Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.
Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant genetic disorder that is characterized by hyperuricemia, gout, and tubulointerstitial nephritis. FJHN is caused by mutations in the UMOD gene, which encodes for uromodulin, the most abundant urinary protein. Herein is demons...
Κύριοι συγγραφείς: | Jennings, P, Aydin, S, Kotanko, P, Lechner, J, Lhotta, K, Williams, S, Thakker, R, Pfaller, W |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2007
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
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Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
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Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
ανά: Williams, SE, κ.ά.
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Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.
ανά: Lhotta, K, κ.ά.
Έκδοση: (2012) -
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy
ανά: Demet Alaygut, κ.ά.
Έκδοση: (2013-12-01)