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#Cystinuria
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Bulk and single-cell RNA sequencing links #MitochondrialDysfunction to sex dimorphism in #cystinuria, showing that restoring #renal #tubular mitochondria in males reduces cell death and #fibroinflammation. @sjtu1896

#OpenAccess: doi.org/10.1016/j.ge...

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This study highlights mitochondrial dysfunction in Slc3a1 knockout male #Kidneys, driven by altered NAD⁺ uptake in #ProximalTubule, as a key mechanism underlying sex differences in #Cystinuria, revealing new therapeutic avenues. #medsky

#OpenAccess: www.sciencedirect.com/science/arti...

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Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria

Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria

Integrated unbiased bulk RNA sequencing, single-cell RNA sequencing, & molecular experiments reveal that mitochondrial SLC3A1 regulates sexual dimorphism in #cystinuria and enhances mitochondrial functions by increasing mitochondrial NAD+ uptake in the proximal tubules. #medsky

buff.ly/Kwqj1LZ

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https://www.sciencedirect.com/science/article/pii/S2352304224002691

https://www.sciencedirect.com/science/article/pii/S2352304224002691

This study provides mechanistic insights into how mitochondrial Slc3a1 plays an important role in regulating #SexualDimorphism in #cystinuria. #KidneyInjury

#OpenAccess: https://buff.ly/4g5Gjkf

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New research shows that mitochondrial SLC3A1 plays key role in regulating sexual dimorphism in cystinuria. This discovery could lead to a
deeper understanding of the disease's gender-specific differences. #Cystinuria #Mitochondria #SexualDimorphism Learn more: www.sciencedirect.com/science/arti...

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Cystine crystals (bright field, x400).

Their presence in #urinarysediment is pathognomonic for #cystinuria, the most common kidney stone disease with Mendelian genetics.

While perfectly specific, the sensitivity of cystine crystalluria is quite low. 

#nephsky #skyneph

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