Associated Papers
Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.
Sharova M et al.
Prenatal Diagnosis, 2026
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
Targeting Ogt in ADPKD mitigates metabolic reprogramming and renal cystogenesis, extending survival.
Kavanaugh MA et al.
Biorxiv : the Preprint Server for Biology, 2025
In vivo base editing rescues ADPKD in a humanized mouse model.
Cheng AS et al.
Nature Communications, 2025
Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances.
Borghol AH et al.
Renal Failure, 2025
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
Frank MSB et al.
Human Genomics, 2025
Inhibition of Hedgehog signaling does not mitigate polycystic kidney disease severity in a Pkd1 mutant mouse model.
Gombart SK et al.
Journal of Cell Science, 2025
Renal tissue-resident macrophages promote cystogenesis in early polycystic kidney disease.
Karl R et al.
Journal of Cell Science, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Pirfenidone treatment attenuates fibrosis in autosomal dominant polycystic kidney disease.
Remadevi V et al.
Biorxiv : the Preprint Server for Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Physiologic mechanisms underlying polycystic kidney disease.
Boletta A et al.
Physiological Reviews, 2025
AAV1-CFTR preferentially transduces cysts and reduces cyst size in a mouse model of ADPKD.
Ciobanu C et al.
American Journal of Physiology. Cell Physiology, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
Elhassan EAE et al.
Journal of Nephrology, 2025
Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse model.
Jafree DJ et al.
Disease Models & Mechanisms, 2025
Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within the All of Us Research Program Cohort.
Felker SA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A conditional smoothened (smo) allele on an inbred C57BL/6J genetic background has a hypomorphic smo mutant phenotype.
Houghtaling S et al.
Developmental Biology, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Multiomics profiling of mouse polycystic kidney disease progression at a single-cell resolution.
Muto Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Circadian clock disruption and growth of kidney cysts in autosomal dominant polycystic kidney disease.
Jamadar A et al.
Biorxiv : the Preprint Server for Biology, 2024
Polycystin-1 loss of function increases susceptibility to atrial fibrillation through impaired DNA damage response.
Hendrickson T et al.
Biorxiv : the Preprint Server for Biology, 2024
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 2024
Myocardin-Related Transcription Factor Mediates Epithelial Fibrogenesis in Polycystic Kidney Disease.
Lichner Z et al.
Cells, 2024
Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.
Chen EWC et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
Multi-omics profiling of mouse polycystic kidney disease progression at a single cell resolution.
Muto Y et al.
Biorxiv : the Preprint Server for Biology, 2024
Pkd2 Deficiency in Embryonic Aqp2 + Progenitor Cells Is Sufficient to Cause Severe Polycystic Kidney Disease.
Tsilosani A et al.
Journal of the American Society of Nephrology : Jasn, 2024
Inhibiting centrosome clustering reduces cystogenesis and improves kidney function in autosomal dominant polycystic kidney disease.
Cheng T et al.
Jci Insight, 2024
Ablation of Long Noncoding RNA Hoxb3os Exacerbates Cystogenesis in Mouse Polycystic Kidney Disease.
Weisser I et al.
Journal of the American Society of Nephrology : Jasn, 2024
The Pathophysiology of Left Ventricular Hypertrophy, beyond Hypertension, in Autosomal Dominant Polycystic Kidney Disease.
Oto OA et al.
Nephron, 2024
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.
Orisio S et al.
Nephron, 2024
CFTR and PC2, partners in the primary cilia in autosomal dominant polycystic kidney disease.
Yanda MK et al.
American Journal of Physiology. Cell Physiology, 2023
Experimental Models of Polycystic Kidney Disease: Applications and Therapeutic Testing.
Sieben CJ et al.
Kidney360, 2023
Immune checkpoint activity regulates polycystic kidney disease progression.
Kleczko EK et al.
Jci Insight, 2023
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Ambrosini E et al.
Genes, 2023
The tryptophan-metabolizing enzyme indoleamine 2,3-dioxygenase 1 regulates polycystic kidney disease progression.
Nguyen DT et al.
Jci Insight, 2023
The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease.
Durkie M et al.
Human Mutation, 2023
Kidney Cyst Lining Epithelial Cells Are Resistant to Low-Dose Cisplatin-Induced DNA Damage in a Preclinical Model of Autosomal Dominant Polycystic Kidney Disease.
Saravanabavan S et al.
International Journal of Molecular Sciences, 2022
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Hosseinpour M et al.
Archives of Iranian Medicine, 2022
Elamipretide treatment during pregnancy ameliorates the progression of polycystic kidney disease in maternal and neonatal mice with PKD1 mutations.
Daneshgar N et al.
Kidney International, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Metabolic reprogramming in a slowly developing orthologous model of polycystic kidney disease.
Hopp K et al.
American Journal of Physiology. Renal Physiology, 2022
Metformin improves relevant disease parameters in an autosomal dominant polycystic kidney disease mouse model.
Pastor-Soler NM et al.
American Journal of Physiology. Renal Physiology, 2022
The Mitochondrial Ca2+ import complex is altered in ADPKD.
Yanda MK et al.
Cell Calcium, 2022