Professor Albert CM Ong
MA, DM, FRCP, FAoP, FERA
Clinical Medicine, School of Medicine and Population Health
Professor of Renal Medicine
+44 114 215 9542
Full contact details
Clinical Medicine, School of Medicine and Population Health
The Medical School
Beech Hill Road
Sheffield
S10 2RX
- Profile
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For enquiries please contact - SMPH-West-Operational@sheffield.ac.uk
Albert Ong is Professor of Renal Medicine at the University of Sheffield, UK. He studied medicine at the University of Oxford and trained as a physician-scientist at University College London and Oxford. He held senior research fellowships from Kidney Research UK and the Wellcome Trust at Oxford and Sheffield. His scientific research focuses on the molecular basis of cyst formation, the biological basis for disease variability and drug discovery in autosomal dominant polycystic kidney disease (ADPKD). He founded and leads specialist services for ADPKD and other genetic kidney diseases at the Sheffield Kidney Institute. His work has been recognised through several national and international awards, including the ISN Lillian Jean Kaplan International Prize. As a key opinion leader, he continues to provide strategic advice and leadership internationally. He currently serves as Co-Director of the MRC-NIHR UK Renal Ciliopathies National Network (CILIAREN) and as a member of the ERA Council.
- Research interests
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My long-term research goals are to understand the molecular basis of cyst formation and the determinants of biological variation with the aim of developing novel therapies in ADPKD. Current areas of investigation are the role of cytoskeletal dysregulation in cyst initiation, changes in RNA metabolism in disease progression and the genetic basis of neonatal-onset PKD.
Projects:
- Role of compartmentalised GTPase signalling in polycystin regulation of actin structure and dynamics
- Non-coding RNAs as biomarkers of disease activity and as therapeutic targets
- RNA-binding proteins as key mediators of disease initiation and progression in ADPKD
- Complex genetics underlying very-early onset PKD
- Publications
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Show: Featured publications All publications
Featured publications
Journal articles
- Chronic kidney disease and the global public health agenda: an international consensus. Nature Reviews Nephrology, 1-13.
- Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD. Nephrology Dialysis Transplantation. View this article in WRRO
- An Artificial Intelligence generated Automated Algorithm to measure Total Kidney Volume in ADPKD. Kidney International Reports.
- OVERTURE: A worldwide, prospective, observational study of disease characteristics in patients with ADPKD. Kidney International Reports, 8(5), 989-1001.
- Venglustat, a novel glucosylceramide synthase inhibitor, in patients at risk of rapidly progressing ADPKD: primary results of a double-blind, placebo-controlled, phase 2/3 randomized clinical trial. American Journal of Kidney Diseases.
- TAMEing ADPKD with metformin : safe and effective?. Kidney International, 100(3), 513-515.
- Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in Medicine.
- Polycystin-1 regulates ARHGAP35-dependent centrosomal RhoA activation and ROCK signaling. JCI Insight, 5(16).
- Global microRNA profiling in human urinary exosomes reveals novel disease biomarkers and cellular pathways for autosomal dominant polycystic kidney disease. Kidney International, 98(2), 420-435. View this article in WRRO
- Cellular signaling in PKD: foreword. Cellular Signalling, 71. View this article in WRRO
- Tolvaptan slows disease progression in late-stage ADPKD. Nature Reviews Nephrology, 14(3), 146-148.
- Making sense of polycystic kidney disease. The Lancet, 389(10081), 1780-1782.
- The Polycystin-1, Lipoxygenase, and α-Toxin Domain Regulates Polycystin-1 Trafficking. Journal of the American Society of Nephrology, 27(4), 1159-1173.
- A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney International, 88(4), 699-710. View this article in WRRO
- Autosomal dominant polycystic kidney disease: the changing face of clinical management. The Lancet, 385(9981), 1993-2002.
- Polycystic kidney disease--the ciliary connection.. Lancet, 361(9359), 774-776.
- Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.. J Biol Chem, 277(23), 20763-20773. View this article in WRRO
- Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.. Kidney Int, 56(4), 1324-1333.
- Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.. Am J Pathol, 154(6), 1721-1729.
- Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.. Proc Natl Acad Sci U S A, 93(4), 1524-1528.
All publications
Journal articles
- #2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants. Nephrology Dialysis Transplantation, 39(Supplement_1).
- #2695 A Polycystin-1-Bicaudal C1 complex regulates focal adhesion function through integrin beta-1, F-actin organisation and local translation in HKE cells. Nephrology Dialysis Transplantation, 39(Supplement_1).
- Chronic kidney disease and the global public health agenda: an international consensus. Nature Reviews Nephrology, 1-13.
- Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, S0140-6736(23)02843.
- Global analysis of urinary extracellular vesicle small RNAs in autosomal dominant polycystic kidney disease. The Journal of Gene Medicine, 26(2), e3674.
- Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD. Nephrology Dialysis Transplantation. View this article in WRRO
- Liver transplant recipients with polycystic liver disease have longer waiting times but better long-term clinical outcomes than those with liver disease due to other causes: a retrospective cross-sectional study. PLOS ONE, 19(1). View this article in WRRO
- Corrigendum to “An Artificial Intelligence Generated Automated Algorithm to Measure Total Kidney Volume in ADPKD” [Kidney International Reports Volume 9, Issue 2, February 2024, Pages 249-256]. Kidney International Reports.
- Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney International Reports.
- An Artificial Intelligence generated Automated Algorithm to measure Total Kidney Volume in ADPKD. Kidney International Reports.
- Diet and Polycystic Kidney Disease: Nutrients, Foods, Dietary Patterns, and Implications for Practice. Seminars in Nephrology, 43(2), 151405-151405.
- The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease. Human Mutation, 2023. View this article in WRRO
- Patient perspectives on ADPKD. Advances in Kidney Disease and Health, 30(3), 294-302.
- Hypertension in young adults with autosomal dominant polycystic kidney disease: a case for early screening?. Clinical Kidney Journal.
- The association of urinary epidermal growth factors with ADPKD disease severity and progression. Nephrology Dialysis Transplantation.
- WCN23-0391 THE CLINICAL CHARACTERISTICS AND KIDNEY OUTCOME IN CHINESE PATIENTS WITH TYPICAL AND ATYPICAL POLYCYSTIC KIDNEY DISEASE. Kidney International Reports, 8(3), S244-S245.
- OVERTURE: A worldwide, prospective, observational study of disease characteristics in patients with ADPKD. Kidney International Reports, 8(5), 989-1001.
- Chronic kidney disease as cardiovascular risk factor in routine clinical practice: a position statement by the Council of the European Renal Association. Nephrology Dialysis Transplantation, 38(3), 527-531.
- Chronic kidney disease as cardiovascular risk factor in routine clinical practice: a position statement by the Council of the European Renal Association. Clinical Kidney Journal, 16(3), 403-407.
- Venglustat, a novel glucosylceramide synthase inhibitor, in patients at risk of rapidly progressing ADPKD: primary results of a double-blind, placebo-controlled, phase 2/3 randomized clinical trial. American Journal of Kidney Diseases.
- Chronic kidney disease as cardiovascular risk factor in routine clinical practice: a position statement by the Council of the European Renal Association. European Journal of Preventive Cardiology.
- A founder UMOD variant is a common cause of hereditary nephropathy in the British population. Journal of Medical Genetics.
- The STAGED-PKD 2-stage adaptive study with a patient enrichment strategy and treatment effect modeling for improved study design efficiency in patients with ADPKD. Kidney Medicine.
- Patients with polcystic liver disease have longer waiting times but better clinical outcomes following liver transplantation in the UK. Journal of Hepatology, 77, S814-S814.
- From WEDA to EDTA to ERA: 60 years of supporting European nephrology and counting. Clinical Kidney Journal, 15(8), 1439-1446.
- Research priorities for autosomal dominant polycystic kidney disease : a UK priority setting partnership. BMJ Open, 12(6).
- Flank pain has a significant adverse impact on quality of life in ADPKD: the CYSTic-QoL study. Clinical Kidney Journal.
- An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International. Kidneys, 11(1), 37-39. View this article in WRRO
- MO015: The Interaction of Gender and Genotype in the Development of Polycystic Liver Disease in ADPKD. Nephrology Dialysis Transplantation, 37(Supplement_3).
- MO030: Familial clustering of a rare UMOD variant in undiagnosed hereditary nephropathy suggests the presence of a common ancestral founder mutation. Nephrology Dialysis Transplantation, 37(Supplement_3).
- Can ketogenic dietary interventions slow disease progression in ADPKD : what we know and what we don't. Clinical Kidney Journal, 15(6), 1034-1036.
- From WEDA to EDTA to ERA : 60 years of supporting European nephrology and counting. Nephrology Dialysis Transplantation.
- Individualized everolimus treatment for tuberous sclerosis-related angiomyolipoma promotes treatment adherence and response. Clinical Kidney Journal. View this article in WRRO
- Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice. Human Molecular Genetics. View this article in WRRO
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. The American Journal of Human Genetics.
- TAMEing ADPKD with metformin : safe and effective?. Kidney International, 100(3), 513-515.
- An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human Nephronophthisis. Human Molecular Genetics.
- Drug repurposing in autosomal dominant polycystic kidney disease: back to the future with pioglitazone. Clinical Kidney Journal. View this article in WRRO
- Coronavirus-associated kidney outcomes in COVID-19, SARS, and MERS: a meta-analysis and systematic review. Renal Failure, 43(1), 1-15.
- The controversial role of fibrosis in Autosomal Dominant Polycystic Kidney Disease. International Journal of Molecular Sciences, 21(23). View this article in WRRO
- Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in Medicine.
- ‘A sword of Damocles’ : patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study. BMJ Open, 10(10).
- STAGED-PKD: Patient Enrichment and Modeling-Driven Efficient ADPKD Trial Design. Journal of the American Society of Nephrology, 31(10S), 502-502.
- STAGED-PKD: An Enriched, Seamless, Two-Stage Study for Venglustat Assessment in ADPKD. Journal of the American Society of Nephrology, 31(10S), 502-502.
- Polycystin-1 regulates ARHGAP35-dependent centrosomal RhoA activation and ROCK signaling. JCI Insight, 5(16).
- Establishing a core outcome set for autosomal dominant polycystic kidney disease : report of the Standardized Outcomes in Nephrology–Polycystic Kidney Disease (SONG-PKD) consensus workshop. American Journal of Kidney Diseases.
- Post-translational modifications of the polycystin proteins. Cellular Signalling, 72.
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney International. View this article in WRRO
- Global microRNA profiling in human urinary exosomes reveals novel disease biomarkers and cellular pathways for autosomal dominant polycystic kidney disease. Kidney International, 98(2), 420-435. View this article in WRRO
- The positive effect of selective prostaglandin E2 receptor EP2 and EP4 blockade on cystogenesis in vitro is counteracted by increased kidney inflammation in vivo. Kidney International, 98(2), 404-419. View this article in WRRO
- Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 584(7819), E2-E2.
