FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4206674094> ?p ?o ?g. }

• W4206674094 endingPage "182" @default.
• W4206674094 startingPage "176" @default.
• W4206674094 abstract "A range of recent cutting-edge genetic, genomic, and epigenetic investigations have greatly increased our knowledge of the DNA polymorphisms, regulatory elements, genes, proteins, pathways, and cellular mechanisms that are key to osteoarthritis development. We are now at the point where we can say, with a reasonable degree of confidence, how genetic susceptibility alters gene activity to impact on joint tissue homeostasis in this disease. From these recent discoveries, a large number of causal genes have been reported, and from amongst them, many have been identified that could be targets of known therapeutic drugs, creating exciting repurposing opportunities. Studies have also informed us that at least a proportion of osteoarthritis genetic risk is programmed during skeletogenesis. As such, the timing of an intervention may become the critical factor for a therapeutic’s efficacy. The ultimate goal of molecular genetic studies of human diseases is to translate the discoveries for patient benefit. For diseases that lack licensed disease-modifying therapeutics, such as osteoarthritis (OA), the need is acute. OA is polygenic and affects older individuals, with a recent genome-wide study of over 800 000 individuals adding 52 novel association signals to those already reported on for this common arthritis. Many of the predicted effector genes of these signals encode proteins that are targets of drugs for other indications, highlighting repurposing opportunities. Here, the potential for OA genetic data to translate is discussed, including whether the developmental origin of OA will limit the application of genetic risk data for disease-modification purposes. The ultimate goal of molecular genetic studies of human diseases is to translate the discoveries for patient benefit. For diseases that lack licensed disease-modifying therapeutics, such as osteoarthritis (OA), the need is acute. OA is polygenic and affects older individuals, with a recent genome-wide study of over 800 000 individuals adding 52 novel association signals to those already reported on for this common arthritis. Many of the predicted effector genes of these signals encode proteins that are targets of drugs for other indications, highlighting repurposing opportunities. Here, the potential for OA genetic data to translate is discussed, including whether the developmental origin of OA will limit the application of genetic risk data for disease-modification purposes. metabolic process of tissue creation. DNA polymorphism has a positive effect (usually evolutionarily selectable) on one phenotype but a negative effect on another (often an age-related phenotype). assessing whether the proteins implicated in a phenotype are functioning in particular cellular pathways, such as the cell cycle or immune response. an entity that monitors phenotype progression to assess efficacy of an intervention; in OA, biomarkers include fragments of cartilage ECM molecules circulating in the blood. metabolic process involving tissue destruction. the polymorphism that directly alters activity or function of a gene or protein and is responsible for the association signal. DNA sequence that regulates expression of a nearby gene. drug that alters the course of the disease by halting or reversing its progression. molecule elicits different cellular responses according to its molar amount; could be anabolic at low levels, catabolic at high levels. gene that is impacted on by the causal DNA polymorphism. DNA sequence that physically loops to the promoter of a gene to increase its expression. analyzing epigenetic effects (DNA methylation, histone modifications, regulatory RNAs) across the whole genome. expression of a gene correlates with genotype of a DNA polymorphism. space between the cells of a tissue, organically consisting of collagens, proteoglycans, and other molecules, including growth factors. how genes and the non-gene regions of the genome contribute to biological processes. random change in the frequency of a DNA polymorphism in a population. organism's complete set of DNA (i.e., nuclear and mitochondrial in eukaryotes). assessing which DNA polymorphisms across the whole genome correlate with a phenotype. investigating all of an organism’s genome. investigating a discreet part of the genome and the genes, non-gene regions, and polymorphisms within it. skeleton, joints, and associated tissues, such as muscle and cartilage. protein responsible for growth and survival of nerve cells. statistical measure of the strength of association between a DNA polymorphism and a phenotype. joint area where articular cartilage transitions to underlying bone. the interaction of many common DNA polymorphisms that have low individual but large combined effects on phenotype. estimate of the effect of multiple DNA polymorphisms on the risk of an individual developing a particular phenotype. substitution of a single nucleotide at a specific genomic position. identifying the most likely causal DNA polymorphism from those it correlates with due to genetic linkage." @default.
• W4206674094 created "2022-01-25" @default.
• W4206674094 creator A5014881005 @default.
• W4206674094 date "2022-03-01" @default.
• W4206674094 modified "2023-10-16" @default.
• W4206674094 title "Translating osteoarthritis genetics research: challenging times ahead" @default.
• W4206674094 cites W1965665343 @default.
