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 …
Emerging mechanistic understanding of cilia function in cellular signalling
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 …
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
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 …
Renal plasticity revealed through reversal of polycystic kidney disease in mice
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 …
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 …
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 …
(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 …
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 …
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
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are
radiologically and pathologically identical to those seen in autosomal dominant polycystic …
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 …
and accounts for 7–10% of all patients on renal replacement therapy worldwide. Although …