OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

Nephrolithiasis (NL) affects 1 in 11 individuals worldwide, leading to significant patient morbidity. NL is associated with nephrocalcinosis (NC), a risk factor for chronic kidney disease. Causative genetic variants are detected in 11% to 28% of NL and/or NC, suggesting that additional NL/NC-associa...

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Veröffentlicht in:	Genetics in medicine 2023-03, Vol.25 (3), p.100351-100351, Article 100351
Hauptverfasser:	Majmundar, Amar J., Widmeier, Eugen, Heneghan, John F., Daga, Ankana, Wu, Chen-Han Wilfred, Buerger, Florian, Hugo, Hannah, Ullah, Ihsan, Amar, Ali, Ottlewski, Isabel, Braun, Daniela A., Jobst-Schwan, Tilman, Lawson, Jennifer A., Zahoor, Muhammad Yasir, Rodig, Nancy M., Tasic, Velibor, Nelson, Caleb P., Khaliq, Shagufta, Schönauer, Ria, Halbritter, Jan, Sayer, John A., Fathy, Hanan M., Baum, Michelle A., Shril, Shirlee, Mane, Shrikant, Alper, Seth L., Hildebrandt, Friedhelm
Format:	Artikel
Sprache:	eng
Schlagworte:	Alpha-ketoglutarate Calcium Oxalate Genetics Humans Mutation, Missense - genetics Nephrolithiasis Nephrolithiasis - genetics Receptors, Purinergic P2 - genetics Receptors, Purinergic P2 - metabolism Sulfate Transporters - genetics
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