Results 61 to 70 of about 13,340,828 (402)
Biomedicines, 2021 Endothelial progenitor cells (EPC), which are key effectors in the physiologic vascular network, have been described as relevant players in autoimmune diseases.
Verónica Pulito-Cueto +15 more
doaj +1 more source
A dynamic network approach for the study of human phenotypes [PDF]
, 2009 The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases.
A Barrat +35 more
core +5 more sources
FinnGen provides genetic insights from a well-phenotyped isolated population
Nature, 2023 Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki +167 more
semanticscholar +1 more source
Genetics of Parkinson's disease
Dialogues in Clinical Neuroscience, 1998 A genetic contribution to the etiology of Parkinson's disease (PD) is now well established, based on the demonstration of a familial aggregation of the disease as demonstrated by several case–control and twin studies, and on the description of large multigenerational families, in whom PD is inherited in a Mendelian fashion.
openaire +11 more sources
The genetic basis of disease [PDF]
Essays in Biochemistry, 2018 Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal
Jackson, Maria +3 more
openaire +3 more sources
Annual Review of Pathology: Mechanisms of Disease, 2021 Genetic diseases cause numerous complex and intractable pathologies. DNA sequences encoding each human's complexity and many disease risks are contained in the mitochondrial genome, nuclear genome, and microbial metagenome. Diagnosis of these diseases has unified around applications of next-generation DNA sequencing.
Roth, Theodore L, Marson, Alexander
openaire +5 more sources
Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]
Childhood Kidney DiseasesWith the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
doaj +1 more source
Disease-specific, neurosphere-derived cells as models for brain disorders [PDF]
, 2010 There is a pressing need for patient-derived cell models of brain diseases that are relevant and robust enough to produce the large quantities of cells required for molecular and functional analyses.
Abrahamsen, G. +29 more
core +1 more source
Moving in the Dark: Enlightening the Spatial Population Ecology of European Cave Salamanders
Population Ecology, EarlyView.We assessed individual interactions, movement ecology and activity patterns of a subterranean population of Speleomantes strinatii, applying spatial capture–recapture modeling to a photographic dataset of 104 individuals. ABSTRACT Space use and movement are fundamental aspects of organisms' ecology, mirroring individual fitness, behavior, and life ...
Giacomo Rosa +2 more
wiley +1 more source
New insight into genetic disease : the role of trinucleotide repeat expansions [PDF]
, 1995 The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991.
Cuschieri, Alfred
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