Associated Papers
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
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Kidney organoid models of polycystic kidney disease: challenges and future directions.
Afrin H et al.
American Journal of Physiology. Renal Physiology, 2025
Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.
Rafiee M et al.
Journal of Applied Genetics, 2025
A novel rapalog shows improved safety vs. efficacy in a human organoid model of polycystic kidney disease.
Gulieva RE et al.
Stem Cell Reports, 2025
Genetics of cystogenesis in base-edited human organoids reveal therapeutic strategies for polycystic kidney disease.
Vishy CE et al.
Cell Stem Cell, 2024
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Wonkam A et al.
Communications Biology, 2022
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Identification of a mutation in the PKD2 gene in a family with age-related macular degeneration.
Narendran N et al.
American Journal of Medical Genetics. Part A, 2004
Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells.
Aguiari G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R et al.
Journal of the American Society of Nephrology : Jasn, 2003
Location of mutations within the PKD2 gene influences clinical outcome.
Hateboer N et al.
Kidney International, 2000
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