- Cellular signaling in PKD: foreword. Cellular Signalling, 71. View this article in WRRO
- SO092REDUCED QUALITY OF LIFE IN ADPKD PATIENTS WITH CKD STAGE 1-3: THE CYSTIC I QUALITY OF LIFE STUDY. Nephrology Dialysis Transplantation, 35(Supplement_3).
- Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. View this article in WRRO
- Core outcome domains for trials in autosomal dominant polycystic kidney disease: An international Delphi survey. American Journal of Kidney Diseases. View this article in WRRO
- Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney International. View this article in WRRO
- Range and variability of outcomes reported in randomized trials conducted in patients with polycystic kidney disease: A systematic review. American Journal of Kidney Diseases. View this article in WRRO
- Long-acting somatostatin analogue treatments in autosomal dominant polycystic kidney disease and polycystic liver disease : a systematic review and meta-analysis. BMJ Open, 10(1). View this article in WRRO
- A high throughput zebrafish chemical screen reveals ALK5 and non-canonical androgen signalling as modulators of the pkd2−/− phenotype. Scientific Reports, 10(1). View this article in WRRO
- Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease. Kidney International, 97(2), 370-382.
- Tuberous sclerosis complex (TSC) : expert recommendations for provision of coordinated care. Frontiers in Neurology, 10. View this article in WRRO
- SAT-100 “A SWORD OF DAMOCLES”: PATIENT AND CAREGIVER BELIEFS, ATTITUDES AND PERSPECTIVES ON GENETIC SCREENING AND TESTING FOR AUTOSOMAL POLYCYSTIC KIDNEY DISEASE - FOCUS GROUP STUDY. Kidney International Reports, 4(7), S48-S48.
- SAT-334 GENETIC TESTING OF FAMILIES WITH VERY EARLY ONSET POLYCYSTIC KIDNEY DISEASE REVEALS THE FUNCTIONAL SIGNIFICANCE OF HYPOMORPHIC VARIANTS. Kidney International Reports, 4(7), S148-S148.
- Small-molecule allosteric activators of PDE4 long form cyclic AMP phosphodiesterases.. Proceedings of the National Academy of Sciences, 116(27), 13320-13329. View this article in WRRO
- Renal monocyte chemoattractant protein-1: an emerging universal biomarker and therapeutic target for kidney diseases?. Nephrology,Dialysis and Transplantation. View this article in WRRO
- A rapid high-performance semi-automated tool to measure total kidney volume from MRI in autosomal dominant polycystic kidney disease. European Radiology, 1-10. View this article in WRRO
- Identifying patient‐important outcomes in polycystic kidney disease: An international nominal group technique study. Nephrology. View this article in WRRO
- Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.. Radiology. View this article in WRRO
- Implementing core outcomes in kidney disease: report of the Standardized Outcomes in Nephrology (SONG) implementation workshop. Kidney International, 94(6), 1053-1068.
- Magnetic resonance imaging biomarkers for chronic kidney disease: a position paper from the European Cooperation in Science and Technology Action PARENCHIMA. Nephrology Dialysis Transplantation, 33(Sup 2), ii4-ii14. View this article in WRRO
- European ADPKD Forum multidisciplinary position statement on autosomal dominant polycystic kidney disease care: European ADPKD Forum and Multispecialist Roundtable participants. Nephrology Dialysis Transplantation, 33(4), 563-573. View this article in WRRO
- Linear and Nonlinear Estimated GFR Slopes in ADPKD Patients Reaching ESRD.. Am J Kidney Dis. View this article in WRRO
- A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model. BMC Nephrology, 19(1). View this article in WRRO
- Tolvaptan slows disease progression in late-stage ADPKD. Nature Reviews Nephrology, 14(3), 146-148.
- Targeting new cellular disease pathways in autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation, 32(12), 2144-2144.
- Standardised Outcomes in Nephrology—Polycystic Kidney Disease (SONG-PKD): study protocol for establishing a core outcome set in polycystic kidney disease. Trials, 18(1). View this article in WRRO
- The Sorting Nexin 3 Retromer Pathway Regulates the Cell Surface Localization and Activity of a Wnt-Activated Polycystin Channel Complex. Journal of the American Society of Nephrology, 28(10), 2973-2984. View this article in WRRO
- Targeting new cellular disease pathways in autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation.
- Making sense of polycystic kidney disease. The Lancet, 389(10081), 1780-1782.
- TO033VERY EARLY-ONSET AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE DUE TO BI-ALLELIC MUTATIONS IN PKD1 AND PKD2. Nephrology Dialysis Transplantation, 32(suppl_3), iii94-iii94.
- Parallel microarray profiling identifies ErbB4 as a determinant of cyst growth in ADPKD and a prognostic biomarker for disease progression. American Journal of Physiology - Renal Physiology, 312(4), F577-F588. View this article in WRRO
- STAT5 drives abnormal proliferation in autosomal dominant polycystic kidney disease. Kidney International, 91(3), 575-586. View this article in WRRO
- Development of a rapid semi-automated tool to measure total kidney volume in autosomal dominant polycystic kidney disease. The Lancet, 389, S90-S90. View this article in WRRO
- Autosomal dominant polycystic kidney disease: recent advances in clinical management. F1000Research, 5, 2029-2029. View this article in WRRO
- SO053SELECTIVE PROSTAGLANDIN E2 RECEPTOR BLOCKADE FOR THE TREATMENT OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Nephrology Dialysis Transplantation, 31(suppl_1), i22-i23.
- Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice. Nephrology Dialysis Transplantation, 31(3), 337-348. View this article in WRRO
- The Polycystin-1, Lipoxygenase, and α-Toxin Domain Regulates Polycystin-1 Trafficking. Journal of the American Society of Nephrology, 27(4), 1159-1173.
- Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation, 31(7), 1130-1140.
- New onset diabetes after kidney transplantation in patients with autosomal dominant polycystic kidney disease: systematic review protocol: Figure 1. BMJ Open, 5(11). View this article in WRRO
- A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney International, 88(4), 699-710. View this article in WRRO
- The cAMP Signaling Pathway and Direct Protein Kinase A Phosphorylation Regulate Polycystin-2 (TRPP2) Channel Function. Journal of Biological Chemistry, 290(39), 23888-23896.
- Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 88(1), 17-27.
- Department of Error. The Lancet, 385(9987), 2576-2576.
- FP364INCREASED PSYCHOSOCIAL BURDEN AND ADVERSE QUALITY OF LIFE IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Nephrology Dialysis Transplantation, 30(suppl_3), iii190-iii190.
- Autosomal dominant polycystic kidney disease: the changing face of clinical management. The Lancet, 385(9981), 1993-2002.
- Backbone assignment and secondary structure of the PLAT domain of human polycystin-1. Biomolecular NMR Assignments, 9(2), 369-373.
- SuO042POLYCYSTIN-1 TRAFFICKING IS REGULATED BY CAMP DEPENDENT PHOSPHORYLATION OF THE PLAT DOMAIN. Nephrology Dialysis Transplantation, 30(suppl_3), iii63-iii63.
- Metabolic abnormalities in autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation, 30(2), 197-203.
- Endothelin and Tubulointerstitial Renal Disease. Seminars in Nephrology, 35(2), 197-207.
- Genetic Testing in the Assessment of Living Related Kidney Donors at Risk of Autosomal Dominant Polycystic Kidney Disease. Transplantation, 99(5), 1023-1029.
- Development Of A Model To Predict Disease Progression In Autosomal Dominant Polycystic Kidney Disease (ADPKD). Value in Health, 17(7), A564-A564.
- Building a network of ADPKD reference centres across Europe: the EuroCYST initiative. Nephrology Dialysis Transplantation, 29(suppl_4), iv26-iv32.
- Sudden death due to subarachnoid haemorrhage in an infant with autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation, 29(suppl 4), iv121-iv123.
- How simple are 'simple renal cysts'?. Nephrology Dialysis Transplantation, 29(suppl 4), iv106-iv112.
- Rare inherited kidney diseases: challenges, opportunities, and perspectives. The Lancet, 383(9931), 1844-1859.
- Renal development and cystic diseases.. Nephrol Dial Transplant, 29 Suppl 3, iii73-iii78.
- Angiopoietin-1 regulates microvascular reactivity and protects the microcirculation during acute endothelial dysfunction: role of eNOS and VE-cadherin.. Pharmacol Res, 80, 43-51.
- Erratum. Nephrology Dialysis Transplantation, 29(12), 2353-2353.
- Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe: prevalence and survival--an analysis of data from the ERA-EDTA Registry. Nephrology Dialysis Transplantation, 29(suppl 4), iv15-iv25.
- Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease. Kidney International, 86(6), 1244-1252.
- Fabrication and luminescence of monolayered boron nitride quantum dots.. Small, 10(1), 60-65.
- New treatments for autosomal dominant polycystic kidney disease. British Journal of Clinical Pharmacology, 76(4), 524-535.
- Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.. Nephron Clin Pract, 124(1-2), 31-37.
- Fabrication of luminescent monolayered tungsten dichalcogenides quantum dots with giant spin-valley coupling.. ACS Nano, 7(9), 8214-8223.
- The Role of Phospholipase D in Modulating the MTOR Signaling Pathway in Polycystic Kidney Disease. PLoS ONE, 8(8). View this article in WRRO
- Primary cilia and renal cysts: does length matter?. Nephrol Dial Transplant, 28(11), 2661-2663.
- The natural history of autosomal dominant polycystic kidney disease: 30-year experience from a single centre.. QJM, 106(7), 639-646.
- Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.. Hum Mol Genet, 22(10), 1924-1939.
- Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin. Pflugers Archiv European Journal of Physiology, 1-14.
- Pkd2 mesenteric vessels exhibit a primary defect in endothelium-dependent vasodilatation restored by rosiglitazone.. Am J Physiol Heart Circ Physiol, 304(1), H33-H41.
- Cystic kidney diseases: many ways to form a cyst.. Pediatr Nephrol, 28(1), 33-49. View this article in WRRO
- The ERA-EDTA Working Group on inherited kidney disorders. Nephrology Dialysis Transplantation, 27(1), 67-69.
- Mechanism-Based Therapeutics for Autosomal Dominant Polycystic Kidney Disease: Recent Progress and Future Prospects. NEPHRON CLINICAL PRACTICE, 120(1), C25-C34.
- Spurious hypophosphatemia associated with monoclonal paraproteinemia.. QJM, 105(7), 693-696.
- mTOR signaling is differentially affected in human renal cells with PKD1 or PKD2 mutations. PEDIATR NEPHROL, 26(9), 1648-1648.
- Endothelin in polycystic kidney disease.. Contrib Nephrol, 172, 200-209.
- A single amino acid residue constitutes the third dimerization domain essential for the assembly and function of the tetrameric polycystin-2 (TRPP2) channel.. J Biol Chem, 286(21), 18994-19000. View this article in WRRO
- Thiazolidinediones inhibit MDCK cyst growth through disrupting oriented cell division and apicobasal polarity.. Am J Physiol Renal Physiol, 300(6), F1375-F1384.
- Towards the Integration of Genetic Knowledge into Clinical Practice. NEPHRON CLIN PRACT, 118(1), C3-C8.
- What's new in... Ciliopathies. Medicine, 39(2), 119-125.
- Protein kinase D-mediated phosphorylation of polycystin-2 (TRPP2) is essential for its effects on cell growth and calcium channel activity.. Mol Biol Cell, 21(22), 3853-3865.
- A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes. EMBO J, 29(7), 1176-1191. View this article in WRRO
- Structural and Molecular Basis of the Assembly of the TRPP2/PKD1 Complex. Biophysical Journal, 98(3), 344a-344a.
- Structural and Molecular Basis of the Assembly of the TRPP2/PKD1 Complex. BIOPHYSICAL JOURNAL, 98(3), 343A-343A.
- Screening for intracranial aneurysms in ADPKD. BMJ, 339(oct13 2), b4204-b4204.
- Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury.. Am J Pathol, 175(4), 1493-1503. View this article in WRRO
- Screening for intracranial aneurysms in ADPKD.. BMJ, 339, b3763. View this article in WRRO
- A novel dephosphorylation-activated conductance in a mouse renal collecting duct cell line.. Exp Physiol, 94(8), 914-927.
- Autosomal dominant polycystic kidney disease.. Clin Med (Lond), 9(3), 278-283.
- Homophilic and heterophilic polycystin 1 interactions regulate E-cadherin recruitment and junction assembly in MDCK cells.. J Cell Sci, 122(Pt 9), 1410-1417. View this article in WRRO
- Peroxisome proliferator-activated receptor gamma agonists in kidney disease--future promise, present fears.. Nephron Clin Pract, 112(4), c230-c241. View this article in WRRO
- Erratum: Homophilic and heterophilic polycystin 1 interactions regulate E-cadherin recruitment and junction assembly in MDCK cells (Journal of Cell Science vol. 122 (1410-1417)). Journal of Cell Science, 122(10), 1702.
- Structural and molecular basis of the assembly of the TRPP2/PKD1 complex. Proceedings of the National Academy of Sciences of the United States of America, 106(28), 11558-11563. View this article in WRRO
- Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2.. J Biol Chem, 283(42), 28471-28479. View this article in WRRO
- Activation of TRPP2 through mDia1-dependent voltage gating. EMBO J, 27(9), 1345-1356.
- Autosomal dominant polycystic kidney disease: recent advances in pathogenesis and treatment.. Nephron Physiol, 108(1), p1-p7.
- Hyperproliferation of PKD1 cystic cells is induced by insulin-like growth factor-1 activation of the Ras/Raf signalling system.. Kidney Int, 72(2), 157-165.
- Endothelin B receptor blockade accelerates disease progression in a murine model of autosomal dominant polycystic kidney disease.. J Am Soc Nephrol, 18(2), 560-569.
- Polycystic kidney disease is a risk factor for new-onset diabetes after transplantation.. Transplantation, 83(1), 36-40.
- Involvement of hypoxia-inducible transcription factors in polycystic kidney disease. American Journal of Pathology, 170(3), 830-842.
- Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor. Human Molecular Genetics, 16(3), 265-275.
- Haploinsufficiency of Pkd2 is associated with increased tubular cell proliferation and interstitial fibrosis in two murine Pkd2 models.. Nephrol Dial Transplant, 21(8), 2078-2084.
- Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro.. Hum Mol Genet, 15(9), 1465-1473. View this article in WRRO
- Detection of proximal tubular motile cilia in a patient with renal sarcoidosis associated with hypercalcemia.. Am J Kidney Dis, 45(6), 1096-1099.
- Molecular pathogenesis of ADPKD: the polycystin complex gets complex.. Kidney Int, 67(4), 1234-1247.
- Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected. J BIOL CHEM, 279(26), 27472-27481. View this article in WRRO
- Functional analysis of PKD1 transgenic lines reveals a direct role for polycystin-1 in mediating cell-cell adhesion.. J Am Soc Nephrol, 14(7), 1804-1815.
- Genetic Renal Abnormalities. Medicine, 31(5), 32-35.
- Polycystic kidney disease--the ciliary connection.. Lancet, 361(9359), 774-776.
- Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet, 361(9376), 2196-2201.
- Expression and cellular localisation of renal endothelin-1 and endothelin receptor subtypes in autosomal-dominant polycystic kidney disease.. Nephron Exp Nephrol, 93(2), e80.
- Polycystin-2 expression is increased following experimental ischaemic renal injury.. Nephrol Dial Transplant, 17(12), 2138-2144.
- Genotype/phenotype correlations in ADPKD: Vascular complications.. J AM SOC NEPHROL, 13, 40A-40A.
- Polycystin-1 mediates cell-cell adhesion in PKD1 transgenic and non-transgenic lines. J AM SOC NEPHROL, 13, 46A-46A.
- Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.. J Biol Chem, 277(23), 20763-20773. View this article in WRRO
- Polycystin expression in the kidney and other tissues: Complexity, consensus and controversy. EXP NEPHROL, 8(4-5), 208-214.
- Polycystin expression in the kidney and other tissues: complexity, consensus and controversy.. Exp Nephrol, 8(4-5), 208-214.
- Endothelin antagonists in renal disease. KIDNEY INT, 57(4), 1778-1794.
- Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.. Kidney Int, 56(4), 1324-1333.
- Polycystin expression in PKD-1, infantile PKD-1 and TSC-2/PKD-1 cystic tissue: heterogenous expression of the normal allele in cystic epithelia.. KIDNEY INT, 55(6), 2559-2559.
- Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.. Am J Pathol, 154(6), 1721-1729.
- Characterisation and expression of the PKD-1 protein, polycystin, in renal and extrarenal tissues.. Kidney Int, 55(5), 2091-2116.
- Characterisation and expression of the PKD-1 protein, polycystin, in renal and extrarenal tissues.. KIDNEY INT, 55(5), 2091-2091.
- An unusual complication of pregnancy. NEPHROL DIAL TRANSPL, 14(5), 1324-1326.
- An unusual complication of pregnancy.. Nephrol Dial Transplant, 14(5), 1324-1326.
- Cyst formation in ADPKD: new insights from natural and targeted mutants. NEPHROL DIAL TRANSPL, 14(3), 544-546.
- Cyst formation in ADPKD: new insights from natural and targeted mutants.. Nephrol Dial Transplant, 14(3), 544-546.
- Regional variations in endothelin-1 and its receptor subtypes in human coronary vasculature: pathophysiological implications in coronary disease.. Endothelium, 6(1), 61-70.
- Characterisation, cellular expression, tissue localisation and developmental modulation of the PKD-1 product, polycystin.. J AM SOC NEPHROL, 8, A1744-A1744.
- Polycystin expression in PKD-1, infantile PKD-1 and TSC-2/PKD-1 cystic kidney: Evidence against a two-hit disease mechanism in cyst initiation.. J AM SOC NEPHROL, 8, A1745-A1745.
- Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.. Am J Hum Genet, 60(6), 1399-1410.
- Molecular basis of renal cyst formation--one hit or two?. Lancet, 349(9058), 1039-1040.
- Renal disease. II. The polycystic kidney disease 1 (PKD-1) gene: an important clue in the study of renal cyst formation.. J R Coll Physicians Lond, 31(2), 141-146.
- The polycystic kidney disease 1 (PKD-1) gene: An important clue in the study of renal cyst formation. Journal of the Royal College of Physicians of London, 31(2), 141-146.
- Mutation defection in polycystic kidney disease 1 (PKD1) gene.. J AM SOC NEPHROL, 7(9), A1856-A1856.
- A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).. Hum Mol Genet, 5(4), 539-542.
- Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.. Proc Natl Acad Sci U S A, 93(4), 1524-1528.
- Candidate 56 and 58 kDa protein(s) responsible for mediating the renal defects in oncogenic hypophosphatemic osteomalacia.. Bone, 18(2), 159-169.
- Perspectives in endothelin research: tubulointerstitial actions of endothelins in the kidney: roles in health and disease.. Nephrol Dial Transplant, 11(2), 251-257.
- Surprising new roles for endothelins - Mutant mice reveal the first clear links to human disease. BRIT MED J, 312(7025), 195-196.
- Surprising new roles for endothelins.. BMJ, 312(7025), 195-196.
- Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. AM J HUM GENET, 58(1), 86-96.
- Surprising new roles for endothelins - Mutant mice reveal the first clear links to human disease. British Medical Journal, 312(7025), 195-196.
- Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.. Am J Hum Genet, 58(1), 86-96.
- CHARACTERIZATION OF THE POLYCYSTIC-KIDNEY-DISEASE-1 (PKD1) PROTEIN, POLYCYSTIN. J AM SOC NEPHROL, 6(3), 713-713.
- ENDOTHELIN DEPENDENT AND INDEPENDENT GROWTH SYSTEMS INVOLVED IN HUMAN PROXIMAL TUBULAR AUTOREGENERATION. J AM SOC NEPHROL, 6(3), 773-773.
- An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration.. Kidney Int, 48(2), 390-401.
- Oncogenous hypophosphataemic osteomalacia: effects on phosphate transport and vitamin D metabolism in cultured human kidney cells. Bone, 16(6), 679-679.
- A HYPOXIA-INDUCIBLE, ENDOTHELIN-1 MEDIATED, AUTOCRINE GROWTH LOOP INVOLVED IN HUMAN RENAL TUBULAR REGENERATION. KIDNEY INT, 47(2), 693-693.
- Cell-cell cross-talk in the pathogenesis of renal interstitial fibrosis. Kidney International, Supplement(49).
- Human high density lipoproteins stimulate endothelin-1 release by cultured human renal proximal tubular cells.. Kidney Int, 46(5), 1315-1321.
- AUTOREGENERATION OF HUMAN PROXIMAL TUBULAR CELLS MEDIATED BY A HYPOXIA-INDUCIBLE ENDOTHELIN-1 (ET-1) GROWTH LOOP. J AM SOC NEPHROL, 5(3), 699-699.
- HUMAN TUBULAR-DERIVED ENDOTHELIN IN THE PARACRINE REGULATION OF RENAL INTERSTITIAL FIBROBLAST FUNCTION. EXP NEPHROL, 2(2), 134-134.
- Tubular lipidosis: epiphenomenon or pathogenetic lesion in human renal disease?. Kidney Int, 45(3), 753-762.
- Human tubular-derived endothelin in the paracrine regulation of renal interstitial fibroblast function.. Exp Nephrol, 2(2), 134.
- Loss of glomerular function and tubulointerstitial fibrosis: cause or effect?. Kidney Int, 45(2), 345-351.
- Tubular-derived growth factors and cytokines in the pathogenesis of tubulointerstitial fibrosis: implications for human renal disease progression.. Am J Kidney Dis, 23(2), 205-209.
- Tubular-derived cytokines and human renal disease progression.. Nephrol Dial Transplant, 9(5), 471-472.
