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 …
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 …
“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
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 …
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 …
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
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 …
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 …
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
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 …
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …
[HTML][HTML] Animal models of biliary injury and altered bile acid metabolism
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 …
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 …
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
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 …
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …