Results 61 to 70 of about 1,645,811 (308)
Genetics of Spontaneous Intracerebral Hemorrhage: Risk and Outcome
Frontiers in Neuroscience, 2022 Spontaneous intracerebral hemorrhage (ICH) is a common fatal event without an effective therapy. Of note, some familial aggregation and inherited tendency is found in ICH and heritability estimates indicate that genetic variations contribute ...
Hongxiu Guo +9 more
doaj +1 more source
CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]
, 2020 The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I +2 more
core +1 more source
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Genome MedicineBackground A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants ...
Mathilde Geysens +9 more
doaj +1 more source
Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities
Frontiers in Endocrinology, 2021 Non-alcoholic fatty liver disease (NAFLD) is a continuous progression of pathophysiologic stages that is challenging to diagnose due to its inherent heterogeneity and poor standardization across a wide variety of diagnostic measures.
Xiaomi Du +4 more
doaj +1 more source
Towards the Human Genotope [PDF]
, 2006 The human genotope is the convex hull of all allele frequency vectors that can be obtained from the genotypes present in the human population. In this paper we take a few initial steps towards a description of this object, which may be fundamental for ...
Huggins, Peter +2 more
core +3 more sources
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
Flanking heterozygosity influences the relative probability of different base substitutions in humans [PDF]
Royal Society Open Science, 2019 Understanding when, where and which mutations are mostly likely to occur impacts many areas of evolutionary biology, from genetic diseases to phylogenetic reconstruction.
William Amos
doaj +1 more source
Reciprocal control of viral infection and phosphoinositide dynamics
FEBS Letters, EarlyView.Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley +1 more source
The FAIR data point populator: collaborative FAIRification and population of FAIR data points
BMC Medical Informatics and Decision MakingBackground Use of the FAIR principles (Findable, Accessible, Interoperable and Reusable) allows the rapidly growing number of biomedical datasets to be optimally (re)used. An important aspect of the FAIR principles is metadata.
Daphne Wijnbergen +6 more
doaj +1 more source