Gene Symbol: Eln
Description: elastin
Alias: AI385707, AI480567, E030024M20Rik, elastin, tropoelastin
Species: mouse
Products:     Eln

Top Publications

  1. Lindahl P, Karlsson L, Hellstrom M, Gebre Medhin S, Willetts K, Heath J, et al. Alveogenesis failure in PDGF-A-deficient mice is coupled to lack of distal spreading of alveolar smooth muscle cell progenitors during lung development. Development. 1997;124:3943-53 pubmed
    ..We have mapped the expression of PDGF-A, PDGF receptor-alpha, tropoelastin, smooth muscle alpha-actin and desmin in developing lungs from wild type and PDGF-A(-/-) mice of pre- and ..
  2. Li D, Brooke B, Davis E, Mecham R, Sorensen L, Boak B, et al. Elastin is an essential determinant of arterial morphogenesis. Nature. 1998;393:276-80 pubmed
    b>Elastin, the main component of the extracellular matrix of arteries, was thought to have a purely structural role...
  3. Wendel D, Taylor D, Albertine K, Keating M, Li D. Impaired distal airway development in mice lacking elastin. Am J Respir Cell Mol Biol. 2000;23:320-6 pubmed
    b>Elastin is a major component of the mammalian lung, predominantly found in the alveoli. Destruction of alveolar elastic fibers is implicated in the pathogenic mechanism of emphysema in adults...
  4. Faury G, Pezet M, Knutsen R, Boyle W, Heximer S, McLean S, et al. Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency. J Clin Invest. 2003;112:1419-28 pubmed
    Supravalvular aortic stenosis is an autosomal-dominant disease of elastin (Eln) insufficiency caused by loss-of-function mutations or gene deletion...
  5. Wilkinson G, Schittny J, Reinhardt D, Klein R. Role for ephrinB2 in postnatal lung alveolar development and elastic matrix integrity. Dev Dyn. 2008;237:2220-34 pubmed publisher
    ..Postnatal day 1 mutant lungs show extracellular matrix alterations without differences in proportions of major distal cell populations. We conclude that lung alveolar formation relies on endothelial ephrinB2 function. ..
  6. Li A, Hardy R, Stoner S, Tuckermann J, Seibel M, Zhou H. Deletion of mesenchymal glucocorticoid receptor attenuates embryonic lung development and abdominal wall closure. PLoS ONE. 2013;8:e63578 pubmed publisher
    ..cells, although present in normal numbers in GR(Dermo1) animals, were characterized by significantly reduced elastin synthesis, whilst epithelial lining cells of the immature saccules were poorly differentiated...
  7. Shipley J, Mecham R, Maus E, Bonadio J, Rosenbloom J, McCarthy R, et al. Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development. Mol Cell Biol. 2000;20:4879-87 pubmed
    ..We studied the expression of LTBP-2 in the developing mouse and rat by in situ hybridization, using tropoelastin expression as a marker of tissues participating in elastic fiber formation...
  8. Mariani T, Reed J, Shapiro S. Expression profiling of the developing mouse lung: insights into the establishment of the extracellular matrix. Am J Respir Cell Mol Biol. 2002;26:541-8 pubmed
    ..These data should serve as a resource for the pulmonary research community and assist in deciphering the molecular mechanisms governing normal lung development as well as those involved in aberrant developmental pathology. ..
  9. DeMarsilis A, Walji T, Maedeker J, Stoka K, Kozel B, Mecham R, et al. Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism. J Mol Genet Med. 2014;8: pubmed
    ..syndrome is the consequence of a large contiguous-gene deletion on the seventh human chromosome that includes the elastin gene...

More Information


  1. Xie W, Li Z, Shi N, Guo X, Tang J, Ju W, et al. Smad2 and myocardin-related transcription factor B cooperatively regulate vascular smooth muscle differentiation from neural crest cells. Circ Res. 2013;113:e76-86 pubmed publisher
    ..Vascular smooth muscle cell (VSMC) differentiation from neural crest cells (NCCs) is critical for cardiovascular development, but the mechanisms remain largely unknown...