- Mechanisms of tubulo-interstitial injury in progressive renal diseases.. Eur J Clin Invest, 23(5), 259-265.
- Effect of cyclosporin A on endothelin synthesis by cultured human renal cortical epithelial cells.. Nephrol Dial Transplant, 8(8), 748-753.
- ISOLATION OF THE NA+/H+ ANTIPORTER GENE EXPRESSED IN HUMAN PROXIMAL TUBULE CELLS. DIABETOLOGIA, 35, A56-A56.
- TUBERCULOUS PERITONITIS COMPLICATING PERITONEAL-DIALYSIS - A CASE FOR EARLY DIAGNOSTIC LAPAROTOMY. NEPHROL DIAL TRANSPL, 7(5), 443-446.
- Tuberculous peritonitis complicating peritoneal dialysis: a case for early diagnostic laparotomy?. Nephrol Dial Transplant, 7(5), 443-446.
- Sinus arrest and asystole due to severe lithium intoxication.. Int J Cardiol, 30(3), 364-366.
- The pathogenesis of the ovarian hyperstimulation syndrome (OHS): a possible role for ovarian renin.. Clin Endocrinol (Oxf), 34(1), 43-49.
- EFFECTS OF NORADRENALINE INFUSION ON CARDIAC-OUTPUT AND SYSTOLIC-TIME INTERVALS DERIVED FROM ELECTRICAL BIOIMPEDANCE CARDIOGRAPHY. BRIT J CLIN PHARMACO, 29(5), P639-P640.
- Atrial natriuretic peptide release responds to atrial stretch and not to atrial pressure: observations during pericardiocentesis in a young woman.. Eur Heart J, 11(4), 368-371.
- Effects of noradrenaline infusion on cardiac output and systolic time intervals derived from electrical bioimpedance cardiography. British Journal of Clinical Pharmacology, 29(5).
- The use of lithium clearance in Bartter's syndrome.. Nephrol Dial Transplant, 5(10), 904-905.
- Effects of noradrenaline infusion on platelet catecholamine levels and platelet aggregation.. J Hypertens Suppl, 7(6), S166-S167.
- Intermittent absorption of warfarin caused by an unrecognized pharyngeal pouch.. Postgrad Med J, 65(767), 660-661.
- Hypersensitivity vasculitis complicating intravenous streptokinase therapy in acute myocardial infarction.. Int J Cardiol, 21(1), 71-73.
- Clinical Characteristics and Kidney Outcomes in Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. Kidney360.
- HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial. Trials, 25(1).
- Macrophage subpopulation identity in Drosophila is modulated by apoptotic cell clearance and related signalling pathways. Frontiers in Immunology, 14.
- Identification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing. Frontiers in Cell and Developmental Biology, 11, 1192935.
- Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review. Orphanet Journal of Rare Diseases, 18(1).
- Regional variation in tolvaptan prescribing across England: national data and retrospective evaluation from an expert centre. Clinical Kidney Journal.
- An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International. Nephrology Dialysis Transplantation.
- Tubulointerstitial actions of endothelins in the kidney: roles in health and disease. Nephrology Dialysis Transplantation.
- Ankhd1 enhances polycystic kidney disease development via promoting proliferation and fibrosis.
Chapters
- Autosomal dominant polycystic kidney disease, Oxford Textbook of Clinical Nephrology (pp. 2625-2626). Oxford University Press
- Autosomal dominant polycystic kidney disease, Oxford Textbook of Clinical Nephrology (pp. 2627-2633). Oxford University Press
- Genetics and Genomics of Chronic Kidney Disease, Genomic Medicine (pp. 369-392). Oxford University Press
- TRPP2 in Polycystic Kidney Disease, Pathologies of Calcium Channels (pp. 491-522). Springer Berlin Heidelberg
- Chronic Renal Disease, Genomics and Clinical Medicine (pp. 195-212). Oxford University PressNew York, NY
- Contributors, Medicine and Surgery (pp. xi-xii). Elsevier
Conference proceedings papers
- A Polycystin-1-Bicaudal C1 complex regulates focal adhesion function through integrin beta-1, F-actin organisation and local translation in HKE cells. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 39 (pp I219-I219)
- Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 39 (pp I213-I214)
- P73 Patients with polycystic liver disease have longer waiting times but better clinical outcomes following liver transplantation in the UK. Abstracts
- Patients with polcystic liver disease have longer waiting times but better clinical outcomes following liver transplantation in the UK. JOURNAL OF HEPATOLOGY, Vol. 77 (pp S814-S814)
- THE INTERACTION OF GENDER AND GENOTYPE IN THE DEVELOPMENT OF POLYCYSTIC LIVER DISEASE IN ADPKD. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 37 (pp I7-I7)
- FAMILIAL CLUSTERING OF A RARE UMOD VARIANT IN UNDIAGNOSED HEREDITARY NEPHROPATHY SUGGESTS THE PRESENCE OF A COMMON ANCESTRAL FOUNDER MUTATION. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 37 (pp I14-I15)
- FLANK PAIN HAS A MAJOR NEGATIVE IMPACT ON HEALTH-RELATED QUALITY OF LIFE IN ADPKD: THE CYSTIC I STUDY. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 36
- REDUCED QUALITY OF LIFE IN ADPKD PATIENTS WITH CKD STAGE 1-3: THE CYSTIC I QUALITY OF LIFE STUDY. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 35 (pp 98-98)
- SAT-442 Identification of exosome microRNAs as novel biomarkers for rapid disease progression in autosomal dominant polycystic kidney disease. Kidney International Reports, Vol. 5(3) (pp S185-S185). Abu Dhabi, United Arab Emirates, 26 March 2020 - 29 March 2020. View this article in WRRO
