scholarly journals Familial juvenile hyperuricaemic nephropathy

QJM ◽  
2004 ◽  
Vol 97 (2) ◽  
pp. 106-107 ◽  
Author(s):  
L.D. Fairbanks ◽  
A.M. Marinaki ◽  
H.A. Simmonds ◽  
J.S. Cameron
Keyword(s):  
Familial Juvenile Hyperuricaemic Nephropathy

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

1998 ◽  
Vol 12 (5) ◽  
pp. 357-364 ◽  
Author(s):  
Mary B. McBride ◽  
Sue Rigden ◽  
George B. Haycock ◽  
Neil Dalton ◽  
William Van't Hoff ◽  
...  
Keyword(s):  
Familial Juvenile Hyperuricaemic Nephropathy

Familial Juvenile Hyperuricaemic Nephropathy is not Such a Rare Genetic Metabolic Purine Disease in Britain

2006 ◽  
Vol 25 (9-11) ◽  
pp. 1071-1075 ◽  
Author(s):  
H. A. Simmonds ◽  
J. S. Cameron ◽  
D. J. Goldsmith ◽  
L. D. Fairbanks ◽  
G. Venkat Raman
Keyword(s):  
Familial Juvenile Hyperuricaemic Nephropathy

scholarly journals Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

2009 ◽  
Vol 18 (16) ◽  
pp. 2963-2974 ◽  
Author(s):  
Siân E. Williams ◽  
Anita A.C. Reed ◽  
Juris Galvanovskis ◽  
Corinne Antignac ◽  
Tim Goodship ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Protein Maturation ◽  
Familial Juvenile Hyperuricaemic Nephropathy

Hepatocyte nuclear factor-1B

2018 ◽  
Author(s):  
Coralie Bingham
Keyword(s):  
Transcription Factor ◽  
Renal Cysts ◽  
Renal Diseases ◽  
Renal Development ◽  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Renal Disorders ◽  
Onset Diabetes ◽  
Familial Juvenile Hyperuricaemic Nephropathy

Hepatocyte nuclear factor-1B (HNF1B, also known as TCF2) is a transcription factor that is involved in renal development, and in the transcription of several genes implicated in other genetic renal diseases. Mutations in HNF1B cause maturity onset diabetes of the young, renal cysts and diabetes syndrome, and some cases of familial juvenile hyperuricaemic nephropathy. They also account for a large proportion of developmental renal disorders included abnormalities detected antenatally. The various abnormalities associated with the gene may occur in isolation or together in the same patient.

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