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Sigma-Aldrich has used the technology to generate rats with genetic defects that mimic human disease.
Lmna-/ mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic some aspects of human laminopathies.
We used Drosophila, which encodes a single SMN ortholog, survival motor neuron (Smn), to model SMA, since reduction of Smn function leads to defects that mimic the SMA pathology in humans.
Evc−/− mice exhibit bone phenotypes indicative of Ihh signaling defects that mimic the human syndrome.
Using an anti-epilepsy medicine, valproic acid, that causes birth defects that mimic autism, the Markrams found that certain networks of brain cells in the acid-treated rats were much more sensitive than normal.
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Like the p38a −/−p38b −/− double-mutant flies, the pericardial p38bDN-expressing (Dot-GAL4 > p38b DN) flies exhibited cardiac defects that mimicked those of the pericardial ROS-reduced hearts.
Ruling out glaucoma in myopic eyes often poses a diagnostic challenge because of atypical optic disc morphology and visual field defects that can mimic glaucoma.
HFM can present with life-threatening infections due to profound immunological defects that may mimic SCID.
Finally, regarding specificity, we note that hyperoxia rescued L-NAME-induced limb deficits in an animal model, limb defects that can be mimicked by eNOS knockout (Tiboni et al., 2003).
The next step will be to try to breed mice with defects in several genes that mimic the human condition even more closely.
Other potential limitations of MRU include that spatial misregistration may occur between slices if the patient is breathing freely and also that T2-weighted images may develop flow-void artifacts in urine within a dilated collecting system that mimic filling defects.
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CEO of Professional Science Editing for Scientists @ prosciediting.com