Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease

HS Kang, JY Beak, YS Kim, R Herbert… - Molecular and cellular …, 2009 - Taylor & Francis
In this study, we describe the generation and partial characterization of Krüppel-like zinc
finger protein Glis3 mutant (Glis3zf/zf) mice. These mice display abnormalities very similar to …

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin

JL Bakeberg, R Tammachote, JR Woollard… - Journal of the …, 2011 - journals.lww.com
Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive
polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the …

Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases

LM Guay-Woodford - Journal of pediatric genetics, 2014 - thieme-connect.com
Autosomal recessive polycystic kidney disease (ARPKD) is a severe, typically early onset
form of renal cystic disease. The care of ARPKD patients has traditionally been the purview …

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1

AR Gallagher, EL Esquivel, TS Briere, X Tian… - The American journal of …, 2008 - Elsevier
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that
involves the kidneys and the biliary tract. Mutations in the PKHD1 gene are responsible for …

Cystic kidney disease: a primer

MT Cramer, LM Guay-Woodford - Advances in Chronic Kidney Disease, 2015 - Elsevier
Renal cystic diseases encompass a broad group of disorders with variable phenotypic
expression. Cystic disorders can present during infancy, childhood, or adulthood. Often, but …

[HTML][HTML] A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism

P Outeda, L Menezes, EA Hartung, S Bridges, F Zhou… - Kidney international, 2017 - Elsevier
Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the
kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes …

Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease

JK Phillips, D Hopwood, RA Loxley, K Ghatora… - Kidney and Blood …, 2007 - karger.com
Abstract Background/Methods: We have examined the hypothesis that cyst formation is key
in the pathogenesis of cardiovascular disease in a Lewis polycystic kidney (LPK) model of …

[HTML][HTML] Epidermal growth factor-mediated proliferation and sodium transport in normal and PKD epithelial cells

NN Zheleznova, PD Wilson, A Staruschenko - Biochimica et Biophysica …, 2011 - Elsevier
Members of the epidermal growth factor (EGF) family bind to ErbB (EGFR) family receptors
which play an important role in the regulation of various fundamental cell processes …

Mouse models of polycystic kidney disease

PD Wilson - Current topics in developmental biology, 2008 - Elsevier
Polycystic kidney disease (PKD) is a diverse group of human monogenic lethal conditions
inherited as autosomal dominant (AD) or recessive (AR) traits. Recent development of …

Early clinical management of autosomal recessive polycystic kidney disease

MC Liebau - Pediatric Nephrology, 2021 - Springer
Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant
disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the …