Results 31 to 40 of about 10,288,978 (312)
HGG Advances, 2023 Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo +15 more
doaj +1 more source
Human genetics of meningococcal infections
Human 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
BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
Molecular Genetics & Genomic Medicine, 2021 Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes.
Marcin Bednarek +16 more
doaj +1 more source
Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank
medRxiv, 2020 The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a unique private/public partnership between the UK Biobank and eight biopharma companies that will sequence the exomes of all ~500,000 UK Biobank participants.
J. Szustakowski +38 more
semanticscholar +1 more source
Stem Cell Research, 2017 The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann +9 more
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Leveraging Human Genetics to Identify Potential New Treatments for Fatty Liver Disease.
Cell Metabolism, 2020 Fatty liver disease (FLD), including its more severe pathologies, namely steatohepatitis, hepatocarcinoma, and cirrhosis, is the most common cause of chronic liver disease worldwide and is projected to become the leading cause of hepatocellular carcinoma
S. Romeo, A. Sanyal, Luca Valenti
semanticscholar +1 more source
Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
eLife, 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
Next-generation drug repurposing using human genetics and network biology.
Current opinion in pharmacology (Print), 2020 Drug repurposing has attracted increased attention, especially in the context of drug discovery rates that remain too low despite a recent wave of approvals for biological therapeutics (e.g. gene therapy).
Serguei Nabirotchkin +5 more
semanticscholar +1 more source
Frontiers in Genetics, 2022 Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza +11 more
doaj +1 more source
Human genetics of leishmania infections
Human Genetics, 2020 Identifying genetic risk factors for parasitic infections such as the leishmaniases could provide important leads for improved therapies and vaccines.
J. Blackwell +2 more
semanticscholar +1 more source