  2. Zhuo Y, Hoyle G, Shan B, Levy D, Lasky J. Over-expression of PDGF-C using a lung specific promoter results in abnormal lung development. Transgenic Res. 2006;15:543-55 pubmed
    ..These results suggest that PDGF-C is activated during lung development and is a potent growth factor for mesenchymal cells in vivo. ..
  3. Geng Y, Li L, Dong Y, Liu X, Li X, Ning W. Impaired elastin deposition in Fstl1-/- lung allograft under the renal capsule. PLoS ONE. 2013;8:e81368 pubmed publisher
    ..This study investigates the role of Fstl1 on elastin deposition in mesenchyme and subsequent secondary septation in the late gestation stage of terminal saccular ..
  4. Akhtar K, Broekelmann T, Miao M, Keeley F, Starcher B, Pierce R, et al. Oxidative and nitrosative modifications of tropoelastin prevent elastic fiber assembly in vitro. J Biol Chem. 2010;285:37396-404 pubmed publisher
    ..Elastin is the predominant component of elastic fibers. Tropoelastin (TE), the precursor of elastin, is synthesized mainly during late fetal and early postnatal stages...
  5. Iwata T, Chen L, Li C, Ovchinnikov D, Behringer R, Francomano C, et al. A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos. Hum Mol Genet. 2000;9:1603-13 pubmed
    ..This model was successfully crossed with a cartilage-specific CRE: transgenic strain, excluding the lung as the primary cause of lethality. ..
  6. Ahlfeld S, Wang J, Gao Y, Snider P, Conway S. Initial Suppression of Transforming Growth Factor-β Signaling and Loss of TGFBI Causes Early Alveolar Structural Defects Resulting in Bronchopulmonary Dysplasia. Am J Pathol. 2016;186:777-93 pubmed publisher
    ..Mutant septal tips were stunted, lacked elastin-positive tips, exhibited reduced proliferation, and contained abnormally persistent alveolar α-smooth muscle ..
  7. Andrae J, Ehrencrona H, Gallini R, Lal M, Ding H, Betsholtz C. Analysis of mice lacking the heparin-binding splice isoform of platelet-derived growth factor A. Mol Cell Biol. 2013;33:4030-40 pubmed publisher
  8. Lee U, Gustilo Ashby A, Daneshgari F, Kuang M, Vurbic D, Lin D, et al. Lower urogenital tract anatomical and functional phenotype in lysyl oxidase like-1 knockout mice resembles female pelvic floor dysfunction in humans. Am J Physiol Renal Physiol. 2008;295:F545-55 pubmed publisher
    ..In humans, elastin homeostasis has been implicated in the pathophysiology of FPFD...
  9. Ito Y, Toriuchi N, Yoshitaka T, Ueno Kudoh H, Sato T, Yokoyama S, et al. The Mohawk homeobox gene is a critical regulator of tendon differentiation. Proc Natl Acad Sci U S A. 2010;107:10538-42 pubmed publisher
    ..These data indicate that Mkx plays a critical role in tendon differentiation by regulating type I collagen production in tendon cells. ..
  10. Kagami Y, Furuichi T. Investigation of differentially expressed genes during the development of mouse cerebellum. Brain Res Gene Expr Patterns. 2001;1:39-59 pubmed
  11. Le V, Knutsen R, Mecham R, Wagenseil J. Decreased aortic diameter and compliance precedes blood pressure increases in postnatal development of elastin-insufficient mice. Am J Physiol Heart Circ Physiol. 2011;301:H221-9 pubmed publisher
    Increased arterial stiffness and blood pressure are characteristic of humans and adult mice with reduced elastin levels caused by aging or genetic disease...
