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Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent monogenic human diseases. It is mostly caused by pathogenic variants in PKD1 or PKD2 genes that encode interacting transmembrane proteins polycystin-1 (PC1) and ...
Elizabeth J. Wilk+10 more
doaj +1 more source
Multilocular Cystic Renal Cell Carcinoma: An Unusual Gross Appearance [PDF]
Multilocular Cystic Renal Cell Carcinoma (MCRCC) represents a rare variant of clear cell (conventional) renal cell carcinomas. Attributable to its distinct characteristics in prognosis and its natural history, MCRCC was recognised as a separate subtype ...
Jagtap, SV+3 more
core +1 more source
Acquired cystic disease and renal cell carcinoma in hemodialysis patients: A case report on three patients [PDF]
Introduction. Renal cell carcinoma (RCC) is derived from renal tubular epithelial cells and represents approximately 3.8% of all malignancies in adults. The incidence of renal cell carcinoma has been growing steadily and ranging from 0.6 to 14.7
Mijušković Mirjana+11 more
doaj +1 more source
Objective The objective of this study was to evaluate and compare the risk of hepatotoxicity associated with the use of febuxostat and benzbromarone in patients with gout. Methods New users of febuxostat or benzbromarone with monitoring of liver function at least three times in a year after initiation of the study drugs were identified from an ...
Wenyan Sun+8 more
wiley +1 more source
A systems-biology approach to understanding the ciliopathy disorders. [PDF]
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +1 more source
Inhibition of asparagine synthetase effectively retards polycystic kidney disease progression
Polycystic kidney disease (PKD) is a genetic disorder characterized by bilateral cyst formation. We showed that PKD cells and kidneys display metabolic alterations, including the Warburg effect and glutaminolysis, sustained in vitro by the enzyme ...
Sara Clerici+16 more
doaj +1 more source
Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy
The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq+4 more
wiley +1 more source
Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C+4 more
core +1 more source
Acquired cystic kidney disease
A 34-year-old black sales manager was referred for evaluation of azotemia of undetermined duration. He claimed to be in good health except for "borderline" hypertension since age 25. He had no history of urinary tract signs or symptoms. A tumor of unspecified type had been removed from the left anterior chest wall 8 years previously; there had been no ...
openaire +3 more sources
Cystic diseases of the kidney range from indolent, incidentally diagnosed simple renal cysts to severe life-threatening renal insufficiency seen in neonates and infants with autosomal recessive polycystic kidney disease (ARPKD). Multicystic dysplastic kidney (MCDK) and autosomal dominant cystic disease (ADPKD) are examples of the most common cystic ...
Rodrigo L.P. Romao+3 more
openaire +2 more sources