Professor Albert Ong
DM, MA, FRCP
Department of Infection, Immunity and Cardiovascular Disease
Professor of Renal Medicine
+44 114 215 9542
Full contact details
Department of Infection, Immunity and Cardiovascular Disease
The Medical School
Beech Hill Road
Sheffield
S10 2RX
- Profile
-
Albert Ong is Professor of Renal Medicine, Head of Academic Nephrology and Deputy Director for Clinical Academic Training at the University of Sheffield. He was educated at the University of Oxford and completed postgraduate medical training at University College London and Oxford.
Following doctoral studies in cell biology at UCL, he completed a postdoctoral fellowship in genetics at Oxford (KRUK Senior Research Fellow, Harris lab, Weatherall Institute of Molecular Medicine) before taking up a new Faculty position at the University of Sheffield. He was later awarded a major Wellcome Trust Research Leave Award to establish an independent research programme at Sheffield where his main focus has been to investigate the molecular basis of cyst formation, drug discovery and translational medicine in ADPKD.
He served as the main clinical expert to the NICE appraisal panel for the use of Tolvaptan in ADPKD and chaired the Renal Association Working Group which developed the first clinical guidance for its adoption and use in the UK. He is Chief Investigator of the PKD International Consortium (CYSTic) and serves on several international editorial boards, steering groups and scientific advisory committees including the ERA-EDTA Scientific Advisory Board, the ISN Fellowship Committee and the Mayo Clinic Translational PKD Centre (USA).
- Research interests
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The major research goals of my laboratory have been to define the molecular basis of autosomal dominant polycystic kidney disease (ADPKD), discover, develop and test new treatments and to improve the patient care pathway. We have defined the critical molecular interactions necessary for the formation, trafficking, regulation and function of the polycystin-1/polycystin-2 ADPKD protein complex and have identified several key binding partners, changes in cellular function and signalling resulting from the disease phenotype.
These findings are being used to develop new therapeutic approaches in experimental models to inhibit cyst formation or expansion with the ultimate goal of clinical translation. The clinical research programme has focussed on improving the patient pathway for patients and families with ADPKD. I am a founding member of the European ADPKD Forum which seeks to improve the multidisciplinary care for ADPKD patients across Europe through the adoption of agreed standards and an accepted patient care pathway.
Among several initiatives, we established the first UKGTN-approved comprehensive genetic diagnostic service for PKD1 and PKD2 in collaboration with the Sheffield Genetic Diagnostic Service in 2009 which has developed into an internationally used NGS panel for cystic diseases. We are an integral part of the Yorkshire and Humber Genome Medicine Centre (GMC) and the UK Renal GeCIP investigating genetic causes of rare kidney diseases as part of the UK 100K Genomes Project. We have also developed a new genetic psychosocial risk instrument for PKD (GPRI-PKD) and a semi-automated method for measuring total kidney volume from MRI (Sheffield TKV Tool).
Current projects:
- Understanding the molecular basis of polycystic kidney disease.
- Identifying new therapeutic targets for ADPKD in experimental models.
- Improving diagnosis, prognosis and clinical outcomes in ADPKD.
- Publications
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Show: Featured publications All publications
Featured publications
Journal articles
- 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).
- Cellular signaling in PKD: foreword. Cellular Signalling, 71. 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. 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. View this article in WRRO
- 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
- Tolvaptan slows disease progression in late-stage ADPKD. Nature Reviews Nephrology, 14(3), 146-148.
- 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 : JASN, 28(10), 2973-2984. View this article in WRRO
- 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.
- 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.
- 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
- 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
- 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).
- 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
- 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
- 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. 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. 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
- SaO005CLINICAL PRESENTATION AND PROGNOSIS OF DNAJB11-ASSOCIATED NEPHROPATHY: AN INTERNATIONAL COLLABORATIVE STUDY. Nephrology Dialysis Transplantation, 34(Supplement_1).
- FO026GLOBAL MICRORNA PROFILING IN HUMAN URINARY EXOSOMES REVEALS NEW DISEASE BIOMARKERS AND CELLULAR PATHWAYS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD). Nephrology Dialysis Transplantation, 34(Supplement_1).
- 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 : JASN, 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.
- 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.
- Endothelin in polycystic kidney disease.. Contrib Nephrol, 172, 200-209.
- 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.
- 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.
