List of works - John A. Sayer

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

scientific article published on 11 September 2017

A meckelin-filamin A interaction mediates ciliogenesis

scientific article

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

scientific article published on 18 April 2013

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

scientific article

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

scientific article published on 26 August 2010

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

scientific article published on October 17, 2003

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

scientific article published on 23 June 2013

ANKH and renal stone formation in ankylosing spondylitis

scientific article published on 01 August 2012

ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses

scientific article published on 11 December 2019

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

scientific article

Acute renal failure from contrast medium: beware patients taking metformin...

scientific article published in September 2006

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

scientific article

Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells.

scientific article published on May 2004

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome

scientific article published on 12 May 2016

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia

scientific article published on 15 May 2019

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives

scientific article published on 12 April 2017

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

scientific article published on 30 June 2020

Chondrocalcinosis and Gitelman syndrome.

scientific article published on 29 March 2016

Clinical and functional characterization of URAT1 variants

scientific article (publication date: 2011)

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

scientific article published in June 2018

Diagnosing Fabry disease--delays and difficulties within discordant siblings.

scientific article published in February 2013

Digital ischaemia in a renal transplant patient.

scientific article published on June 2004

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders

scientific article published on 05 March 2020

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

scientific article

Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells

scientific article

Electrolyte Disturbances in SARS-CoV-2 Infection

scientific article published on 10 June 2020

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

scientific article published on 28 January 2020

Emphysematous pyelonephritis leading to end-stage renal failure

scientific article published on 14 February 2008

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

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

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

scientific article published in December 2002

Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells.

scientific article published on January 2007

Extracellular calcium‐sensing receptor dysfunction is associated with two new phenotypes ⬇️

scientific article published on 01 October 2003

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly

scientific article published on 01 March 2011

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

scientific article published on 20 August 2020

From disease modelling to personalised therapy in patients with CEP290 mutations

scientific article

Functional modelling of a novel mutation in BBS5.

scientific article published on 21 February 2014

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

scientific journal article

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

scientific article

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

scientific article published on 6 November 2017

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

scientific article published on 12 July 2018

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

scientific article

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

scientific article

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

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome

scientific article

Is there anything good in uric acid?

scientific article published on 20 January 2012

Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?

scientific article

Kidney traits on repeat—the role of MUC1 VNTR

scientific article published in 2022

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

scientific article published on 18 October 2017

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

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

scientific journal article

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

scientific article published on 30 August 2019

Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation

scientific article published on 04 November 2010

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

scientific article published on 26 December 2019

Multiple thyroid cysts as an extra-renal manifestation of ADPKD

scientific article published on 5 February 2008

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

scientific article published on 20 August 2015

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

scientific article published on 6 July 2007

Mutations in SLC26A1 Cause Nephrolithiasis

scientific article published on 18 May 2016

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

scientific article

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition

scientific article published on 06 January 2020

Nephrocalcinosis: molecular insights into calcium precipitation within the kidney.

scientific article published on June 2004

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

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

Nephronophthisis

scientific article (2009)

Nephronophthisis: a genetically diverse ciliopathy

scientific article published on 15 May 2011

Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report

scientific article published on 09 July 2019

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families

scientific article published on 08 July 2020

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1

scientific article published on 10 August 2009

Pantoprazole-induced acute interstitial nephritis.

scientific article published in July 2004

Parapelvic cysts leading to a diagnosis of Fabry disease

scientific article published on 01 November 2008

Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan

scientific article published on 27 July 2017

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

scientific article published on 19 January 2016

Primary hyperparathyroidism: just how 'primary' is it really?

scientific article

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

scientific article

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

scientific article

Renal Stone Disease ⬇️

scientific article published on November 11, 2010

SGLT2 inhibitors - a potential treatment for Alport syndrome

scientific article published on 01 February 2020

Secondary hyperparathyroidism in a poorly compliant patient

scientific article published on 20 July 2009

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family

scientific article published on 18 August 2011

Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole.

scientific article published on 25 May 2015

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

scientific article published on 16 November 2018

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

scientific article published on 25 July 2019

Tc99m WCC identifies occult abscess in a polycystic kidney

scientific article published on 01 January 2009

The Molecular Genetics of Gordon Syndrome

scientific article published on 29 November 2019

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

The challenges of diagnosis and management of Gitelman syndrome

scientific article published on 06 October 2019

The genetics of nephrolithiasis

article

The voltage‐dependent Cl− channel ClC‐5 and plasma membrane Cl− conductances of mouse renal collecting duct cells (mIMCD‐3) ⬇️

scientific article published on November 1, 2001

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

scientific article published on 31 January 2012

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

scientific article published in December 2021

Urinary stone formation: Dent's disease moves understanding forward

scientific article published in January 2002

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

scientific article

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

scientific article published on 15 October 2020

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

scientific article published on 16 June 2020

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes

article

Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

scientific article

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

Yersinia pseudotuberculosis aortitis in a patient with diverticulosis and polycystic kidney disease.

scientific article

List of works by John A. Sayer

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

A meckelin-filamin A interaction mediates ciliogenesis

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

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

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

ANKH and renal stone formation in ankylosing spondylitis

ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.

Acute renal failure from contrast medium: beware patients taking metformin...

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells.

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives

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

Chondrocalcinosis and Gitelman syndrome.

Clinical and functional characterization of URAT1 variants

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

Diagnosing Fabry disease--delays and difficulties within discordant siblings.

Digital ischaemia in a renal transplant patient.

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders

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

Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells

Electrolyte Disturbances in SARS-CoV-2 Infection

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

Emphysematous pyelonephritis leading to end-stage renal failure

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

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

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

Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells.

Extracellular calcium‐sensing receptor dysfunction is associated with two new phenotypes ⬇️

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

From disease modelling to personalised therapy in patients with CEP290 mutations

Functional modelling of a novel mutation in BBS5.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

Germline selection shapes human mitochondrial DNA diversity

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

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

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

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

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome

Is there anything good in uric acid?

Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?

Kidney traits on repeat—the role of MUC1 VNTR

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

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

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

Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Multiple thyroid cysts as an extra-renal manifestation of ADPKD

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

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

Mutations in SLC26A1 Cause Nephrolithiasis

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition

Nephrocalcinosis: molecular insights into calcium precipitation within the kidney.

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

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Nephronophthisis

Nephronophthisis: a genetically diverse ciliopathy

Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1

Pantoprazole-induced acute interstitial nephritis.

Parapelvic cysts leading to a diagnosis of Fabry disease

Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Primary hyperparathyroidism: just how 'primary' is it really?

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

Renal Stone Disease ⬇️

SGLT2 inhibitors - a potential treatment for Alport syndrome