Newcastle University

Research Interests

kidney stones
Renal Physiology
Tubulopathies
Renal Cilia

Other Expertise

Confocal microscopy

Current Work

Chloride Channels and Renal Stones
Pyrophosphate and stone inhibition
Nephronophthisis
Renal cilia

Future Research

Cystic kidney disease
The genetics of renal stone formation
The renal cilia as a receptor

Research Roles

Ongoing collaboration with Prof N Simmons in ICAMB working on renal tubular physiology
Independant research group at IHG working on renal cystic disease
Collaborative work with Dr Colin Miles and Dr Bill Chaudhry at the IHG on genetic models of disease

Postgraduate Supervision

Dr Lorraine Eley
Dr Georgina Carr
Dr Shabbir Moochhala

Esteem Indicators

AEG Raine Award - Renal Association 2007
GSK Senior Fellowship Award

Funding

NKRF Project Grant 78K (2002)
NCKRF Research Grant 25K (2003)
Kidney Research UK (2004)
NCKRF Research Grant (2005)
Special Trustees, Newcastle Hospitals 48K (2005)
GSK Clinician Scientist 500K (2007)

Undergraduate Teaching

Nephrology Seminars and Clinical Nephrology Lecturer to Medical and Dental Students

Postgraduate Teaching

MRCP part1 Nephrology course
UCL Nephro-urology course

• Simms RJ, Eley L, Sayer JA. Nephronophthisis. European Journal of Human Genetics 2009, 17(4), 406-416.
• Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney International 2008, 74(9), 1139-1149.
• Eley L, Moochhala SH, Simms R, Hildebrandt F, Sayer JA. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochemical and Biophysical Research Communications 2008, 371(4), 877-882.
• Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics 2006. , 38(6), 674-681.
• Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics 2005. ,37 3 282-288.
• Al-Hamed M, Sayer JA, Al-Hassoun I, Al-Dahmash M, Meyer B. A Novel Mutation in NPHS2 Causing Steroid Resistant Nephrotic Syndrome in a Saudi Arabian Family. In: Pediatric Nephrology: 42nd Annual Scientific Meeting of the European Society for Paediatric Nephrology A Joint Meeting with the Renal Association. 2009, Birmingham, UK: Springer.
• Eley L, Simms RJ, Miles CG, Sayer JA. Development of a Novel Murine Model of Nephronophthisis. Pediatric Nephrology 2009, 24(9), 1802-1803.
• Sayer JA, Pearce SHS. Hypocalcemia with Hypercalciuria, Autosomal Dominant. In: Lang, F, ed. Encyclopedia of Molecular Mechanisms of Disease: An Encyclopedic Reference. Oxford: Springer, 2009.
• Sayer JA, Pearce SHS. Hypoparathyroidism, Familial. In: Lang F, ed. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer, 2009.
• Werner A, Sayer JA. Naturally occurring antisense RNA: function and mechanisms of action. Current Opinion in Nephrology & Hypertension 2009. 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA: LIPPINCOTT WILLIAMS & WILKINS, 18(4), 343-349.
• Tosetto E, Ceol M, Mezzabotta F, Ammenti A, Peruzzi L, Caruso MR, Barbano G, Vezzoli G, Colussi G, Vergine G, Giordano M, Glorioso N, Degortes S, Soldati L, Sayer J, D'Angelo A, Anglani F. Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. Clinical Genetics 2009, 76(4), 413-416.
• Simms RJ, Hawkins T, Sayer JA. Tc99m WCC identifies occult abscess in a polycystic kidney. Kidney International 2009. New York: Nature Publishing Group, 75(2), 246-246.
• Carr G, Moochhala SH, Eley L, Vandewalle A, Simmons NL, Sayer JA. The Pyrophosphate Transporter ANKH is Expressed in Kidney and Bone Cells and Colocalises to the Primary Cilium/Basal Body Complex. Cellular Physiology and Biochemistry 2009, 24(5-6), 595-604.
• Simms RJ, Torpey N, Kanagasundaram NS, Baines L, Sayer JA. Emphysematous pyelonephritis leading to end-stage renal failure. NDT Plus 2008, 1(4), 264-265.
• Schafer T, Putz M, Lienkamp S, Ganner A, Bergbreiter A, Ramachandran H, Gieloff V, Gerner M, Mattonet C, Czarnecki PG, Sayer JA, Otto EA, Hildebrandt F, Kramer-Zucker A, Walz G. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Human Molecular Genetics 2008, 17(23), 3655-3662.
• Alejmi A, Sayer JA. Multiple thyroid cysts as an extra-renal manifestation of ADPKD. NDT Plus 2008, 1(4), 266-267.
• Sayer JA, Haslam P, Brennan P. Parapelvic cysts leading to a diagnosis of Fabry disease. Kidney International 2008. 75 VARICK STREET, 9TH FLOOR, NEW YORK, NY 10013-1917 USA: NATURE PUBLISHING GROUP, 74(10), 1366.
• Sayer JA, Carr G, Moochhala SH, Simmons NL. Pyrophosphate Transport and Stones. In: Renal Stone Disease: No. 2: 2nd International Urolithiasis Research Symposium. 2008, Indianapolis, IN: American Institute of Physics.
• Sayer JA. The Genetics of Nephrolithiasis. Nephron Experimental Nephrology 2008. ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND: KARGER, 110(2), E37-E43.
• Krishnan R, Eley L, Sayer JA. Urinary concentration defects and mechanisms underlying nephronophthisis. Kidney and Blood Pressure Research 2008. , 31(3), 152-162.
• Carr G, Sayer JA, Simmons NL. Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cellular Physiology and Biochemistry 2007, 20(5), 507-516.
• Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nature Genetics 2007. , 39(8), 1018-1024.
• Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome. Journal of Medical Genetics 2007, 44(10), 657-663.
• Wolf MTF, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney International 2007, 72(12), 1520-1526.
• Sewpaul A, Sayer JA, Mohamed MAS, Ahmed A, Shaw M, Prabhu VR, Wood K, Jones NA, Talbot D, Kanagasundaram NS. Rapid onset intratubular calcification following renal transplantation requiring urgent parathyroidectomy. Clinical Nephrology 2007, 68(1), 47-51.
• Sayer JA. Acute renal failure from contrast medium - Beware patients taking metformin.... British Medical Journal 2006. ,333 7569 653.
• Carr G, Simmons NL, Sayer JA. Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells. Cellular and Molecular Life Sciences 2006, 63(3), 367-377.
• Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatric Nephrology 2006, 21(1), 32-35.
• Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Human Molecular Genetics 2006,15 11 1847-1857.
• Hildebrandt F, Sayer JA. The Medullary Cystic Kidney Disease: Nephronophthisis Complex. In:Shrier, R., ed. Diseases of the Kidney and Urinary Tract: Clinicopathologic Foundations of Medicine.Philadelphia, USA; London, UK:Lippincott Williams and Wilkins,2006.
• Sayer JA, Carr G, Simmons NL. Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2004,1689 1 83-90.
• Moore I, Sayer JA, Nayar A, Ahmed S, Tapson JS. Pantoprazole-induced acute interstitial nephritis. Journal of Nephrology 2004,17 4 580-581.
• Sayer JA, Carr G, Pearce SHS, Goodship THJ, Simmons NL. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochemical and Biophysical Research Communications 2003,300 2 305-310.
• Sayer JA, Pearce SHS. Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes. Clinical Endocrinology 2003. ,59 4 419-421.
• Sayer JA, Bhatti AA, Jaques B, Nesbitt I. Hyperammonaemic coma post-renal transplantation. Clinical Intensive Care 2003,14 1-2 37-40.
• Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA. A meckelinfilamin A interaction mediates ciliogenesis. HUMAN MOLECULAR GENETICS 2012, 21(6), 1272-1286.
• Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee NY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Ysunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Joles JA, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Otto EA, Hildebrandt F. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012. In Press.
• Hynes AM, Sayer JA. Is there anything good in uric acid?. QJM 2012, 105(4), 395-395.
• Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GCP, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang XJ, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human Mutation 2012, 33(3), 457-466.
• Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MTF. Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD. American Journal of Kidney Diseases 2011, 58(5), 821-825.
• Tasic V, Hynes AM, Kitamura K, Il Cheong H, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, Sayer JA. Clinical and Functional Characterization of URAT1 Variants. PLoS One 2011, 6(12), e28641.
• Tasic V, Lozanovski VJ, Gucev Z, Blau N, Cheong HI, Sayer JA. Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly. Pediatric Nephrology 2011, 26(12), 2153-2157.
• Simms RJ, Sayer JA, Quinton R, Walker M, Ellard S, Goodship THJ. Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. QJM 2011, 104(10), 881-883.
• Simms RJ, Hynes AM, Eley L, Sayer JA. Nephronophthisis: a genetically diverse ciliopathy. International Journal of Nephrology 2011, 527137.
• Sayer J. Renal stone disease. Nephron - Physiology 2011, 118(1), 35-44.
• Al-Hamed M, Sayer J, Al-Hassoun I, Aldahmesh M, Meyer B. A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family. NDT Plus 2010, 3(6), 545-548.
• Shawcross J, Sayer J. Secondary hyperparathyroidism in a poorly compliant patient. QJM 2010, 103(2), 125.
• Sayer J, Moochhala S, Thomas D. The medical management of urolithiasis. British Journal of Medical and Surgical Urology 2010, 3(3), 87-95.
• Sayer J, Hogg P. Biochemical abnormalities in renal stone formers attending for lithotripsy. In: XLIV Congress of the European Renal Association European Dialysis and Transplant Association (ERA-EDTA). 2007, Barcelona, Spain: OXFORD UNIV PRESS.
• Moore I, Ahmed S, Sayer JA, Ward MK. Digital ischaemia in a renal transplant patient. Nephrology Dialysis Transplantation 2004, 19(6), 1656-1657.
• Carr G, Sayer JA, Simmons NL. Altered CLC-5 expression in mouse inner medullary collecting duct cells disrupts endocytosis and promotes calcium oxalate crystal adhesion. In: Journal of Physiology: Meeting of the Physiological Society. 2002, Leeds, UK: Wiley-Blackwell Publishing Ltd.
• Sayer JA, Carr G, Simmons NL, Goodship THJ. Antisense CLC-5 disrupts acidic endosomes and endocytosis in murine collecting duct cells. Journal of the American Society of Nephrology 2002, 13(supplement), 306A.
• Morgan D, Eley L, Sayer J, Strachan T, Yates LM, Craighead AS, Goodship JA. Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle. Human Molecular Genetics 2002, 11(26), 3345-3350.
• Boese S, Sayer J, Stewart G, Glanville M, Gray MA, Simmons NL. Renal expression of Ca2+-activated Cl- channels. Current Topics in Membranes 2002, 53, 283-307.
• Boese S, Sayer J, Stewart G, Glanville M, Gray MA, Simmons NL. Renal expression of Ca2+-activated Cl- channels. In: Fuller, C.M, ed. Calcium-Activated Chloride Channels. Amsterdam & London: Academic Press, 2002, pp.283-307.
• Sayer JA, Simmons NL. Urinary stone formation: Dent's disease moves understanding forward. Experimental Nephrology 2002, 10(3), 176-181.
• Sayer JA, Pearce SHS. Diagnosis and clinical biochemistry of inherited tubulopathies. Annals of Clinical Biochemistry 2001, 38(5), 459-470.
• Sayer JA, Stewart GS, Boese SH, Gray MA, Pearce SHS, Goodship THJ, Simmons NL. The voltage-dependent of Cl- channel ClC-5 and plasma membrane Cl- conductances of mouse renal collecting duct cells (mIMCD-3). Journal of Physiology 2001, 536(3), 769-783.
• Sayer J, Stewart G, Boese SH, Gray MA, Simmons NL. Cellular location and functional analysis of a murine C1(-) channel expressed in a human embryonic kidney cell line (HEK). In: JOURNAL OF PHYSIOLOGY-LONDON. 2000.