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FRDA is caused by partial deficiency of the mitochondrial protein frataxin (2).
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To investigate whether the 5-FU toxicity might have been caused by a partial deficiency of DPD, we determined the activity of DPD in peripheral blood mononuclear (PBM) cells.
Our study examines the relationship between the development of diabetic cardiomyopathy and the partial deficiency of HIF1-α caused by the global deletion of Hif1a functional allele.
The partial deficiency of Hif1a accelerates the progression of diabetic cardiomyopathy by significantly decreasing LV fractional shortening.
Hence, haploinsufficiency of Pkd1 had greater effects on bone than partial deficiency of Kif3a.
To circumvent this problem, we generated incremental deletions of Smad1 and Smad5 to achieve a partial deficiency of BMP signaling in chondrocytes.
Partial deficiency of 11β-HSD1 walsolso atheroprotective.
We note that partial deficiency of epsin function has a major impact on intercellular signaling mediated by Notch (Overstreet et al., 2003; Chen et al., 2009).
Thus, the partial deficiency of Hif1a compromised the LV functional parameters under diabetic conditions.
Our data showed that the partial deficiency of the Hif1a gene accelerated the progression of pathological changes induced by the diabetic environment in the heart, including significant changes in cardiac mechanical function and in cardiac gene expression.
A skeletal muscle biopsy showed a combined respiratory chain deficiency and a partial deficiency of coenzyme Q10 most probably secondary to the oxidative damage [ 117].
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