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
Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.
Zhu Y et al.
Stem Cell Reviews and Reports, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Establishment and Characterization of MUi027-A: A Novel Patient-Derived Cell Line of Polycystic Kidney Disease with PKD1 Mutation.
Linn AK et al.
Journal of Personalized Medicine, 2022
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
Zhang Z et al.
Journal of the American Society of Nephrology : Jasn, 2021
Generation of human induced pluripotent stem cell line (MUi026-A) from a patient with autosomal dominant polycystic kidney disease carrying PKD1 point mutation.
Maneepitasut W et al.
Stem Cell Research, 2021
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2012
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
Phakdeekitcharoen B et al.
Journal of the American Society of Nephrology : Jasn, 2001
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
Phakdeekitcharoen B et al.
Kidney International, 2000
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