ArticleThe Journal of biological chemistry2012
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
Article in The Journal of biological chemistry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Tumor-associated collagen signature in relation to metastasis in lung adenocarcinoma.Journal of thoracic disease · 2026Article
- Sphingosine kinase 1 is integral for elastin deficiency-induced arterial hypermuscularization.Nature cardiovascular research · 2026Article
- Fascicular Elastin Impacts Tendon-Specific Ramp-to-Failure and Fatigue Mechanics.Journal of biomechanical engineering · 2025Article
- Presenilin-1 in smooth muscle cells facilitates hypermuscularization in elastin aortopathy.iScience · 2024Article
- JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency.The Journal of clinical investigation · 2022Article
- Zebrafish as a Model to Study Vascular Elastic Fibers and Associated Pathologies.International journal of molecular sciences · 2022Review
- Influence of shape-memory stent grafts on local aortic compliance.Biomechanics and modeling in mechanobiology · 2021Article
- Elastin in lung development and disease pathogenesis.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
- Mapping Extracellular Matrix Proteins in Formalin-Fixed, Paraffin-Embedded Tissues by MALDI Imaging Mass Spectrometry.Journal of proteome research · 2018Article
- Targeted Modulation of Tropoelastin Structure and Assembly.ACS biomaterials science & engineering · 2017Article
- Functionally Distinct Tendons From Elastin Haploinsufficient Mice Exhibit Mild Stiffening and Tendon-Specific Structural Alteration.Journal of biomechanical engineering · 2017Article
- Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.Science advances · 2017Article
- Subtle balance of tropoelastin molecular shape and flexibility regulates dynamics and hierarchical assembly.Science advances · 2016Article
- Skin findings in Williams syndrome.American journal of medical genetics. Part A · 2014Article
- Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.Matrix biology : journal of the International Society for Matrix Biology · 2014Review
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin. Because the elastin gene has undergone significant changes in the primate lineage, modeling elastin diseases in non-human animals can be problematic. To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome. When expressed as a transgene in mice, mutant elastin was incorporated into elastic fibers in the skin and lung with adverse effects on tissue function. In contrast, only low levels of mutant protein incorporated into aortic elastin, which explains why the vasculature is relatively unaffected in this disease. RNA stability studies found that alternative exon splicing acts as a modifier of disease severity by influencing the spectrum of mutant transcripts that survive nonsense-mediated decay. Our results confirm the critical role of the C-terminal region of tropoelastin in elastic fiber assembly and suggest tissue-specific differences in the elastin assembly pathway.
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Registered trials
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.