Last Updated: 09/26/2026
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Found 25 publications
PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes.
Journal: The Journal of clinical investigation
Published: July 28, 2026
Emerging Therapies in Autosomal Dominant Polycystic Kidney Disease.
Journal: Kidney360
Published: December 12, 2025
KDOQI US Commentary on the KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: October 10, 2025
PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.
Journal: PLoS genetics
Published: August 13, 2025
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 23, 2025
Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: February 06, 2024
Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.
Journal: Seminars in nephrology
Published: November 23, 2023
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Journal: Kidney360
Published: October 25, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Journal: Gastroenterology
Published: August 22, 2023
Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.
Journal: Journal of the American Society of Nephrology : JASN
Published: May 08, 2023
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Journal: Frontiers in genetics
Published: August 16, 2022
Last Updated: 09/26/2026