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These results indicated that the mutant phenotype should be caused by the abnormal function of REL2 protein.
A typical example of presynaptic disorder leading to the clinical picture of AN is that caused by the abnormal function of otoferlin.
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Resistance of brain tumors to therapy may in part be caused by the abnormal functioning of tumor vasculature caused by pathological changes of the BBB.
DCM induces changes in the heart structure (myocardial hypertrophy, fibrosis, and fat droplet deposition) and early changes in cardiac function are evident by the abnormal diastolic function that progresses to systolic dysfunction in the later stage of disease.
Pseudo (platelet-type -von Willebrand disease is a rare autosomal dominant bleeding disorder caused by an abnormal function of the glycoplatelet-type -von; the receplatelet-type -vonbrand factor.
MSI analysis is a PCR test which measures errors in DNA replication caused by loss or abnormal function of the DNA MMR protein.
This could possibly be explained by an abnormal functioning of the inflammatory response, resulting in an increase in inflammatory markers and ultimately leading to chronic inflammation.
The disease is characterized by chronic interstitial inflammation, abnormal function of interstitial fibroblasts and deposition of excessive amounts of collagen, altogether leading to severe tissue remodeling [ 1].
Dysfunction, by contrast, is abnormal functioning of the body, caused by, or manifested as disturbed physiological or psychological processes independent of known structural pathology.
Riley-Day syndrome, also called familial dysautonomia, an inherited disorder occurring almost exclusively in Ashkenazic Jews that is caused by abnormal functioning of the autonomic nervous system.
The only requirement is that it must simulate the system behavior expressed by normal or abnormal functioning of its components.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com