  12. Chan A, Drakos S, Ruiz O, Smith A, Gibson C, Ling J, et al. Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice. J Clin Invest. 2011;121:1871-81 pubmed publisher
    ..These results suggest that CCM may be more effectively treated by directing therapies based on the underlying genetic mutation rather than treating the condition as a single clinical entity. ..
  13. Sasaki T, Göhring W, Miosge N, Abrams W, Rosenbloom J, Timpl R. Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins. FEBS Lett. 1999;460:280-4 pubmed
    Elastic fibers in vessel walls and other tissues consist of cross-linked tropoelastin in association with several microfibrillar proteins...
  14. Yang S, Nugent M, Panchenko M. EGF antagonizes TGF-beta-induced tropoelastin expression in lung fibroblasts via stabilization of Smad corepressor TGIF. Am J Physiol Lung Cell Mol Physiol. 2008;295:L143-51 pubmed publisher
    ..reported that neutrophil elastase (NE) downregulates transforming growth factor-beta (TGF-beta)-maintained tropoelastin mRNA levels in lung fibroblasts through transactivation of the epidermal growth factor (EGF) receptor (EGFR)/..
  15. Lau A, Duong T, Ito S, Yeung R. Matrix metalloproteinase 9 activity leads to elastin breakdown in an animal model of Kawasaki disease. Arthritis Rheum. 2008;58:854-63 pubmed publisher
    ..Localized inflammation at the coronary artery led to elastin breakdown and aneurysm formation. This occurred in the absence of smooth muscle cell apoptosis...
  16. Gacheru S, McGee C, Uriu Hare J, Kosonen T, Packman S, Tinker D, et al. Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys. 1993;301:325-9 pubmed
    ..in part by abnormal copper transport, cellular copper sequestration, and defective crosslinking of collagen and elastin. A decrease in the functional activity of lysyl oxidase, a cuproenzyme, is thought in part to be responsible for ..
  17. Shields K, Stolz D, Watkins S, Ahearn J. Complement proteins C3 and C4 bind to collagen and elastin in the vascular wall: a potential role in vascular stiffness and atherosclerosis. Clin Transl Sci. 2011;4:146-52 pubmed publisher
    ..The results demonstrate extensive binding of C3 and C4 to both collagen and elastin fibers within the adventitia in both ApoE(-/-) and C57Bl/6J control mice, as well as the presence of C3 and C4 ..
  18. Gill S, Pape M, Khokha R, Watson A, Leco K. A null mutation for tissue inhibitor of metalloproteinases-3 (Timp-3) impairs murine bronchiole branching morphogenesis. Dev Biol. 2003;261:313-23 pubmed
    ..We propose that the deletion of TIMP-3 disrupts the exquisite TIMP/MMP balance required for proper focal ECM proteolysis, which leads to correct bronchiole branching morphogenesis in the developing mouse lung. ..
  19. Zhang J, Liu Z, Zhang T, Lin Z, Li Z, Zhang A, et al. Loss of Lysyl Oxidase-like 3 Attenuates Embryonic Lung Development in Mice. Sci Rep. 2016;6:33856 pubmed publisher
    ..Increased transforming growth factor ?1 (TGF?1) expression might be involved in the up-regulation of LOXL4 in LOXL3-deficient lungs. We concluded that the loss of LOXL3 attenuates mouse embryonic lung development. ..
  20. Li W, Li Q, Qin L, Ali R, Qyang Y, Tassabehji M, et al. Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency. Arterioscler Thromb Vasc Biol. 2013;33:1028-35 pubmed publisher
    Patients with elastin deficiency attributable to gene mutation (supravalvular aortic stenosis) or chromosomal microdeletion (Williams syndrome) are characterized by obstructive arteriopathy resulting from excessive smooth muscle cell (..
