Autosomal dominant polycystic kidney disease

E Cornec-Le Gall, A Alam, RD Perrone - The Lancet, 2019 - thelancet.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease and one of the most common causes of end-stage kidney disease. Multiple …

Emerging mechanistic understanding of cilia function in cellular signalling

KI Hilgendorf, BR Myers, JF Reiter - Nature Reviews Molecular Cell …, 2024 - nature.com
Primary cilia are solitary, immotile sensory organelles present on most cells in the body that
participate broadly in human health, physiology and disease. Cilia generate a unique …

[HTML][HTML] A scalable organoid model of human autosomal dominant polycystic kidney disease for disease mechanism and drug discovery

T Tran, CJ Song, T Nguyen, SY Cheng, JA McMahon… - Cell Stem Cell, 2022 - cell.com
Human pluripotent stem-cell-derived organoids are models for human development and
disease. We report a modified human kidney organoid system that generates thousands of …

Renal plasticity revealed through reversal of polycystic kidney disease in mice

K Dong, C Zhang, X Tian, D Coman, F Hyder, M Ma… - Nature …, 2021 - nature.com
Initiation of cyst formation in autosomal dominant polycystic kidney disease (ADPKD) occurs
when kidney tubule cells are rendered null for either PKD1 or PKD2 by somatic 'second …

Genetic complexity of autosomal dominant polycystic kidney and liver diseases

E Cornec-Le Gall, VE Torres… - Journal of the American …, 2018 - journals.lww.com
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis,
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …

Prevalence estimates of polycystic kidney and liver disease by population sequencing

MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …

Structure of the human PKD1-PKD2 complex

Q Su, F Hu, X Ge, J Lei, S Yu, T Wang, Q Zhou, C Mei… - Science, 2018 - science.org
INTRODUCTION Mutations in two genes, PKD1 and PKD2, are responsible for about 85 and
10% of all cases of autosomal dominant polycystic kidney disease (ADPKD), one of the most …

Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease

NM Cruz, X Song, SM Czerniecki, RE Gulieva… - Nature materials, 2017 - nature.com
Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects
in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts …

[HTML][HTML] Isolated polycystic liver disease genes define effectors of polycystin-1 function

W Besse, K Dong, J Choi, S Punia… - The Journal of …, 2017 - Am Soc Clin Investig
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are
radiologically and pathologically identical to those seen in autosomal dominant polycystic …

Autosomal dominant polycystic kidney disease: the changing face of clinical management

ACM Ong, O Devuyst, B Knebelmann, G Walz - The Lancet, 2015 - thelancet.com
Autosomal dominant polycystic kidney disease is the most common inherited kidney disease
and accounts for 7–10% of all patients on renal replacement therapy worldwide. Although …