- CLINICAL PRESENTATION AND PROGNOSIS OF DNAJB11-ASSOCIATED NEPHROPATHY: AN INTERNATIONAL COLLABORATIVE STUDY. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 34
- GLOBAL MICRORNA PROFILING IN HUMAN URINARY EXOSOMES REVEALS NEW DISEASE BIOMARKERS AND CELLULAR PATHWAYS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD). NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 34
- Imaging of kidney cysts and cystic kidney diseases in children. Consensus paper by an ad hoc committee. Ultraschall in der Medizin, 14 November 2018 - 16 November 2018. View this article in WRRO
- PATIENT AND CAREGIVER BELIEFS, ATTITUDES AND PERSPECTIVES ON GENETIC SCREENING AND TESTING FOR AUTOSOMAL POLYCYSTIC KIDNEY DISEASE. NEPHROLOGY, Vol. 23 (pp 88-88)
- VERY EARLY-ONSET AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE DUE TO BI-ALLELIC MUTATIONS IN PKD1 AND PKD2. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 32 (pp 94-94)
- SO052DEVELOPMENT OF A RAPID SEMI-AUTOMATED TOOL TO MEASURE TOTAL KIDNEY VOLUME IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Nephrology Dialysis Transplantation, Vol. 31(suppl_1) (pp i22-i22) View this article in WRRO
- SELECTIVE PROSTAGLANDIN E2 RECEPTOR BLOCKADE FOR THE TREATMENT OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 31 (pp 22-23)
- The Cyclic AMP Signaling Pathway and Direct PKA Phosphorylation Regulate Polycystin-2 (TRPP2) Channel Function. Biophysical Journal, Vol. 110(3) (pp 611a-612a)
- FP064ASSESSING THE LONG TERM OUTCOMES OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD) USING THE ADPKD OUTCOMES MODEL: A UK CASE STUDY. Nephrology Dialysis Transplantation, Vol. 30(suppl_3) (pp iii85-iii86)
- INCREASED PSYCHOSOCIAL BURDEN AND ADVERSE QUALITY OF LIFE IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 30
- POLYCYSTIN-1 TRAFFICKING IS REGULATED BY CAMP DEPENDENT PHOSPHORYLATION OF THE PLAT DOMAIN. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 30
- DEVELOPMENT OF A MODEL TO PREDICT DISEASE PROGRESSION IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD). NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 29 (pp 75-75)
- PKD2 MUTANT ZEBRAFISH DISPLAY EXCESSIVE DEVELOPMENTAL ANGIOGENESIS. HEART, Vol. 97(20) (pp 12-12)
- Molecular genetic basis of inherited thrombocytopenia. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol. 7 (pp 342-342)
- Regulation of polycystin-1 mediated intercellular adhesion by phosphorylation in renal epithelia cells. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol. 14 (pp 575A-575A)
- A Ca2+-activated conductance in cultured mouse collecting duct cells.. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol. 14 (pp 80A-80A)
- Upregulation of polycystin-2 expression following experimental ischaemic renal injury.. J AM SOC NEPHROL, Vol. 13 (pp 113A-113A)
Preprints
- BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD, Cold Spring Harbor Laboratory.
- Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data, Cold Spring Harbor Laboratory.
- Macrophage subpopulation identity inDrosophilais modulated by apoptotic cell clearance and related signalling pathways, Cold Spring Harbor Laboratory.
- Barriers and facilitators to the implementation of guidelines in rare diseases: A systematic review, Research Square Platform LLC.
- Research group
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- Dr Andrew Streets
- Dr Manoj Valluru
- Dr Rebecca Walker
- Dr Joshua Griffiths
- Dr Matthew Gittus
- Dr Zhu Zhou
- Mr Patryk Zarecki
- Teaching activities
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I have had a long-standing commitment to postgraduate nephrology training especially to develop clinical and non-clinical academics in renal science and in enhancing nephrology training for young nephrologists for the developing ‘two-thirds’ world.
I served as Deputy Director for Clinical Academic Training at Sheffield (2020-2023), having previously served as Academic Programme Director for Nephrology. I was a member of the ISN Fellowship Committee (2019-2023), the Scientific Advisory Board of the ERA (2016-2022) and was a member of the UK Renal Association Executive committee as Chair of the International Committee (2009-2013).
- Professional activities and memberships
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National and International Committees
- European Renal Association – Council member
- European Renal Association - Scientific Program Chair 61st ERA Congress 2024
- MRC-NIHR Renal Ciliopathies National Network – Co-Director
- CYSTic Consortium – Chief investigator
- ADPKD in Europe Consortium - Co-chair
- European ADPKD Forum – Faculty member
Editorial Boards
- Faculty of 1000 Medicine, Nephrology faculty
- Theme Editor, Nephrology Dialysis Transplantation
Advisory Boards
- Mayo Translational PKD Centre, Mayo Clinic, Rochester - External Faculty
- Renal Genomic England Clinical Interpretation Partnership (GeCIP) – Co-chair for Cystic Diseases (2017-2023)
- National Institute for Clinical Excellence (NICE) Technology Appraisal of Tolvaptan for ADPKD - Nominated Clinical Expert (2013-2015)
National and International Guidelines
- UK Kidney Association Working Group for Tolvaptan in ADPKD – Chair
- Kidney Diseases Improving Global Outcomes (KDIGO) ADPKD Guideline Initiative – Working group and Theme lead
- Standardised Outcomes in Nephrology–PKD (SONG-PKD) – Steering committee