  21. Lemaire R, Bayle J, Mecham R, Lafyatis R. Microfibril-associated MAGP-2 stimulates elastic fiber assembly. J Biol Chem. 2007;282:800-8 pubmed
    Elastic fibers are complex structures composed of a tropoelastin inner core and microfibril outer mantle guiding tropoelastin deposition. Microfibrillar proteins mainly include fibrillins and microfibril-associated glycoproteins (MAGPs)...
  22. Kwon G, Schroeder J, Amar M, Remaley A, Balaban R. Contribution of macromolecular structure to the retention of low-density lipoprotein at arterial branch points. Circulation. 2008;117:2919-27 pubmed publisher
    ..In this study, we characterized the submicron microstructure of arterial wall collagen and elastin to evaluate its potential role in regional LDL deposition...
  23. Ang S, Uebersohn A, Spencer C, Huang Y, Lee J, Ge K, et al. KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. Development. 2016;143:810-21 pubmed publisher
    ..Our findings indicate that KMT2D is essential for regulating cardiac gene expression during heart development primarily via H3K4 di-methylation. ..
  24. Beck K, Dang K, Boyd C. The tissue distribution of murine Abcc6 (Mrp6) during embryogenesis indicates that the presence of Abcc6 in elastic tissues is not required for elastic fiber assembly. J Mol Histol. 2005;36:167-70 pubmed
    ..and elastic fiber assembly, we have compared the steady-state levels and tissue distribution of Abcc6 and tropoelastin mRNAs during mouse embryogenesis...
  25. Poobalasingam T, Yates L, Walker S, Pereira M, Gross N, Ali A, et al. Heterozygous Vangl2Looptail mice reveal novel roles for the planar cell polarity pathway in adult lung homeostasis and repair. Dis Model Mech. 2017;10:409-423 pubmed publisher
    ..lungs exhibit many of the hallmarks of tissue damage, including an altered macrophage population, abnormal elastin deposition and elevated levels of the elastin-modifying enzyme, Mmp12, all of which are observed in ..
  26. Shi W, Heisterkamp N, Groffen J, Zhao J, Warburton D, Kaartinen V. TGF-beta3-null mutation does not abrogate fetal lung maturation in vivo by glucocorticoids. Am J Physiol. 1999;277:L1205-13 pubmed
    ..play a central role in fetal lung maturation, have been postulated to mediate their stimulatory effects on tropoelastin mRNA expression through TGF-beta3 in cultured lung fibroblasts...
  27. Gustafsson E, Fassler R. Insights into extracellular matrix functions from mutant mouse models. Exp Cell Res. 2000;261:52-68 pubmed
  28. Caetano A, Shiue Y, Lyons L, O Brien S, Laughlin T, Bowling A, et al. A comparative gene map of the horse (Equus caballus). Genome Res. 1999;9:1239-49 pubmed
    ..The equine type I markers developed in this study provide an important resource for the future development of the horse linkage and physical genome maps. ..
  29. Takase H, Itoh T, Ino S, Wang T, Koji T, Akira S, et al. FGF7 is a functional niche signal required for stimulation of adult liver progenitor cells that support liver regeneration. Genes Dev. 2013;27:169-81 pubmed publisher
    ..These findings provide new insights into the cellular and molecular basis for LPC regulation and identify FGF7 as a potential therapeutic target for liver diseases. ..
  30. Sun J, Chen H, Chen C, Whitsett J, Mishina Y, Bringas P, et al. Prenatal lung epithelial cell-specific abrogation of Alk3-bone morphogenetic protein signaling causes neonatal respiratory distress by disrupting distal airway formation. Am J Pathol. 2008;172:571-82 pubmed publisher
    ..Therefore, our data suggest that deficiency of appropriate BMP signaling in lung epithelial cells results in prenatal lung malformation, neonatal atelectasis, and respiratory failure. ..
  31. Papangeli I, Scambler P. Tbx1 genetically interacts with the transforming growth factor-?/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling. Circ Res. 2013;112:90-102 pubmed publisher
    ..Tbx1 acts upstream of Smad7 controlling vascular smooth muscle and extracellular matrix investment of the fourth arch artery. ..
