Novel Uromodulin Mutation in Familial Juvenile Hyperuricemic Nephropathy

2012 ◽  
Vol 36 (2) ◽  
pp. 114-120 ◽  
Author(s):  
Xin Wei ◽  
Ricong Xu ◽  
Zhenhua Yang ◽  
Zhijian Li ◽  
Yunhua Liao ◽  
...  
Keyword(s):  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease—a series of cases in two families

Renal Failure ◽  
2016 ◽  
Vol 38 (10) ◽  
pp. 1759-1762 ◽  
Author(s):  
Kamila A. Kaminska-Pajak ◽  
Katarzyna Dyga ◽  
Piotr Adamczyk ◽  
Maria Szczepańska ◽  
Marcin Zaniew ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Topiroxostat improved the apoptosis of cells expressing Uromodulin Mutation C112Y Causing Familial Juvenile Hyperuricemic Nephropathy (FJHN)

2014 ◽  
Vol 38 (1) ◽  
pp. 94
Author(s):  
Peili Li ◽  
Sulistiyati Bayu Utami ◽  
Nobuhito Ikeda ◽  
Tomomi Notsu ◽  
Udin Bahrudin ◽  
...  
Keyword(s):  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals A case of familial juvenile hyperuricemic nephropathy with a novel UMOD mutation in Japanese family.

2015 ◽  
Vol 28 (1) ◽  
pp. 43-49
Author(s):  
Maki Shimizu ◽  
Yukiko Kinoshita ◽  
Tetsuro Furumoto ◽  
Yuko Ichihara ◽  
Keisuke Fukudome ◽  
...  
Keyword(s):  
Japanese Family ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Disappearance of Tophi in Familial Juvenile Hyperuricemic Nephropathy after Kidney Transplantation

2007 ◽  
Vol 7 (11) ◽  
pp. 2634-2636 ◽  
Author(s):  
E. Merieau ◽  
A. Al Najjar ◽  
J.-M. Halimi ◽  
M. Sacquépée ◽  
H. Nivet ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Membrane Targeting and Secretion of Mutant Uromodulin in Familial Juvenile Hyperuricemic Nephropathy

2006 ◽  
Vol 18 (1) ◽  
pp. 264-273 ◽  
Author(s):  
Paul Jennings ◽  
Sonia Aydin ◽  
Peter Kotanko ◽  
Judith Lechner ◽  
Karl Lhotta ◽  
...  
Keyword(s):  
Membrane Targeting ◽  
Familial Juvenile Hyperuricemic Nephropathy

scholarly journals Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

2003 ◽  
Vol 63 (5) ◽  
pp. 1645-1651 ◽  
Author(s):  
Coralie Bingham ◽  
Sian Ellard ◽  
William G. van't Hoff ◽  
H. Anne Simmonds ◽  
Anthony M. Marinaki ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Familial Juvenile Hyperuricemic Nephropathy
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