Results 51 to 60 of about 3,912 (211)
Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
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Clinical aspects of autosomal recessive polycystic kidney disease [PDF]
, 2010 INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR) é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts) foram
DIAS, Natasha Favoretto +3 more
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Dominant and Recessive Polycystic Kidney Disease: A Novel Molecular Diagnostics Approach Based on Next-Generation Sequencing [PDF]
, 2017 Polycystic Kidney Disease (PKD) is the most common genetic cause of kidney failure in children and adults and can be inherited as an autosomal dominant trait (ADPKD) or an autosomal recessive trait (ARPKD). ADPKD is the most common form, characterized by
Minardi, Raffaella <1987>
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PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells [PDF]
Proceedings of the National Academy of Sciences, 2004 Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human ...
Ming-Zhi Zhang +25 more
openalex +3 more sources
TNF-α blockade is ineffective in animal models of established polycystic kidney disease [PDF]
, 2013 BACKGROUND: Given the large medical burden of polycystic kidney disease (PKD) and recent clinical trial failures, there is a need for novel, safe and effective treatments for the disorder.
Jeffrey Roix, Saurabh Saha
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A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. [PDF]
, 2017 Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability.
Banda, Yambazi +10 more
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Stem Cell Research, 2022 Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the ...
Mingyang Sun +5 more
doaj +1 more source
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles
BMC Nephrology, 2020 Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari +3 more
doaj +1 more source
Frontiers in Genetics, 2021 Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy.
Yanjing Wu +6 more
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