  32. Londhe V, Maisonet T, Lopez B, Jeng J, Xiao J, Li C, et al. Conditional deletion of epithelial IKK? impairs alveolar formation through apoptosis and decreased VEGF expression during early mouse lung morphogenesis. Respir Res. 2011;12:134 pubmed publisher
    ..The purpose of this study was to test our hypothesis that targeted deletion of NF-?B signaling in lung epithelium would impair alveolar formation...
  33. Fazio M, Mattei M, Passage E, Chu M, Black D, Solomon E, et al. Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet. 1991;48:696-703 pubmed
    In this study we have utilized human elastin cDNAs in molecular hybridizations to establish the chromosomal location of the human elastin gene...
  34. Pellicoro A, Aucott R, Ramachandran P, Robson A, Fallowfield J, Snowdon V, et al. Elastin accumulation is regulated at the level of degradation by macrophage metalloelastase (MMP-12) during experimental liver fibrosis. Hepatology. 2012;55:1965-75 pubmed publisher
    ..b>Tropoelastin expression increased with duration of injury...
  35. Osei Owusu P, Knutsen R, Kozel B, Dietrich H, Blumer K, Mecham R. Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency. Am J Physiol Heart Circ Physiol. 2014;306:H654-66 pubmed publisher
    b>Elastin (Eln) insufficiency in mice and humans is associated with hypertension and altered structure and mechanical properties of large arteries...
  36. Maki J, Sormunen R, Lippo S, Kaarteenaho Wiik R, Soininen R, Myllyharju J. Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues. Am J Pathol. 2005;167:927-36 pubmed
    Lysyl oxidases, a family comprising LOX and four LOX-like enzymes, catalyze crosslinking of elastin and collagens...
  37. Hilgendorff A, Parai K, Ertsey R, Navarro E, Jain N, Carandang F, et al. Lung matrix and vascular remodeling in mechanically ventilated elastin haploinsufficient newborn mice. Am J Physiol Lung Cell Mol Physiol. 2015;308:L464-78 pubmed publisher
    ..In response to MV, lung tropoelastin and elastase activity increased in Eln(+/+) neonates, whereas tropoelastin decreased and elastase activity was ..
  38. Turner C, Badu Nkansah K, Crowley D, van der Flier A, Hynes R. α5 and αv integrins cooperate to regulate vascular smooth muscle and neural crest functions in vivo. Development. 2015;142:797-808 pubmed publisher
    ..Analysis of cultured α5/αv-deficient vSMCs suggests that this is achieved, at least in part, through proper assembly of RGD-containing extracellular matrix proteins and the correct incorporation and activation of latent TGF-β. ..
  39. Li S, Xiang M. Foxn4 influences alveologenesis during lung development. Dev Dyn. 2011;240:1512-7 pubmed publisher
    ..These data together suggest that Foxn4 may have a non-cell-autonomous role critical for alveologenesis during lung development. ..
  40. Hirano E, Knutsen R, Sugitani H, Ciliberto C, Mecham R. Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease. Circ Res. 2007;101:523-31 pubmed
    Diseases linked to the elastin gene arise from loss-of-function mutations leading to protein insufficiency (supravalvular aortic stenosis) or from missense mutations that alter the properties of the elastin protein (dominant cutis laxa)...
  41. Kuang P, Goldstein R, Liu Y, Rishikof D, Jean J, Joyce Brady M. Coordinate expression of fibulin-5/DANCE and elastin during lung injury repair. Am J Physiol Lung Cell Mol Physiol. 2003;285:L1147-52 pubmed
    ..previously known as DANCE and EVEC, is a secreted extracellular matrix protein that functions as a scaffold for elastin fiber assembly and as a ligand for integrins alphavbeta3, alphavbeta5, and alpha9beta1...
