John A. Sayer
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View article: Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman
Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman Open
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver. Disease-causing variants in PKHD1 lead to a disruption of the encoded protein fibrocystin/polyductin…
View article: Landscape of parental postzygotic mutations in >11,000 rare disease trios
Landscape of parental postzygotic mutations in >11,000 rare disease trios Open
Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the parent as well as being passed to offsprin…
View article: A Novel Founder PKHD1 Disease Causing Variant in Israeli Bedouins With Autosomal Recessive Polycystic Kidney Disease
A Novel Founder PKHD1 Disease Causing Variant in Israeli Bedouins With Autosomal Recessive Polycystic Kidney Disease Open
View article: Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies
Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies Open
Primary cilia are crucial cellular organelles with vital roles in signal transduction and cellular function. Disruptions in primary ciliary structure or function underlie a group of genetic disorders known as primary ciliopathies. These di…
View article: #3174 Monoallelic IFT172 variants as a genetic contributor to the ADPKD spectrum
#3174 Monoallelic IFT172 variants as a genetic contributor to the ADPKD spectrum Open
Background and Aims PKD1 and PKD2 are the two major genes in autosomal dominant polycystic kidney disease (ADPKD). Up to 15% of patients with ADPKD-like phenotype are genetically unresolved (GUR) or carry variants in minor cystogenes inclu…
View article: Prevalence and biochemical associations of pathogenic genetic variants in a targeted population of high-risk kidney stone formers
Prevalence and biochemical associations of pathogenic genetic variants in a targeted population of high-risk kidney stone formers Open
View article: PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development Open
Autosomal Dominant Polycystic Kidney Disease (ADPKD), caused by pathogenic variants in PKD1 and PKD2 , is the most common monogenic cause of kidney failure. Approximately 10% of ADPKD patients remain undiagnosed after coding-region focused…
View article: Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant
Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant Open
CYP24A1 is gene that encodes one of the cytochrome P450 superfamily enzymes involved in the breakdown of 1,25-dihydroxyvitamin D3. Genetic variants in CYP24A1 lead to a range of phenotypical and biochemical presentations, including idiopat…
View article: Urinary renal epithelial cells can be used for <i>NPHP1</i> phenotyping and a personalized therapeutic strategy
Urinary renal epithelial cells can be used for <i>NPHP1</i> phenotyping and a personalized therapeutic strategy Open
Nephronophthisis (NPHP) is a recessive tubulointerstitial nephropathy and a leading genetic cause of kidney failure in children and young adults. The most common genetic cause is a homozygous deletion of NPHP1, which encodes nephrocystin-1…
View article: Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death
Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death Open
The spectrum of disease associated with pathogenic mitochondrial DNA (mtDNA) variants is wide. Most often, heteroplasmic mitochondrial DNA disease is the result of an adenine to guanine transition at position 3243 of mtDNA (m.3243A > G) in…
View article: 10 tips on how to take a proper family history in CKD patient care
10 tips on how to take a proper family history in CKD patient care Open
Patients with chronic kidney disease often present with a family burden of disease. However, efficient collection and documentation of family history can be challenging in clinical practice. In this article, we provide 10 practical tips to…
View article: Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease
Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease Open
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to glycosphingolipid accumulation and progressive organ damage. Renal involvement is a major complication, yet diagnosis often requires…
View article: Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA
Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA Open
Chronic kidney disease of unexplained cause (CKDx) is a diagnosis of exclusion. With an estimated global prevalence of at least 16–20% among CKD patients, CKDx poses a significant challenge to the field. To date, there is no established co…
View article: Genotype–phenotype correlations and clinical outcomes of genetic <i>TRPC6</i> podocytopathies
Genotype–phenotype correlations and clinical outcomes of genetic <i>TRPC6</i> podocytopathies Open
Background and hypothesis Podocytopathy associated with likely pathogenic/pathogenic variants of Transient receptor potential cation channel subfamily C member 6 (TRPC6) (TRPC6-AP) has been recognized for about 20 years. As a result of its…
View article: SOX9-dependent fibrosis drives renal function in nephronophthisis
SOX9-dependent fibrosis drives renal function in nephronophthisis Open
Fibrosis is a key feature of a broad spectrum of cystic kidney diseases, especially autosomal recessive kidney disorders such as nephronophthisis (NPHP). However, its contribution to kidney function decline and the underlying molecular mec…
View article: Autophagy regulator ATG7 links lipid metabolism to cell-fate decisions in kidney tubule health and disease
Autophagy regulator ATG7 links lipid metabolism to cell-fate decisions in kidney tubule health and disease Open
Homeostasis in the kidney proximal tubule (PT) requires coordination between metabolism and differentiation, yet the mechanisms governing this balance remain elusive. Here, we integrate model organisms, multiomics profiling, and human gene…
View article: GLP-1 receptor agonists—another promising therapy for Alport syndrome?
