Genomes and Genes
Patrick H Maxwell
Affiliation: University College London
- Factor inhibiting HIF (FIH-1) promotes renal cancer cell survival by protecting cells from HIF-1α-mediated apoptosisM N Khan
Centre for Cell Signalling and Molecular Genetics, Rayne Institute, University College London, London, WC1E 6JF, UK
Br J Cancer 104:1151-9. 2011..Factor inhibiting HIF-1 is an enzyme that hydroxylates HIF-α subunits and prevents recruitment of the co-activator CBP/P300. An important question is whether FIH-1 controls HIF activity in CCRCC...
- Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritisDaniel P Gale
Division of Medicine, University College, London, UK
Lancet 376:794-801. 2010..We aimed to establish the genetic basis for a familial disorder of complement regulation associated with persistent microscopic haematuria, recurrent macroscopic haematuria, glomerulonephritis, and progressive renal failure...
- Seeing the smoking gun: a sensitive and specific method to visualize loss of the tumour suppressor, fumarate hydratase, in human tissuesPatrick H Maxwell
University College London, Division of Medicine, London WC1E 6JF, UK
J Pathol 225:1-3. 2011..Detection of protein succination is likely to provide a sensitive and specific method for pathologists to identify the small proportion of papillary renal cell carcinomas that are associated with germline mutations in the FH gene...
- Inactivation of the von Hippel-Lindau tumour suppressor gene induces Neuromedin U expression in renal cancer cellsSarah K Harten
Division of Medicine, University College London, London, UK
Mol Cancer 10:89. 2011..However how VHL exerts its tumour suppressor function remains unclear. A gene expression microarray comparing RCC10 renal cancer cells expressing either VHL or an empty vector was used to identify novel VHL regulated genes...
- Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levelsJohn C Chambers
Department of Epidemiology and Public Health, Imperial College London, London, UK
Nat Genet 41:1170-2. 2009..13 (95% CI 0.09-0.17) g/dl lower per copy of allele A (P = 1.6 x 10(-13)). Our findings suggest that TMPRSS6, a regulator of hepcidin synthesis and iron handling, is crucial in hemoglobin level maintenance...
- Deletion of the von Hippel-Lindau gene in pancreatic beta cells impairs glucose homeostasis in miceJames Cantley
Centre for Diabetes and Endocrinology, Faculty of Medicine, Rayne Institute, University College London, London, UK
J Clin Invest 119:125-35. 2009..These data suggest that VHL/HIF oxygen-sensing mechanisms play a critical role in glucose homeostasis and that activation of this pathway in response to decreased islet oxygenation may contribute to beta cell dysfunction...
- Human CHCHD4 mitochondrial proteins regulate cellular oxygen consumption rate and metabolism and provide a critical role in hypoxia signaling and tumor progressionJun Yang
Centre for Cell Signalling and Molecular Genetics, University College London, Division of Medicine, Rayne Institute, London, United Kingdom
J Clin Invest 122:600-11. 2012..Thus, our study identifies a mitochondrial mechanism that is critical for regulating the hypoxic response in tumors...
- C3 glomerulonephritis and CFHR5 nephropathyDaniel P Gale
Centre for Nephrology, Division of Medicine, University College London, London, UK
Nephrol Dial Transplant 28:282-8. 2013..An exciting challenge is to determine whether this can be applied to kidney diseases that are caused by complement dysregulation, and also whether they might be used to intervene in other kidney diseases...
- Prolyl hydroxylase domain inhibitors: a route to HIF activation and neuroprotectionSarah K Harten
Division of Medicine, Rayne Institute, University College London, University Street, London, United Kingdom
Antioxid Redox Signal 12:459-80. 2010..Nevertheless, PHD inhibitors may be therapeutically useful in the treatment of stroke. Prototype PHD inhibitors have shown promising results in preclinical models...
- Von Hippel-Lindau protein in the RPE is essential for normal ocular growth and vascular developmentClemens A K Lange
Department of Genetics, Institute of Ophthalmology, NIHR Biomedical Research Centre for Ophthalmology, University College London, London EC1V 9EL, UK
Development 139:2340-50. 2012....
- Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherinSarah K Harten
Division of Medicine, Rayne Institute, University College London, WC1E 6JJ, London, United Kingdom
Mol Biol Cell 20:1089-101. 2009..Despite the independent nature of the defects, we show that treatment with the histone deacetylase inhibitor sodium butyrate, which suppresses HIF activation, provides a method for reversing EMT in the context of VHL inactivation...
- Genetic loci influencing kidney function and chronic kidney diseaseJohn C Chambers
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College of London, London, UK
Nat Genet 42:373-5. 2010..0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease...
- Inhibition of hypoxia inducible factor hydroxylases protects against renal ischemia-reperfusion injuryPeter Hill
Renal Section, Division of Medicine, Imperial College London, Hammersmith Campus, Du Cane Road, London, W12 0NN, UK
J Am Soc Nephrol 19:39-46. 2008..Therefore, pharmacological activation of HIF may offer an effective strategy to protect the kidney from ischemic injury...
- The role of HIF in immunityDaniel P Gale
Division of Medicine, University College London, UK
Int J Biochem Cell Biol 42:486-94. 2010..It is likely that understanding how oxygen tension modulates immune function will provide insights into disease pathogenesis, and may offer new opportunities for treatment...
- Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based studyThomas M F Connor
UCL Division of Medicine and Centre for Nephrology, University College London, London, United Kingdom
PLoS ONE 8:e54394. 2013..This is the first report of the incidence and causes of end-stage renal disease (ESRD) of the Turkish-Cypriot population in Northern Cyprus...