  42. El Bizri N, Guignabert C, Wang L, Cheng A, Stankunas K, Chang C, et al. SM22alpha-targeted deletion of bone morphogenetic protein receptor 1A in mice impairs cardiac and vascular development, and influences organogenesis. Development. 2008;135:2981-91 pubmed publisher
    ..Thus, loss of Bmpr1a, by decreasing MMP2 and/or MMP9 activity, can account for vascular dilatation and persistence of brain microvessels, leading to the impaired organogenesis documented in the brain. ..
  43. Dai X, Jiang W, Zhang Q, Xu L, Geng P, Zhuang S, et al. Requirement for integrin-linked kinase in neural crest migration and differentiation and outflow tract morphogenesis. BMC Biol. 2013;11:107 pubmed publisher
    ..Changes in these pathways may collectively result in the unique neural crest and outflow tract phenotypes observed in ILK mutants. ..
  44. Alkemade F, Gittenberger de Groot A, Schiel A, VanMunsteren J, Hogers B, van Vliet L, et al. Intrauterine exposure to maternal atherosclerotic risk factors increases the susceptibility to atherosclerosis in adult life. Arterioscler Thromb Vasc Biol. 2007;27:2228-35 pubmed
    ..Future research will concentrate on the mechanisms involved in this priming process, as well as on prevention strategies. ..
  45. Jaffe M, Sesti C, Washington I, Du L, Dronadula N, Chin M, et al. Transforming growth factor-? signaling in myogenic cells regulates vascular morphogenesis, differentiation, and matrix synthesis. Arterioscler Thromb Vasc Biol. 2012;32:e1-11 pubmed publisher
    ..KO aortas had only rare mature elastin deposits and contained abnormal aggregates of extracellular matrix proteins...
  46. Wong C, Rothuizen T, de Vries M, Rabelink T, Hamming J, van Zonneveld A, et al. Elastin is a key regulator of outward remodeling in arteriovenous fistulas. Eur J Vasc Endovasc Surg. 2015;49:480-6 pubmed publisher
    ..resulted in fragmentation of the venous internal elastic lamina in both groups while the expression of the tropoelastin mRNA was 53% lower in the eln(+/-) mice than in WT mice (p < .001)...
  47. Luetkemeyer C, James R, Devarakonda S, Le V, Liu Q, Han H, et al. Critical buckling pressure in mouse carotid arteries with altered elastic fibers. J Mech Behav Biomed Mater. 2015;46:69-82 pubmed publisher
    ..We use mouse models of human disease with reduced amounts of elastin (Eln+/-) and with defects in elastic fiber assembly due to the absence of fibulin-5 (Fbln5-/-)...
  48. Lemack G, Szabo Z, Urban Z, Boyd C, Csiszar K, Vaughan E, et al. Altered bladder function in transgenic mice expressing rat elastin. Neurourol Urodyn. 1999;18:55-68 pubmed
    ..The most abundant component of elastic fibers is elastin, whose soluble precursor is tropoelastin. To establish the role elastin plays in the bladder, this study describes the biosynthetic, histologic, and ..
  49. Bouwman P, Gollner H, Elsasser H, Eckhoff G, Karis A, Grosveld F, et al. Transcription factor Sp3 is essential for post-natal survival and late tooth development. EMBO J. 2000;19:655-61 pubmed
    ..Comparison of the Sp1 and Sp3 knockout phenotype shows that Sp1 and Sp3 have distinct functions in vivo, but also suggests a degree of functional redundancy...
  50. Macauley S, Tarnuzzer R, Schultz G, Chegini N, Oxford G, Humphreys Beher M. Extracellular-matrix gene expression during mouse submandibular gland development. Arch Oral Biol. 1997;42:443-54 pubmed
    ..to measure the direct expression of collagens alpha2(I), alpha1(III), alpha1(IV), fibronectin, laminin B2, elastin and lysyl oxidase genes...
