ArticleJournal of the American Society of Nephrology : JASN2014
A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.
Article in Journal of the American Society of Nephrology : JASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 47 citations in OpenAlex.
- Advances in the Treatment of Autosomal Dominant Polycystic Kidney Disease and Novel Therapeutic Targets.Current issues in molecular biology · 2026Review
- Aortic Dilatation in Children and Young People With ADPKD.Kidney international reports · 2024Article
- Double Heterozygous Pathogenic Variants in theGenes · 2023Article
- Polycystic kidneys: interaction of notch and renin.Clinical science (London, England : 1979) · 2023Article
- Wall Tension and Tubular Resistance in Kidney Cystic Conditions.Biomedicines · 2023Review
- The extracellular matrix glycoprotein fibrillin-1 in health and disease.Frontiers in cell and developmental biology · 2023Review
- Multiomic identification of factors associated with progression to cystic kidney disease in mice with nephron Ift88 disruption.American journal of physiology. Renal physiology · 2022Article
- Emerging therapies for autosomal dominant polycystic kidney disease with a focus on cAMP signaling.Frontiers in molecular biosciences · 2022Review
- Congenital Heart Disease in Adults with Autosomal Dominant Polycystic Kidney Disease.American journal of nephrology · 2022Article
- Prevalence of Inferior Vena Cava Compression in ADPKD.Kidney international reports · 2021Article
- Overexpression of TGF-β1 induces renal fibrosis and accelerates the decline in kidney function in polycystic kidney disease.American journal of physiology. Renal physiology · 2020Article
- Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling.Cellular signalling · 2020Review
- Adipose tissue loss and lipodystrophy in xylosyltransferase II deficient mice.International journal of obesity (2005) · 2019Article
- Polycystic kidney disease.Nature reviews. Disease primers · 2018Review
- Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".American journal of human genetics · 2018Article
- Canonical Wnt inhibitors ameliorate cystogenesis in a mouse ortholog of human ADPKD.JCI insight · 2018Article
- Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.Cold Spring Harbor perspectives in biology · 2017Review
- B-type natriuretic peptide overexpression ameliorates hepatorenal fibrocystic disease in a rat model of polycystic kidney disease.Kidney international · 2017Article
- Rapamycin treatment dose-dependently improves the cystic kidney in a new ADPKD mouse model via the mTORC1 and cell-cycle-associated CDK1/cyclin axis.Journal of cellular and molecular medicine · 2017Article
- Fluid shear stress-induced TGF-β/ALK5 signaling in renal epithelial cells is modulated by MEK1/2.Cellular and molecular life sciences : CMLS · 2017Article
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15 authors at 5 institutions in 2 countries.
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Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of renal failure that is due to mutations in two genes, PKD1 and PKD2. Vascular complications, including aneurysms, are a well recognized feature of ADPKD, and a subgroup of families exhibits traits reminiscent of Marfan syndrome (MFS). MFS is caused by mutations in fibrillin-1 (FBN1), which encodes an extracellular matrix protein with homology to latent TGF-β binding proteins. It was recently demonstrated that fibrillin-1 deficiency is associated with upregulation of TGF-β signaling. We investigated the overlap between ADPKD and MFS by breeding mice with targeted mutations in Pkd1 and Fbn1. Double heterozygotes displayed an exacerbation of the typical Fbn1 heterozygous aortic phenotype. We show that the basis of this genetic interaction results from further upregulation of TGF-β signaling caused by Pkd1 haploinsufficiency. In addition, we demonstrate that loss of PKD1 alone is sufficient to induce a heightened responsiveness to TGF-β. Our data link the interaction of two important diseases to a fundamental signaling pathway.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.