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 · 112 citations · Full text

Glomerular Disease, Genetics, Renal Pathology +19

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

Karin Bradley, Michael R. Bowl, Sian Williams et al. · Oncogene · 2006 · 74 citations

Chromatin, Protein Function, Signal Transduction +10

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

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 · 64 citations · Full text

Pathology, Molecular Biology, Cytoskeleton +18

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