GLP-1 receptor agonists—another promising therapy for Alport syndrome? Open
Alport syndrome (AS) is a progressive monogenic glomerular kidney disease characterised by kidney function decline, hearing loss, and ocular abnormalities, often leading to early-onset kidney failure (KF). While current therapies, such as …
View article: Rare disease gene association discovery in the 100,000 GenomesProject
Rare disease gene association discovery in the 100,000 GenomesProject Open
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet to be discovered disease–gene associations. To search for such associations, we developed a rare var…
View article: Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN
Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN Open
Background Primary hyperoxaluria (PH) is a rare disorder with significant morbidity and mortality if left untreated. Given the rarity, global inequities in diagnostics and treatment are expected. Recently introduced RNA interference therap…
View article: Genomic diversity: meeting the challenge of rare diseases
Genomic diversity: meeting the challenge of rare diseases Open
View article: WCN25-1253 SMALL MOLECULE DRUG TREATMENTS FOR INHERITED KIDNEY DISEASE: NEPHRONOPHTHISIS
WCN25-1253 SMALL MOLECULE DRUG TREATMENTS FOR INHERITED KIDNEY DISEASE: NEPHRONOPHTHISIS Open
View article: WCN25-2377 Deep phenotyping of a family with NPHP1 whole gene deletion using human urinary derived renal epithelial cells
WCN25-2377 Deep phenotyping of a family with NPHP1 whole gene deletion using human urinary derived renal epithelial cells Open
View article: Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group
Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group Open
A substantial number of patients with autosomal dominant polycystic kidney disease (ADPKD) undergo a nephrectomy, especially in workup for a kidney transplantation. Currently, there is no evidence-based algorithm to guide clinicians about …
View article: Dent disease: clinical practice recommendations
Dent disease: clinical practice recommendations Open
Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the third and fifth decad…
View article: Network-based framework for studying etiology and phenotype diversity in primary ciliopathies
Network-based framework for studying etiology and phenotype diversity in primary ciliopathies Open
Recent advances in sequencing technologies have increasingly enabled the identification of genetic causes for human monogenic diseases. However, systematic understanding remains limited due to the rarity, genetic heterogeneity, and complex…
View article: Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study Open
View article: ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases Open
Background: Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. ANKS6 plays an important role in early kidney development and encodes a protein that interacts with other proteins wi…
View article: SGLT2-Inhibition in Patients With Alport Syndrome
SGLT2-Inhibition in Patients With Alport Syndrome Open
View article: UMOD Genotype and Determinants of Urinary Uromodulin in African Populations
UMOD Genotype and Determinants of Urinary Uromodulin in African Populations Open
We evidenced ethnic differences in clinical and genetic determinants of uUMOD levels, in particular an interaction of ethnicity on the relationship between CKD-risk SNPs and uUMOD. These differences should be considered when analyzing the …
View article: Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study Open
Background MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insuffic…