• W4206674094 cites W1981785965 @default.
• W4206674094 cites W2006433730 @default.
• W4206674094 cites W2019946901 @default.
• W4206674094 cites W2052853106 @default.
• W4206674094 cites W2065587003 @default.
• W4206674094 cites W2118822739 @default.
• W4206674094 cites W2143282831 @default.
• W4206674094 cites W2395594709 @default.
• W4206674094 cites W2584333792 @default.
• W4206674094 cites W2609827893 @default.
• W4206674094 cites W2751443010 @default.
• W4206674094 cites W2751501426 @default.
• W4206674094 cites W2801470635 @default.
• W4206674094 cites W2801878099 @default.
• W4206674094 cites W2883663896 @default.
• W4206674094 cites W2890019273 @default.
• W4206674094 cites W2908918388 @default.
• W4206674094 cites W2912069300 @default.
• W4206674094 cites W2915054923 @default.
• W4206674094 cites W2949289642 @default.
• W4206674094 cites W2951276412 @default.
• W4206674094 cites W2951845986 @default.
• W4206674094 cites W2969431316 @default.
• W4206674094 cites W2972593257 @default.
• W4206674094 cites W2981765165 @default.
• W4206674094 cites W2996386231 @default.
• W4206674094 cites W3006764495 @default.
• W4206674094 cites W3013790276 @default.
• W4206674094 cites W3015291397 @default.
• W4206674094 cites W3024907164 @default.
• W4206674094 cites W3025683076 @default.
• W4206674094 cites W3047611791 @default.
• W4206674094 cites W3099931367 @default.
• W4206674094 cites W3100923976 @default.
• W4206674094 cites W3108418196 @default.
• W4206674094 cites W3125292595 @default.
• W4206674094 cites W3128653999 @default.
• W4206674094 cites W3132471123 @default.
• W4206674094 cites W3136714501 @default.
• W4206674094 cites W3138527795 @default.
• W4206674094 cites W3138613518 @default.
• W4206674094 cites W3156388316 @default.
• W4206674094 cites W3159587614 @default.
• W4206674094 cites W3162666314 @default.
• W4206674094 cites W3176583412 @default.
• W4206674094 cites W3177799989 @default.
• W4206674094 cites W3179518327 @default.
• W4206674094 cites W3180056648 @default.
• W4206674094 cites W3193839790 @default.
• W4206674094 cites W3193910581 @default.
• W4206674094 cites W3194108800 @default.
• W4206674094 cites W3194762379 @default.
• W4206674094 cites W3195375639 @default.
• W4206674094 cites W3195630708 @default.
• W4206674094 cites W3195951437 @default.
• W4206674094 cites W3197325932 @default.
• W4206674094 cites W3197326543 @default.
• W4206674094 cites W3198661698 @default.
• W4206674094 cites W3200594527 @default.
• W4206674094 cites W3201444946 @default.
• W4206674094 cites W3203899692 @default.
• W4206674094 cites W3208534178 @default.
• W4206674094 cites W3209913774 @default.
• W4206674094 cites W3210597398 @default.
• W4206674094 cites W3217563678 @default.
• W4206674094 cites W4211039015 @default.
• W4206674094 cites W4211067786 @default.
• W4206674094 doi "https://doi.org/10.1016/j.molmed.2021.12.007" @default.
• W4206674094 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35033441" @default.
• W4206674094 hasPublicationYear "2022" @default.
• W4206674094 type Work @default.
• W4206674094 citedByCount "8" @default.
• W4206674094 countsByYear W42066740942022 @default.
• W4206674094 countsByYear W42066740942023 @default.
• W4206674094 crossrefType "journal-article" @default.
• W4206674094 hasAuthorship W4206674094A5014881005 @default.
• W4206674094 hasConcept C103637391 @default.
• W4206674094 hasConcept C104317684 @default.
• W4206674094 hasConcept C106208931 @default.
• W4206674094 hasConcept C135763542 @default.
• W4206674094 hasConcept C142724271 @default.
• W4206674094 hasConcept C153209595 @default.
• W4206674094 hasConcept C170734499 @default.
• W4206674094 hasConcept C18903297 @default.
• W4206674094 hasConcept C203014093 @default.
• W4206674094 hasConcept C204787440 @default.
• W4206674094 hasConcept C2776164576 @default.
• W4206674094 hasConcept C2777077863 @default.
• W4206674094 hasConcept C2779134260 @default.
• W4206674094 hasConcept C2780035454 @default.
• W4206674094 hasConcept C41091548 @default.

• next