Nephronophthisis and medullary cystic kidney disease complex [PDF]
Vojnosanitetski Pregled, 2005 Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana +3 more
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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
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Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]
, 2016 The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco +11 more
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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
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PLoS Computational Biology, 2020 The Polycystic Kidney Disease (PKD) is characterized by progressive renal cyst development and other extrarenal manifestation including Polycystic Liver Disease (PLD).
Adrián Cordido +3 more
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Giornale di Clinica Nefrologia e Dialisi, 2023 Beyond total kidney and cyst volume, non-cystic tissue plays an important role in autosomal dominant polycystic kidney disease (ADPKD) progression.
Ariela Benigni
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Multiple Gastric Carcinomas Associated with Potter Type III Cystic Disease
Case Reports in Gastroenterology, 2011 We report a case of multiple gastric carcinomas associated with Potter type III cystic disease of the liver, mesenterium and kidney. A 65-year-old man with chronic renal failure due to polycystic kidneys and under hemodialysis treatment 3 times a week ...
Kenji Mimatsu +7 more
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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
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Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review [PDF]
, 2018 Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
Bhalla, Sanjeev +6 more
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Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management
International Journal of Nephrology and Renovascular Disease, 2023 Hanny Sawaf,1 Tariku T Gudura,1 Sylvester Dorobisz,1 Dianne Sandy,2 Xiangling Wang,1 Shane A Bobart2 1Department of Kidney Medicine, Cleveland Clinic, Cleveland, OH, USA; 2Department of Kidney Medicine, Cleveland Clinic Florida, Weston, FL ...
Sawaf H +5 more
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