Dr. John Andrew Sayer

Senior Lecturer
Newcastle University, UK

Highest Degree
Ph.D. in Physiological Sciences from Newcastle University, UK

My URL
https://livedna.org/44.5628

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Biography

Dr. John Andrew Sayer is currently working as Senior Clinical Lecturer in Nephrology at Institute of Genetic Medicine, Newcastle University, Central Parkway. He has completed his Ph.D. in Physiological Sciences from same University. His main area of interest focuses on Molecular Sciences. His area of expertise includes Nephrology, Cilia, Renal Stones, Genetics, Renal Tubules, Cystinuria, Zebrafish, Collecting Ducts, Bartter’s Syndrome, Cystic Kidney Disease, and Nephronophthisis. He has 51 publications in journals contributed as author/co-author.

Area of Interest:

Molecular Sciences
Nephrology
Genetics
Physiology
Nephronophthisis

Selected Publications

  1. Brady, M., E. Montgomery, P. Brennan, R. Mohindra and J.A. Sayer, 2013. Diagnosing fabry disease--delays and difficulties within discordant siblings. QJM, 10.1093/qjmed/hct024.
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  2. Al-Hamed, M.H., E. Al-Sabban, H. Al-Mojalli, N. Al-Harbi and E. Faqeih et al., 2013. A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. J. Hum. Genet., 58: 480-489.
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  3. Simms, R.J., A.M. Hynes, L. Eley, D. Inglis, B. Chaudhry, H.R. Dawe and J.A. Sayer, 2012. Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol. Life Sci., 69: 993-1009.
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  4. Korkmaz, C. and J.A. Sayer, 2012. ANKH and renal stone formation in ankylosing spondylitis. J. Rheumatol., 39: 1756-1756.
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  5. Hynes, A.M. and J.A. Sayer, 2012. Is there anything good in uric acid? QJM, 105: 395-395.
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  6. Cheng, Y.Z., L. Eley, A.M. Hynes, L.M. Overman and R.J. Simms et al., 2012. Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One, Vol. 7, 10.1371/journal.pone.0044975.
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  7. Chaki, M., R. Airik, A.K. Ghosh, R.H. Giles and R. Chen et al., 2012. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell, 3: 533-548.
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  8. Brooks, A.M., M. Owens, J.A. Sayer, M. Salzmann, S. Ellard and B. Vaidya, 2012. Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. QJM, 105: 791-794.
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  9. Bower M., R. Salomon, J. Allanson, C. Antignac and F. Benedicenti et al., 2012. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum. Mutat., 33: 457-466.
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  10. Adams, M., R.J. Simms, Z. Abdelhamed, H.R. Dawe and K. Szymanska et al., 2012. A meckelin-filamin A interaction mediates ciliogenesis. Hum. Mol. Genet., 21: 1272-1286.
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  11. Tasic, V., V.J. Lozanovski, Z. Gucev, N. Blau, H.I. Cheong and J.A. Sayer, 2011. Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly-questions. Pediatr Nephrol., 26: 2153-2157.
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  12. Tasic, V., A.M. Hynes, K. Kitamura, H.I. Cheong and V.J. Lozanovski et al., 2011. Clinical and functional characterization of URAT1 variants. PLoS One, Vol. 6, 10.1371/journal.pone.0028641.
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  13. Simms, R.J., J.A. Sayer, R. Quinton, M. Walker, S. Ellard and T.H. Goodship, 2011. Monogenic diabetes, renal dysplasia and hypopituitarism: A patient with a HNF1A mutation. QJM, 104: 881-883.
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  14. Simms, R.J., A.M. Hynes, L. Eley and J.A. Sayer, 2011. Nephronophthisis: A genetically diverse ciliopathy. Int. J. Nephrol., Vol. 2011 10.4061/2011/527137.
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  15. Sayer, J.A., 2011. Renal stone disease. Nephron Physiol., 118: 35-44.
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  16. Beck, B.B., H. Trachtman, M. Gitman, I. Miller and J.A. Sayer et al., 2011. Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia and CKD. Am. J. Kidney Dis., 58: 821-825.
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  17. Zaucke, F., J.M. Boehnlein, S. Steffens, R.S. Polishchuk and L. Rampoldi et al., 2010. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum. Mol. Genet., 19: 1985-1997.
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  18. Simms, R.J. and J.A. Sayer, 2010. Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? Pediatr Radiol., 40: 1581-1581.
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  19. Shawcross, J.S. and J.A. Sayer, 2010. Secondary hyperparathyroidism in a poorly compliant patient. QJM, 103: 125-125.
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  20. O'Toole, J.F., Y. Liu, E.E. Davis, C.J. Westlake and M. Attanasio et al., 2010. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest., 120: 791-802.
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  21. Werner, A. and J.A. Sayer, 2009. Naturally occurring antisense RNA: Function and mechanisms of action. Curr. Opin. Nephrol. Hypertens., 18: 343-934.
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  22. Simms, R.J., T. Hawkins and J.A. Sayer, 2009. Tc99m WCC identifies occult abscess in a polycystic kidney. Kidney Int., 75: 246-246.
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  23. Simms, R.J., L. Eley and J.A. Sayer, 2009. Nephronophthisis. Eur. J. Hum. Genet., 17: 406-416.
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  24. Carr, G., S.H. Moochhala, L. Eley, A. Vandewalle, N.L. Simmons and J.A. Sayer, 2009. The pyrophosphate transporter ANKH is expressed in kidney and bone cells and colocalises to the primary cilium/basal body complex. Cell Physiol. Biochem., 24: 595-604.
