Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, whereas Wnt Signaling Remains Unaffected [PDF]
, 2004 Polycystin-1, the polycystic kidney disease 1 gene product, has been implicated in several signaling complexes that are known to regulate essential cellular functions. We investigated the role of polycystin-1 in Wnt signaling and activator protein-1 (
Arnould +37 more
core +3 more sources
Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]
, 2006 PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E. +4 more
core +2 more sources
Effect of ovariectomy on the progression of chronic kidney disease-mineral bone disorder (CKD-MBD) in female Cy/+ rats [PDF]
, 2019 Male Cy/+ rats have shown a relatively consistent pattern of progressive kidney disease development that displays multiple key features of late stage chronic kidney disease-mineral bone disorder (CKD-MBD), specifically the development of cortical bone ...
Allen, Matthew R. +7 more
core +1 more source
Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. [PDF]
PLoS ONE, 2015 Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children.
K J Kelly +6 more
doaj +1 more source
Combined liver-kidney transplant in polycystic diseases: a case report [PDF]
Einstein (São Paulo), 2023 Polycystic liver disease, a hereditary pathology, usually manifests as autosomal dominant polycystic kidney disease. The many cysts in the liver cause massive hepatomegaly, majorly affecting the patient’s quality of life. In cases of refractory symptoms,
Olival Cirilo Lucena da Fonseca Neto +7 more
doaj +1 more source
Molecular Mechanisms of Isolated Polycystic Liver Diseases
Frontiers in Genetics, 2022 Polycystic liver disease (PLD) is a rare autosomal dominant disorder including two genetically and clinically distinct forms: autosomal dominant polycystic kidney disease (ADPKD) and isolated polycystic liver disease (PCLD).
Ziqi Yu +5 more
doaj +1 more source
Surgical Management of Autosomal Dominant Polycystic Kidney Disease: Principles and Current Practice
Journal of Nepal Medical Association, 2023 Autosomal dominant polycystic kidney disease is the third most common cause of renal failure with no definitive treatment available that can directly target the development and growth of the cysts.
Badri Man Shrestha
doaj +1 more source
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]
, 2019 Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal +5 more
core +3 more sources
Inverting the patient involvement paradigm: defining patient led research
Research Involvement and Engagement, 2018 Plain English Summary Patients usually understand their disease and lifestyle needs better than many medical professionals. They also have important ideas about what research would be most beneficial to their lives, especially on how to manage symptoms ...
Laura B. Mader +4 more
doaj +1 more source
Management of Pain in Autosomal Dominant Polycystic Kidney Disease and Anatomy of Renal Innervation [PDF]
, 2015 Purpose Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life.
Bacallao, Robert L. +4 more
core +1 more source