Results 31 to 40 of about 10,524,108 (363)
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
BioMed Research International, 2015 There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng +5 more
openaire +2 more sources
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
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
Genetics of human obesity [PDF]
Comptes Rendus. Biologies, 2005 We present the knowledge acquired in the field of the genetics of human obesity. The molecular approach proved to be powerful to define new syndromes associated to obesity. The pivotal role of leptin and melanocortin pathways were recognized but in rare obesity cases.
openaire +4 more sources
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
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
Genetics of human hydrocephalus [PDF]
Journal of Neurology, 2006 Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired.
Zhang, Jun +2 more
openaire +2 more sources
Frontiers in Cardiovascular Medicine, 2021 Congenital heart disease (CHD) is the most common type of birth defect, affecting ~1% of all live births. Malformations of the cardiac outflow tract (OFT) account for ~30% of all CHD and include a range of CHDs from bicuspid aortic valve (BAV) to ...
Adrianna Matos-Nieves +9 more
doaj +1 more source
The sociopolitical in human genetics education
ScienceEducation must go beyond only countering essentialist and deterministic views of genetics Biological and genetics research has established that racial categories have no biological or genetic basis.
R. Duncan +10 more
semanticscholar +1 more source