Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels acr...
Neuroinflammation and microglial activation in Alzheimer disease: where do we go from here? Nat. Rev. Neurol. 17, 157–172 (2021). Article PubMed Google Scholar Stephenson, J. et al. Inflammation in CNS neurodegenerative diseases. Immunology 154, 204–219 (2018). Article PubMed PubMed ...
A growing body of evidence suggests that dysbiosis of the human gut microbiota is associated with neurodegenerative diseases like Alzheimer’s disease (AD) via neuroinflammatory processes across the microbiota-gut-brain axis. The gut microbiota affects b
June 26 2000 — the Human Genome(基因组) Project a great $3 billion 15-year task aimed at drawing the genetic(遗传的) map of humans is now more than 90 percent completed. The scientific and medical communities are very excited about the chances genetic research provides for getting rid of...
we’re more prone to chronic diseases such as cancer, Alzheimer’s and diabetes — and the older we get, the more likely we are to die each year. “You live, and by living you produce negative consequences like molecular damage. This damage accumulates over time,” says ...
Genetic Studies of Immunological Diseases in Dogs and HumansMatteo Bianchi
The genetic architecture of common diseases is central to the scientific and clinical goals of human genetics because it directly impacts biology, disease screening, diagnosis, prognosis and treatment. Genetic architecture is currently assessed by exploiting the differences in types of genetic variants asc...
Human genetic disease is any of the diseases and disorders that are caused by mutations in one or more genes of the human genome.
experience discomfort in bright sunlight. In the offspring of consanguineous unions, specific genetic effects of this nature are appreciable only in rarehereditarydiseases; the rarer the occurrence of a disorder, the more frequently the parents are found to be consanguineous....
4.3. The Role of Recessive Mutations in “Susceptibility” Genes The CACNA1H gene encodes the pore-forming α1 subunit of the T-type calcium channel isoform Cav3.2. Despite having been reported animal models carrying Cacna1h mutations that cosegregate with epilepsy phenotypes [63], in humans he...