  51. Misra A, Sheikh A, Kumar A, Luo J, Zhang J, Hinton R, et al. Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis. J Exp Med. 2016;213:451-63 pubmed publisher
    ..and induced pluripotent stem cells (iPSCs) to investigate supravalvular aortic stenosis (SVAS) patients and/or elastin mutant mice that model SVAS...
  52. Spiekerkoetter E, Alvira C, Kim Y, Bruneau A, Pricola K, Wang L, et al. Reactivation of gammaHV68 induces neointimal lesions in pulmonary arteries of S100A4/Mts1-overexpressing mice in association with degradation of elastin. Am J Physiol Lung Cell Mol Physiol. 2008;294:L276-89 pubmed
    ..that a vasculotropic virus could induce neointimal lesions in the S100A4/Mts1 mouse by facilitating breakdown of elastin and migration and proliferation of smooth muscle cells...
  53. Ma X, Tittiger M, Knutsen R, Kovacs A, Schaller L, Mecham R, et al. Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. Mol Genet Metab. 2008;94:298-304 pubmed publisher
    ..It results in fragmentation of elastin fibers in the aorta and heart valves via mechanisms that are unclear, but may result from the accumulation of the ..
  54. Jiao Y, Li G, Li Q, Ali R, Qin L, Li W, et al. mTOR (Mechanistic Target of Rapamycin) Inhibition Decreases Mechanosignaling, Collagen Accumulation, and Stiffening of the Thoracic Aorta in Elastin-Deficient Mice. Arterioscler Thromb Vasc Biol. 2017;37:1657-1666 pubmed publisher
    b>Elastin deficiency because of heterozygous loss of an ELN allele in Williams syndrome causes obstructive aortopathy characterized by medial thickening and fibrosis and consequent aortic stiffening...
  55. Liu S, Young S, Varisco B. Dynamic expression of chymotrypsin-like elastase 1 over the course of murine lung development. Am J Physiol Lung Cell Mol Physiol. 2014;306:L1104-16 pubmed publisher
    ..Because normal elastin structure is important for lung morphogenesis, because physiological remodeling of lung elastin has never been ..
  56. Sugitani H, Hirano E, Knutsen R, Shifren A, Wagenseil J, Ciliberto C, et al. Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem. 2012;287:22055-67 pubmed publisher
    ..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.
  57. Kozel B, Wachi H, Davis E, Mecham R. Domains in tropoelastin that mediate elastin deposition in vitro and in vivo. J Biol Chem. 2003;278:18491-8 pubmed
    ..To identify domains in the tropoelastin molecule important for the assembly process, we utilized an in vitro assembly model to map sequences within ..
  58. Spencer J, Hacker S, Davis E, Mecham R, Knutsen R, Li D, et al. Altered vascular remodeling in fibulin-5-deficient mice reveals a role of fibulin-5 in smooth muscle cell proliferation and migration. Proc Natl Acad Sci U S A. 2005;102:2946-51 pubmed
    Fibulin (fbln)-5 is an elastin-binding protein required for assembly and organization of elastic fibers...
  59. Hsu Y, Osinski J, Campbell C, Litwack E, Wang D, Liu S, et al. Mesenchymal nuclear factor I B regulates cell proliferation and epithelial differentiation during lung maturation. Dev Biol. 2011;354:242-52 pubmed publisher
    ..Our data indicate that mesenchymal Nfib regulates both mesenchymal and epithelial cell proliferation through multiple pathways and that mesenchymal NFI-B-mediated signals are essential for the maturation of distal lung epithelium. ..
  60. Alvira C, Guignabert C, Kim Y, Chen C, Wang L, Duong T, et al. Inhibition of transforming growth factor ? worsens elastin degradation in a murine model of Kawasaki disease. Am J Pathol. 2011;178:1210-20 pubmed publisher
    ..Because transforming growth factor (TGF) ? increases elastin synthesis and suppresses proteolysis, we hypothesized that, in contrast to the benefit observed in aneurysms ..
