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Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity.
LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets.
A complementary approach is to use rodent models where the primary genetic event leading to tumorigenesis is already known, and then to map modifiers of disease severity through selective breeding.
Sex and age are the two main modifiers of disease risk, presentation, and treatment.
Tau haplotyping indicated that specific haplotypes of the wild-type allele may act as modifiers of disease presentation.
Although excellent for studying pathomechanisms and for very targeted therapy development and testing, murine models are not amenable to larger scale testing of potential chemical modifiers of disease.
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Implications and future directions C. elegans enables highly selective quantitative analysis across genetically invariant animal populations with statistical confidence to evaluate genetic and chemical modifiers of disease-associated readouts.
However, the SMN2 gene copy number acts as a modifier of disease severity [10], which inversely correlates with the levels of SMN expression in patients [11], [12].
In humans, the metabolic effects of ACTN3 genotype may act as a modifier of disease severity: the X allele has recently been shown to benefit exercise capacity phenotypes (i.e. aerobic capacity) in women with muscle (McArdle) disease [27].
For example, SPP1 is a known modifier of disease severity in Duchenne muscular dystrophy [ 18].
It may be a direct cause of the disease, or a modifier of disease susceptibility and severity [ 2].
More suggestions(15)
determinant of disease
causal of disease
modifiers of exposure outcome
modifiers of mtDNA
modifiers of exposure
modifiers of glaucoma
modifiers of agreement
modifiers of drug
modifiers of outcome
modifiers of pathogenesis
modifiers of periodontitis
modifiers of area-level
modifiers of lung
modifiers of polyglutamine
modifiers of recombination
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