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  25. Schafer, T., M. Putz, S. Lienkamp, A. Ganner and A. Bergbreiter et al., 2008. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum. Mol. Genet., 17: 3655-3662.
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  26. Sayer, J.A., P. Haslam and P. Brennan, 2008. Parapelvic cysts leading to a diagnosis of Fabry disease. Kidney Int., 74: 1366-1366.
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  27. Sayer, J.A., 2008. The genetics of nephrolithiasis. Nephron. Exp. Nephrol., 110: e37-e43.
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  28. Moochhala, S.H., J.A. Sayer, G. Carr and N.L. Simmons, 2008. Renal calcium stones: Insights from the control of bone mineralization. Exp. Physiol., 93: 43-49.
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  29. Krishnan, R., L. Eley and J.A. Sayer, 2008. Urinary concentration defects and mechanisms underlying nephronophthisis. Kidney Blood Press. Res., 31: 152-162.
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  30. Eley, L., S.H. Moochhala, R. Simms, F. Hildebrandt and J.A. Sayer, 2008. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochem. Biophys Res. Commun., 371: 877-882.
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  31. Eley, L., C. Gabrielides, M. Adams, C.A. Johnson, F. Hildebrandt and J.A. Sayer, 2008. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int., 74: 1139-1149.
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  32. Wolf, M.T., S. Saunier, J.F. O'Toole, N. Wanner and T. Groshong et al., 2007. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Kidney Int., 72: 1520-1526.
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  33. Sewpaul, A., J.A. Sayer, M.A. Mohamed, A. Ahmed and M. Shaw et al., 2007. Rapid onset intratubular calcification following renal transplantation requiring urgent parathyroidectomy. Clin. Nephrol., 68: 47-51.
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  34. Helou, J., E.A. Otto, M. Attanasio, S.J. Allen and M.A. Parisi et al., 2007. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J. Med. Genet., 44: 657-663.
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  35. Carr, G., J.A. Sayer and N.L. Simmons, 2007. Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cell Physiol. Biochem., 20: 507-516.
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  36. Attanasio, M., N.H. Uhlenhaut, V.H. Sousa, J.F. O'Toole and E. Otto et al., 2007. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat. Genet., 39: 1018-1024.
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  37. Utsch, B., J.A. Sayer, M. Attanasio, R.R. Pereira and M. Eccles et al., 2006. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr. Nephrol., 21: 32-35.
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  38. Sayer, J.A., E.A. Otto, J.F. O'Toole, G. Nurnberg and M.A. Kennedy et al., 2006. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet., 38: 674-681.
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  39. Sayer, J.A., 2006. Acute renal failure from contrast medium: Beware patients taking metformin. BMJ, 333: 653-653.
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  40. Chang, B., H. Khanna, N. Hawes, D. Jimeno and S. He et al., 2006. 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. Hum. Mol. Genet., 15: 1874-1877.
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  41. Carr, G., N.L. Simmons and J.A. Sayer, 2006. Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells. Cell Mol. Life Sci., 63: 367-377.
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  42. Otto, E.A., B. Loeys, H. Khanna, J. Hellemans and R. Sudbrak et al., 2005. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat. Genet., 37: 282-288.
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  43. Sayer, J.A., G. Carr and N.L. Simmons, 2004. Nephrocalcinosis: Molecular insights into calcium precipitation within the kidney. Clin. Sci. (Lond), 106: 549-561.
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  44. Sayer, J.A., G. Carr and N.L. Simmons, 2004. Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells. Biochim. Biophys. Acta, 1689: 83-90.
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  45. Moore, I., S. Ahmed, J.A. Sayer and M.K. Ward, 2004. Digital ischaemia in a renal transplant patient. Nephrol. Dial. Transplant., 19: 1656-1657.
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  46. Moore, I., J.A. Sayer, A. Nayar, S. Ahmed and J.S. Tapson, 2004. Pantoprazole-induced acute interstitial nephritis. J. Nephrol., 17: 580-581.
    PubMed  |  

  47. Sayer, J.A., G. Carr, S.H. Pearce, T.H. Goodship and N.L. Simmons, 2003. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochem. Biophys. Res. Commun., 3000: 305-310.
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  48. Sayer J.A. and S.H. Pearce, 2003. Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes. Clin. Endocrinol. (Oxf), 59: 419-421.
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  49. Sayer, J.A. and N.L. Simmons, 2002. Urinary stone formation: Dent's disease moves understanding forward. Exp. Nephrol., 10: 176-181.
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  50. Sayer, J.A., G.S. Stewart, S.H. Boese, M.A. Gray, S.H. Pearce, T.H. Goodship and N.L. Simmons, 2001. The voltage-dependent Cl- channel ClC-5 and plasma membrane Cl- conductances of mouse renal collecting duct cells (mIMCD-3). J. Physiol., 536: 769-783.
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  51. Sayer, J.A. and S.H. Pearce, 2001. Diagnosis and clinical biochemistry of inherited tubulopathies. Ann. Clin. Biochem., 38: 459-470.
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