All Stories

  1. Case Report: Renal potassium wasting in SARS-CoV-2 infection

    Article • F1000Research, June 2020, Faculty of 1000, Ltd.

    Professor John A Sayer, Hilary Tedd

  2. Embryonic and foetal expression patterns of the ciliopathy gene CEP164

    Article • PLoS ONE, January 2020, PLOS

    Professor John A Sayer

  3. Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease

    Article • Case Reports in Nephrology, January 2017, Hindawi Publishing Corporation

    Professor John A Sayer

  4. End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

    Article • International Journal of Nephrology, January 2017, Hindawi Publishing Corporation

    Professor John A Sayer

  5. Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome

    Article • F1000Research, May 2016, Faculty of 1000, Ltd.

    Professor John A Sayer

  6. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

    Article • Clinical Journal of the American Society of Nephrology, January 2016, American Society of Nephrology

    Professor John A Sayer, Jennifer D Varner

  7. Nephronophthisis

    Article • October 2015, Oxford University Press (OUP)

    Professor John A Sayer, Professor John Sayer

  8. Autosomal dominant interstitial kidney disease including medullary cystic disease

    Article • October 2015, Oxford University Press (OUP)

    Professor John A Sayer, Professor John Sayer

  9. Nephronophthisis and medullary cystic kidney disease

    Article • October 2015, Oxford University Press (OUP)

    Professor John A Sayer, Professor John Sayer

  10. Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles

    Article • F1000Research, August 2015, Faculty of 1000, Ltd.

    Professor John A Sayer

  11. Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis

    Article • European Urology, July 2015, Elsevier

    Professor John A Sayer

  12. Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

    Article • BMC Medical Genetics, June 2015, Springer Science + Business Media

    Professor John A Sayer

  13. Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole: Fig. 1.

    Article • Clinical Kidney Journal, May 2015, Oxford University Press (OUP)

    Professor John A Sayer

  14. Clinical and Genetic Analysis of Patients with Cystinuria in the United Kingdom

    Article • Clinical Journal of the American Society of Nephrology, May 2015, American Society of Nephrology

    Professor John A Sayer

  15. CYP24A1 mutation leading to nephrocalcinosis

    Article • Kidney International, June 2014, Elsevier

    Professor John A Sayer

  16. The challenges and surprises of a definitive molecular genetic diagnosis

    Article • Kidney International, April 2014, Elsevier

    Professor John A Sayer

  17. Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity

    Article • Physiological Reports, November 2013, Wiley

    Professor John A Sayer

  18. Nephronophthisis

    Article • September 2013, Oxford University Press (OUP)

    Professor John A Sayer, Professor John Sayer

  19. Nephronophthisis

    Article • March 2013, Future Medicine

    Professor John A Sayer

  20. Renal Potassium Handling and Associated Inherited Tubulopathies Leading to Hypokalemia

    Article • March 2012, IntechOpen

    Professor John A Sayer

  21. Clinical and Functional Characterization of URAT1 Variants

    Article • PLoS ONE, December 2011, PLOS

    Professor John A Sayer

  22. Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

    Article • Cellular and Molecular Life Sciences, September 2011, Springer Science + Business Media

    Professor John A Sayer

  23. Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly—questions

    Article • Pediatric Nephrology, March 2011, Springer Science + Business Media

    Professor John A Sayer

  24. Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly: answers

    Article • Pediatric Nephrology, March 2011, Springer Science + Business Media

    Professor John A Sayer

  25. Renal Stone Disease

    Article • Nephron Physiology, January 2011, Karger Publishers

    Professor John A Sayer

  26. Nephronophthisis: A Genetically Diverse Ciliopathy

    Article • International Journal of Nephrology, January 2011, Hindawi Publishing Corporation

    Professor John A Sayer

  27. Juvenile nephronophthisis on MRI—a potential case of Joubert syndrome?

    Article • Pediatric Radiology, May 2010, Springer Science + Business Media

    Professor John A Sayer

  28. The medical management of urolithiasis

    Article • British Journal of Medical and Surgical Urology, May 2010, SAGE Publications

    Professor John A Sayer

  29. Naturally occurring antisense RNA: function and mechanisms of action

    Article • Current Opinion in Nephrology & Hypertension, July 2009, Wolters Kluwer Health

    Professor John A Sayer

  30. Tc99m WCC identifies occult abscess in a polycystic kidney

    Article • Kidney International, January 2009, Elsevier

    Professor John A Sayer

  31. The Pyrophosphate Transporter ANKH is Expressed in Kidney and Bone Cells and Colocalises to the Primary Cilium/Basal Body Complex

    Article • Cellular Physiology and Biochemistry, January 2009, Karger Publishers

    Professor John A Sayer

  32. Nephronophthisis

    Article • European Journal of Human Genetics, December 2008, Nature

    Professor John A Sayer

  33. Jouberin localizes to collecting ducts and interacts with nephrocystin-1

    Article • Kidney International, November 2008, Elsevier

    Professor John A Sayer

  34. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct

    Article • Biochemical and Biophysical Research Communications, July 2008, Elsevier

    Professor John A Sayer

  35. The Genetics of Nephrolithiasis

    Article • Nephron Experimental Nephrology, January 2008, Karger Publishers

    Professor John A Sayer

  36. Urinary Concentration Defects and Mechanisms Underlying Nephronophthisis

    Article • Kidney and Blood Pressure Research, January 2008, Karger Publishers

    Professor John A Sayer

  37. Pyrophosphate Transport and Stones

    Article • January 2008, American Institute of Physics

    Professor John A Sayer

  38. Expression and Localisation of the Pyrophosphate Transporter, ANK, in Murine Kidney Cells

    Article • Cellular Physiology and Biochemistry, January 2007, Karger Publishers

    Professor John A Sayer

  39. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

    Article • Pediatric Nephrology, October 2005, Springer Science + Business Media

    Professor John A Sayer, Mike Eccles

  40. Nephrocalcinosis: molecular insights into calcium precipitation within the kidney

    Article • Clinical Science, June 2004, Portland Press Ltd.

    Professor John A Sayer

  41. A role for CBS domain 2 in trafficking of chloride channel CLC-5

    Article • Biochemical and Biophysical Research Communications, October 2003, Elsevier

    Professor John A Sayer

  42. Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes

    Article • Clinical Endocrinology, September 2003, Wiley

    Professor John A Sayer

  43. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells

    Article • Biochemical and Biophysical Research Communications, January 2003, Elsevier

    Professor John A Sayer

  44. Urinary Stone Formation: Dent’s Disease Moves Understanding Forward

    Article • Nephron Experimental Nephrology, May 2002, Karger Publishers

    Professor John A Sayer