Associated Papers
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.
Ibel A et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.
Ibel A et al.
Biorxiv : the Preprint Server for Biology, 2025
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 2024
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Ambrosini E et al.
Genes, 2023
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
XBP1 Activation Reduces Severity of Polycystic Kidney Disease due to a Nontruncating Polycystin-1 Mutation in Mice.
Krappitz M et al.
Journal of the American Society of Nephrology : Jasn, 2023
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Cornec-Le Gall E et al.
Journal of the American Society of Nephrology : Jasn, 2018
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM et al.
Kidney International, 2014
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
Chang MY et al.
Journal of Human Genetics, 2013
The mutation, a key determinant of phenotype in ADPKD.
Harris PC et al.
Journal of the American Society of Nephrology : Jasn, 2013
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
Hopp K et al.
The Journal of Clinical Investigation, 2012
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
Vujic M et al.
Journal of the American Society of Nephrology : Jasn, 2010
Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.
Pandita S et al.
Indian Journal of Nephrology, 0