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 …
disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the …
Polycystic kidney diseases: from molecular discoveries to targeted therapeutic strategies
O Ibraghimov-Beskrovnaya, N Bukanov - Cellular and Molecular Life …, 2008 - Springer
Polycystic kidney diseases (PKDs) represent a large group of progressive renal disorders
characterized by the development of renal cysts leading to end-stage renal disease …
characterized by the development of renal cysts leading to end-stage renal disease …
Advancements in therapeutic development: Kidney organoids and organs on a chip
N Tabibzadeh, R Morizane - Kidney International, 2024 - Elsevier
The use of animal models in therapeutic development has long been the standard practice.
However, ethical concerns and the inherent species differences have prompted a …
However, ethical concerns and the inherent species differences have prompted a …
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
F Zaucke, JM Boehnlein, S Steffens… - Human molecular …, 2010 - academic.oup.com
Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-
interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial …
interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial …
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease
N Harafuji, C Yang, M Wu, G Thiruvengadam… - Frontiers in Cell and …, 2023 - frontiersin.org
Autosomal recessive polycystic kidney disease (ARPKD; MIM# 263200) is a severe,
hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and …
hereditary, hepato-renal fibrocystic disorder that leads to early childhood morbidity and …
[HTML][HTML] Apoptosis in polycystic kidney disease
B Goilav - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2011 - Elsevier
Apoptosis is the process of programmed cell death. It is a ubiquitous, controlled process
consuming cellular energy and designed to avoid cytokine release despite activation of local …
consuming cellular energy and designed to avoid cytokine release despite activation of local …
Inhibition of Pkhd1 Impairs Tubulomorphogenesis of Cultured IMCD Cells
W Mai, D Chen, T Ding, I Kim, S Park… - Molecular biology of …, 2005 - Am Soc Cell Biol
Fibrocystin/polyductin (FPC), the gene product of PKHD1, is responsible for autosomal
recessive polycystic kidney disease (ARPKD). This disease is characterized by …
recessive polycystic kidney disease (ARPKD). This disease is characterized by …
Virtual-tissue computer simulations define the roles of cell adhesion and proliferation in the onset of kidney cystic disease
JM Belmonte, SG Clendenon, GM Oliveira… - Molecular biology of …, 2016 - Am Soc Cell Biol
In autosomal dominant polycystic kidney disease (ADPKD), cysts accumulate and
progressively impair renal function. Mutations in PKD1 and PKD2 genes are causally linked …
progressively impair renal function. Mutations in PKD1 and PKD2 genes are causally linked …
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
C Bergmann, F Küpper, C Dornia, F Schneider… - Human …, 2005 - Wiley Online Library
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood
renal‐and liver‐related morbidity and mortality with variable disease expression. While most …
renal‐and liver‐related morbidity and mortality with variable disease expression. While most …
Cystin localizes to primary cilia via membrane microdomains and a targeting motif
B Tao, S Bu, Z Yang, B Siroky, JC Kappes… - Journal of the …, 2009 - journals.lww.com
Primary cilia are dynamic, complex structures that contain> 500 proteins, including several
related to polycystic kidney disease. How these proteins target to cilia and assemble is …
related to polycystic kidney disease. How these proteins target to cilia and assemble is …