- Expression and cellular localisation of renal endothelin-1 and endothelin receptor subtypes in autosomal-dominant polycystic kidney disease. NEPHRON EXP NEPHROL, 93(2), E80-E86.
- 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.
- 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-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.
- Characterisation and expression of the PKD-1 protein, polycystin, in renal and extrarenal tissues.. Kidney Int, 55(5), 2091-2116.
- 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 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.
- 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.
- 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.. BMJ, 312(7025), 195-196.
- Tubulointerstitial actions of endothelins in the kidney: Roles in health and disease. Nephrology Dialysis Transplantation, 11(2), 251-257.
- 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.
- Human high density lipoproteins stimulate endothelin-1 release by cultured human renal proximal tubular cells.. Kidney Int, 46(5), 1315-1321.
- Tubular lipidosis: epiphenomenon or pathogenetic lesion in human renal disease?. Kidney Int, 45(3), 753-762.
- 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.
- 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.
- 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.
- 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.
- 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
Conference proceedings papers
- 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
- 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
- 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
- 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)
- POLYCYSTIN-1 TRAFFICKING IS REGULATED BY CAMP DEPENDENT PHOSPHORYLATION OF THE PLAT DOMAIN. NEPHROLOGY DIALYSIS TRANSPLANTATION, Vol. 30
- PKD2 MUTANT ZEBRAFISH DISPLAY EXCESSIVE DEVELOPMENTAL ANGIOGENESIS. HEART, Vol. 97(20) (pp 12-12)
- Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in Medicine.
- Research group
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- Dr Andrew Streets
- Dr Manoj Kumar Valluru
- Dr Maryam Ahmadi
- Ms Lisa Chang
- Dr Jean Winterbottom
- Dr Joshua Griffiths
PhD Students
- Elliot Brooks (with Iwan Evans)
- Jiehan Chong (with David Beech)
- Teaching interests
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Education and Training
I am Academic Programme Director for Nephrology and Deputy Director for Clinical Academic Training at the University of Sheffield. I previously served as a Board member of the EU FP7 TRANCYST initial training network and the ERA-EDTA Working Group on Inherited Kidney Diseases (WGIKD).
My wider educational interests concern the support and advancement of nephrology in the developing world. I am a member of the ISN Fellowship Committee and was previously Chair of the Renal Association International Committee (2009-2013).
I have hosted an ISN Sister Centre, several International Society of Nephrology (ISN) fellows and am an ISN Educational Ambassador.
- Professional activities
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National and International Committees
- CYSTic Consortium – Chief Investigator.
- ADPKD in Europe Consortium - Co-chair.
- European ADPKD Forum – Faculty member.
- ISN Fellowship committee.
- UK Kidney Research Consortium (UKKRC) Clinical Study Group on Cystic Kidney Diseases - Chair (2009-2014), Deputy Chair (2014-2020)
- Renal Association International Committee - Chair (2009-2013), Committee member.
Editorial Boards
- Editor, Nature Scientific Reports.
- Theme Editor, Nephrology Dialysis Transplantation.
- Review Editor, Frontiers in Pharmacology.
- Faculty of 1000 Medicine, Nephrology faculty.
- Subject Editor, Nephrology.
- Deputy Editor, Nephron Clinical Practice (2008-2012).
- Associate Editor, BMC Nephrology (2008-2012).
Advisory Boards
- ERA-EDTA Scientific Advisory Board.
- Mayo Translational PKD Centre, Mayo Clinic, Rochester - External Faculty.
- National Institute for Clinical Excellence (NICE) Technology Appraisal of Tolvaptan for ADPKD - Nominated Clinical Expert (2013-2015).
- Renal Genomic England Clinical Interpretation Partnership (GeCIP) – Co-chair for Cystic Diseases.
- Federation of European Associations of Patients Affected by Genetic Diseases (FEDERG) - Scientific Council.
- UK Chinese Life Scientists Society – Fellow.
National and International Guidelines
- Standardised Outcomes in Nephrology –PKD (SONG-PKD) – Steering committee.
- PKD Outcomes Consortium (PKDOC) – Committee.
- Renal Association Working Group for Tolvaptan in ADPKD – Chair.
- ERA-EDTA Guidance for Tolvaptan in ADPKD – Committee.
- KDIGO Controversies Conference on ADPKD – Invited participant and discussant (2014).