Results 21 to 30 of about 2,438,030 (324)
The senescence-associated secretory phenotype: the dark side of tumor suppression.
Annual Review of Pathology, 2010 Cellular senescence is a tumor-suppressive mechanism that permanently arrests cells at risk for malignant transformation. However, accumulating evidence shows that senescent cells can have deleterious effects on the tissue microenvironment.
Jean-Philippe Coppé +3 more
semanticscholar +1 more source
The Human Phenotype Ontology in 2021
Nucleic Acids Res., 2020 The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease.
Sebastian Köhler +50 more
semanticscholar +1 more source
Channels, 2022 Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle.
Yifan Li +8 more
doaj +1 more source
Frontiers in Genetics, 2021 PurposeRPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectrum and associated phenotype based on the data from our
Junxing Yang +7 more
doaj +1 more source
PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations
Bioinform., 2019 Summary PhenoScanner is a curated database of publicly available results from large-scale genetic association studies in humans. This online tool facilitates ‘phenome scans’, where genetic variants are cross-referenced for association with many ...
M. Kamat +7 more
semanticscholar +1 more source
ClinVar: public archive of relationships among sequence variation and human phenotype
Nucleic Acids Res., 2013 ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes.
M. Landrum +6 more
semanticscholar +1 more source
Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data
Nature Biotechnology, 2021 Bulk and single cell measurements are integrated to identify phenotype-associated subpopulations of cells. Single-cell RNA sequencing (scRNA-seq) distinguishes cell types, states and lineages within the context of heterogeneous tissues.
Duanchen Sun +11 more
semanticscholar +1 more source
The Female Autism Phenotype and Camouflaging: a Narrative Review
Review Journal of Autism and Developmental Disorders, 2020 Autism is more commonly diagnosed in males than females. One explanation is the ‘female protective effect’: there is something inherent in being female which reduces the likelihood of developing autism.
Laura Hull, K. Petrides, W. Mandy
semanticscholar +1 more source
Frontiers in Ecology and Evolution, 2021 Populations are permanently evolving and their evolution will influence their survival and reproduction, which will then alter demographic parameters.
Jorge E. Rabinovich
doaj +1 more source
Causal graphical models in systems genetics: A unified framework for joint inference of causal network and genetic architecture for correlated phenotypes [PDF]
Annals of Applied Statistics 2010, Vol. 4, No. 1, 320-339, 2010 Causal inference approaches in systems genetics exploit quantitative trait loci (QTL) genotypes to infer causal relationships among phenotypes. The genetic architecture of each phenotype may be complex, and poorly estimated genetic architectures may compromise the inference of causal relationships among phenotypes.
arxiv +1 more source