ArticleThe Journal of biological chemistry2011
Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.
Article in The Journal of biological chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 38 citations in OpenAlex.
- An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.Antioxidants (Basel, Switzerland) · 2025Review
- Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Review
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Article
- A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- Compromised Cardiopulmonary Function in Fibulin-5 Deficient Mice.Journal of biomechanical engineering · 2022Article
- Copper-Binding Domain Variation in a Novel Murine Lysyl Oxidase Model Produces Structurally Inferior Aortic Elastic Fibers Whose Failure Is Modified by Age, Sex, and Blood Pressure.International journal of molecular sciences · 2022Article
- Airflow Obstruction in Adults with Williams Syndrome and Mice with Elastin Insufficiency.Diagnostics (Basel, Switzerland) · 2022Article
- Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KFrontiers in cardiovascular medicine · 2022Article
- Excessive adventitial stress drives inflammation-mediated fibrosis in hypertensive aortic remodelling in mice.Journal of the Royal Society, Interface · 2021Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview.Molecules (Basel, Switzerland) · 2021Review
- Inhibition of NOX1 Mitigates Blood Pressure Increases in Elastin Insufficiency.Function (Oxford, England) · 2021Article
- Loss of Angiotensin II Type 2 Receptor Improves Blood Pressure in Elastin Insufficiency.Frontiers in cardiovascular medicine · 2021Article
- Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.Antioxidants (Basel, Switzerland) · 2020Review
- Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.Human molecular genetics · 2020Article
- Comparative gene array analyses of severe elastic fiber defects in late embryonic and newborn mouse aorta.Physiological genomics · 2018Article
- Genetics of the extracellular matrix in aortic aneurysmal diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Elastin-driven genetic diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Elastin, arterial mechanics, and cardiovascular disease.American journal of physiology. Heart and circulatory physiology · 2018Review
- Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness.American journal of physiology. Heart and circulatory physiology · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Elastin haploinsufficiency causes the cardiovascular complications associated with Williams-Beuren syndrome and isolated supravalvular aortic stenosis. Significant variability exists in the vascular pathology in these individuals. Using the Eln(+/-) mouse, we sought to identify the source of this variability. Following outcrossing of C57Bl/6J Eln(+/-), two backgrounds were identified whose cardiovascular parameters deviated significantly from the parental strain. F1 progeny of the C57Bl/6J; Eln(+/-)x129X1/SvJ were more hypertensive and their arteries less compliant. In contrast, Eln(+/-) animals crossed to DBA/2J were protected from the pathologic changes associated with elastin insufficiency. Among the crosses, aortic elastin and collagen content did not correlate with quantitative vasculopathy traits. Quantitative trait locus analysis performed on F2 C57; Eln(+/-)x129 intercrosses identified highly significant peaks on chromosome 1 (LOD 9.7) for systolic blood pressure and on chromosome 9 (LOD 8.7) for aortic diameter. Additional peaks were identified that affect only Eln(+/-), including a region upstream of Eln on chromosome 5 (LOD 4.5). Bioinformatic analysis of the quantitative trait locus peaks revealed several interesting candidates, including Ren1, Ncf1, and Nos1; genes whose functions are unrelated to elastic fiber assembly, but whose effects may synergize with elastin insufficiency to predispose to hypertension and stiffer blood vessels. Real time RT-PCR studies show background-specific increased expression of Ncf1 (a subunit of the NOX2 NAPDH oxidase) that parallel the presence of increased oxidative stress in Eln(+/-) aortas. This finding raises the possibility that polymorphisms in genes affecting the generation of reactive oxygen species alter cardiovascular function in individuals with elastin haploinsufficiency through extrinsic noncomplementation.
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Registered trials
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