access: yesJournal of Fungi, 2022
Tinea imbricata is a unique fungal skin disease that mostly affects indigenous populations in Southeast Asia, Oceania, and Central and South America. The control and management of this disease among these communities are challenging given their remote ...
Yi Xian Er   +7 more
doaj   +1 more source

DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome

open access: yesBMC Neurology, 2022
Background Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest.
Andy Devereux-Cooke   +27 more
doaj   +1 more source

Congenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics

open access: yesFrontiers in Cardiovascular Medicine, 2023
Congenital aortic valve stenosis (AVS) is one of the most common valve anomalies and accounts for 3%–6% of cardiac malformations. As congenital AVS is often progressive, many patients, both children and adults, require transcatheter or surgical ...
Jun Yasuhara   +8 more
doaj   +1 more source

Human Genetic Research in Pakistan: Challenges and Way forward

open access: yesLife and Science, 2021
The 90s ushered in the era of molecular genetics in Pakistan. Our centuries’ old tradition of consanguineous marriages, resulting in the availability of large, inbred families with inherited disorders, proved to be a goldmine for geneticists, working to ...
Syed Muhammad Imran Majeed   +1 more
doaj   +1 more source

Human genetics and malaria resistance

open access: yesHuman Genetics, 2020
Malaria has been the pre-eminent cause of early mortality in many parts of the world throughout much of the last five thousand years and, as a result, it is the strongest force for selective pressure on the human genome yet described. Around one third of
S. Kariuki, T. Williams
semanticscholar   +1 more source

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

open access: yesEuropean Journal of Human Genetics, 2020
If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be
G. de Wert   +17 more
semanticscholar   +1 more source

Human genetics of meningococcal infections

open access: yesHuman Genetics, 2020
Neisseria meningitidis is a leading cause of bacterial septicaemia and meningitis worldwide. Meningococcal disease is rare but can be life threatening with a tendency to affect children.
Stephanie Hodeib   +3 more
semanticscholar   +1 more source

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