Article
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
BMC medical genetics - 6 May 2020
Sekiya Motohiro, Matsuda Takaaki, Yamamoto Yuki, Furuta Yasuhisa, Ohyama Mariko, Murayama Yuki, Sugano Yoko, Ohsaki Yoshinori, Iwasaki Hitoshi, Yahagi Naoya, Yatoh Shigeru, Suzuki Hiroaki, Shimano Hitoshi
Abstract excerpt
BACKGROUND: Renal hypouricemia (RHUC) is a hereditary disorder where mutations in SLC22A12 gene and SLC2A9 gene cause RHUC type 1 (RHUC1) and RHUC type 2 (RHUC2), respectively. These genes regulate renal tubular reabsorption of urates while there exist other genes counterbalancing the net excretion of urates including ABCG2 and SLC17A1. Urate metabolism is tightly interconnected with glucose metabolism, and...
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