A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase

Molecular identification of a renal urate–anion exchanger that regulates blood urate levels

Atsushi Enomoto, Hiroaki Kimura, Arthit Chairoungdua et al. · Nature · 2002 · 1.5K citations

Life Sciences, Molecular Biology, Physiology +14

Clinical and Molecular Analysis of Patients with Renal Hypouricemia in Japan-Influence of URAT1 Gene on Urinary Urate Excretion

Kimiyoshi Ichida, Makoto Hosoyamada, Ichiro Hisatome et al. · Journal of the American Society of Nephrology · 2004 · 380 citations

Medicine, Genetics, Molecular Genetics +11

The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts

Siguang Li, Serena Sanna, Andrea Maschio et al. · PLoS Genetics · 2007 · 317 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Proteolytic conversion of xanthine dehydrogenase from the NAD-dependent type to the O2-dependent type. Amino acid sequence of rat liver xanthine dehydrogenase and identification of the cleavage sites of the enzyme protein during irreversible conversion by trypsin.

Yoshihiro Amaya, Kimihisa Yamazaki, Masayuki Sato et al. · Journal of Biological Chemistry · 1990 · 276 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

Kimiyoshi Ichida, Yoshihiro Amaya, Naoyuki Kamatani et al. · Journal of Clinical Investigation · 1997 · 154 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12