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 …

Osteocytes: master orchestrators of bone

MB Schaffler, WY Cheung, R Majeska… - Calcified tissue …, 2014 - Springer
Osteocytes comprise the overwhelming majority of cells in bone and are its only true
“permanent” resident cell population. In recent years, conceptual and technological …

[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 …

[HTML][HTML] Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease

B Porath, VG Gainullin, E Cornec-Le Gall… - The American Journal of …, 2016 - cell.com
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …

[HTML][HTML] The structure of the polycystic kidney disease channel PKD2 in lipid nanodiscs

PS Shen, X Yang, PG DeCaen, X Liu, D Bulkley… - Cell, 2016 - cell.com
Summary The Polycystic Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant
polycystic kidney disease (ADPKD), one of the most common human monogenic disorders …

[HTML][HTML] Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

PC Harris, VE Torres - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …

[HTML][HTML] Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

K Hopp, CJ Ward, CJ Hommerding… - The Journal of …, 2012 - Am Soc Clin Investig
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …

[HTML][HTML] Animal models of biliary injury and altered bile acid metabolism

V Mariotti, M Strazzabosco, L Fabris… - Biochimica et Biophysica …, 2018 - Elsevier
In the last 25 years, a number of animal models, mainly rodents, have been generated with
the goal to mimic cholestatic liver injuries and, thus, to provide in vivo tools to investigate the …

Liver and kidney disease in ciliopathies

M Gunay‐Aygun - American Journal of Medical Genetics Part C …, 2009 - Wiley Online Library
Hepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human
disorders. The discovery that proteins defective in the autosomal dominant and recessive …

[HTML][HTML] Genetic evaluation of living kidney donor candidates: a review and recommendations for best practices

CP Thomas, R Daloul, KL Lentine, R Gohh… - American Journal of …, 2023 - Elsevier
The growing accessibility and falling costs of genetic sequencing techniques has expanded
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …