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Showing 1 to 3 of 3 for “"SLC3A1"”.
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Mutationsspektrum in den Genen SLC3A1 und SLC7A9 bei jugendlichen Cystinuriepatienten
… are associated with specific mutations in the SLC3A1 and SLC7A9 genes. Type I cystinuria is caused by mutations in the SLC3A1 gene and follows an autosomal recessive mode of inheritance whereas non Type I cystinuria is caused by mutations in the SLC7A9 gene and exhibits an autosomal dominant …
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Investigating Potential Therapies to Decrease the Rate of Cystine Stone Growth in Slc3a1-/- Mice
… in the urine, resulting in cystine stones. The SLC3A1/SLC7A9 cystine transporter accounts for 90% of cystine reabsorption and mutations in this transporter result in the formation of cystine stones. For this study, micro-computed tomography (µCT) scanning was evaluated for its feasibility to …
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The Effects of Various Therapeutics on Cystine Stone Formation
… through the Nrf2 pathway. In our <em>Slc3a1<sup>-/-</sup>; Nrf2<sup>-/-</sup> </em>mouse model, the mice treated with α lipoic acid still continued to have a reduced rate of stone formation. These results suggested Nrf2 was not the pathway in which α lipoic acid was inhibiting stone …