Sian Williams

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

Sian Williams, Adam J. Reed, Juris Galvanovskis et al. · Human Molecular Genetics · 2009 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal

Karin Bradley, Michael R. Bowl, Sian Williams et al. · Oncogene · 2006 · 77 citations

Life Sciences, Cell Biology, Molecular Biology +13

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

Paul Jennings, Sonia Aydin, Peter Kotanko et al. · Journal of the American Society of Nephrology · 2006 · 66 citations · Full text

Medicine, Genetics, Nephrology +14

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

Adam J. Reed, Nellie Y. Loh, Sara Terryn et al. · American Journal of Physiology-Renal Physiology · 2009 · 65 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease

Fiona Wu, Adam J. Reed, Sian Williams et al. · Nephron Physiology · 2009 · 39 citations

Medicine, Molecular Genetics, Oral Biology +15