Search Results - "Peters, Dorien JM"
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Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling
Published in eLife (26-09-2016)“…-fusion renal cell carcinomas ( -fusion ) are caused by chromosomal translocations that lead to overexpression of the and genes (Kauffman et al., 2014). The…”
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Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice
Published in BMC biotechnology (25-02-2008)“…Inducible conditional knockout animals are widely used to get insight in the function of genes and the pathogenesis of human diseases. These models frequently…”
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Autosomal dominant polycystic kidney disease: modification of disease progression
Published in The Lancet (British edition) (27-10-2001)“…Autosomal dominant polycystic kidney disease is a common inherited disorder, which is characterised by the formation of fluid-filled cysts in both kidneys that…”
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The expression of somatostatin receptor 2 decreases during cyst growth in mice with polycystic kidney disease
Published in Experimental biology and medicine (Maywood, N.J.) (01-09-2018)“…Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive renal cyst formation and expansion. Several clinical trials show that…”
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Altered Hippo signalling in polycystic kidney disease
Published in The Journal of pathology (01-05-2011)“…Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive deterioration of renal function and formation of cysts, and is an…”
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Four‐jointed knock‐out delays renal failure in an ADPKD model with kidney injury
Published in The Journal of pathology (01-09-2019)“…Autosomal Dominant Polycystic Kidney Disease is characterised by the development of fluid‐filled cysts in the kidneys which lead to end‐stage renal disease…”
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Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)
Published in European journal of human genetics : EJHG (01-12-1999)“…Autosomal Dominant Polycystic Kidney Disease (ADPKD), a common inherited disease leading to progressive renal failure, can be caused by a mutation in either…”
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Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation
Published in Human molecular genetics (15-05-2013)“…Mutations in PKD1 (85%) or PKD2 (15%) account for almost all cases of autosomal dominant polycystic kidney disease (ADPKD). The ADPKD proteins, termed as…”
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Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice
Published in Human molecular genetics (15-12-2007)“…Autosomal dominant polycystic kidney disease, caused by mutations in the PKD1 gene, is characterized by progressive deterioration of kidney function due to the…”
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Elevated TGFβ-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease
Published in The Journal of pathology (01-09-2010)“…Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited renal disease characterized by many fluid‐filled cysts and interstitial fibrosis in…”
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LRP5 variants may contribute to ADPKD
Published in European journal of human genetics : EJHG (01-02-2016)“…Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset…”
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Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways
Published in Human molecular genetics (15-07-2009)“…Autosomal dominant polycystic kidney disease (ADPKD) is characterized by large fluid-filled cysts and progressive deterioration of renal function necessitating…”
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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
Published in American journal of medical genetics. Part A (01-10-2016)“…Mutations in CREBBP cause Rubinstein–Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11…”
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P2Y2R is a direct target of HIF-1α and mediates secretion-dependent cyst growth of renal cyst-forming epithelial cells
Published in Purinergic signalling (01-12-2016)“…Polycystic kidney diseases are characterized by numerous renal cysts that continuously enlarge resulting in compression of intact nephrons and tissue hypoxia…”
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Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease
Published in Human molecular genetics (15-12-2004)“…Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of renal failure and is characterized by the formation of many fluid-filled cysts in the…”
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Pericentrin Forms a Complex with Intraflagellar Transport Proteins and Polycystin-2 and Is Required for Primary Cilia Assembly
Published in The Journal of cell biology (30-08-2004)“…Primary cilia are nonmotile microtubule structures that assemble from basal bodies by a process called intraflagellar transport (IFT) and are associated with…”
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Urine Fetuin-A is a biomarker of autosomal dominant polycystic kidney disease progression
Published in Journal of translational medicine (30-03-2015)“…Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by numerous fluid-filled cysts that frequently result in end-stage…”
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Pkd1-inactivation in vascular smooth muscle cells and adaptation to hypertension
Published in Laboratory investigation (01-01-2011)“…Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem disorder characterized by renal, hepatic and pancreatic cyst formation and cardiovascular…”
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Transgenic mice expressing tamoxifen-inducible Cre for somatic gene modification in renal epithelial cells
Published in Genesis (New York, N.Y. : 2000) (01-05-2006)“…Gene inactivation often leads to an embryonic‐lethal phenotype. In focal diseases like renal cell carcinomas and polycystic kidney disease, somatic gene…”
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