  61. Kozel B, Knutsen R, Ye L, Ciliberto C, Broekelmann T, Mecham R. Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation. J Biol Chem. 2011;286:44926-36 pubmed publisher
    b>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...
  62. Chung M, Miao M, Stahl R, Chan E, Parkinson J, Keeley F. Sequences and domain structures of mammalian, avian, amphibian and teleost tropoelastins: Clues to the evolutionary history of elastins. Matrix Biol. 2006;25:492-504 pubmed publisher
    b>Tropoelastin is the monomeric form of elastin, a polymeric extracellular matrix protein responsible for properties of extensibility and elastic recoil in connective tissues of most vertebrates...
  63. Gabriela Espinosa M, Gardner W, Bennett L, Sather B, Yanagisawa H, Wagenseil J. The effects of elastic fiber protein insufficiency and treatment on the modulus of arterial smooth muscle cells. J Biomech Eng. 2014;136:021030 pubmed publisher
    ..The elastic moduli of SMCs from elastin (Eln-/-) and fibulin-4 (Fbln4-/-) knockout mice were measured using atomic force microscopy...
  64. Chandramouli A, Simundza J, PINDERHUGHES A, Hiremath M, Droguett G, Frendewey D, et al. Ltbp1L is focally induced in embryonic mammary mesenchyme, demarcates the ductal luminal lineage and is upregulated during involution. Breast Cancer Res. 2013;15:R111 pubmed publisher
    ..We hypothesize that Ltbp1 functions in a mechanosensory capacity to establish and maintain ductal luminal cell fate, support and detect ductal distension, trigger irreversible involution, and facilitate nipple sphincter function. ..
  65. Wagenseil J, Ciliberto C, Knutsen R, Levy M, Kovacs A, Mecham R. The importance of elastin to aortic development in mice. Am J Physiol Heart Circ Physiol. 2010;299:H257-64 pubmed publisher
    b>Elastin is an essential component of vertebrate arteries that provides elasticity and stores energy during the cardiac cycle...
  66. Gao Z, Kim G, MacKinnon A, Flagg A, Bassett B, Earley J, et al. Ets1 is required for proper migration and differentiation of the cardiac neural crest. Development. 2010;137:1543-51 pubmed publisher
  67. Karnik S, Brooke B, Bayes Genis A, Sorensen L, Wythe J, Schwartz R, et al. A critical role for elastin signaling in vascular morphogenesis and disease. Development. 2003;130:411-23 pubmed
    ..Previously, we demonstrated that the disruption of the elastin matrix leads to defective arterial morphogenesis...
  68. Shifren A, Durmowicz A, Knutsen R, Hirano E, Mecham R. Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema. Am J Physiol Lung Cell Mol Physiol. 2007;292:L778-87 pubmed
    ..We report that the quantity of functional elastin in the lung is an important modifier of both lung development and response to injury...
  69. Nandadasa S, Nelson C, Apte S. ADAMTS9-Mediated Extracellular Matrix Dynamics Regulates Umbilical Cord Vascular Smooth Muscle Differentiation and Rotation. Cell Rep. 2015;11:1519-28 pubmed publisher
    ..In addition, we observed disrupted Shh signaling and perturbed orientation of the mesenchymal primary cilium. Thus, ECM dynamics is a major influence on umbilical vascular SMC fate, with ADAMTS9 acting as its principal mediator. ..
  70. Hanson K, Jung J, Tran Q, Hsu S, Iida R, Ajeti V, et al. Spatial and temporal analysis of extracellular matrix proteins in the developing murine heart: a blueprint for regeneration. Tissue Eng Part A. 2013;19:1132-43 pubmed publisher
    ..localization, and relative amount of the four essential ECM proteins, collagen types I and IV (COLI, COLIV), elastin (ELN), and fibronectin (FN) in the left ventricle of the murine heart at embryonic stages E12.5, E14.5, and E16...
  71. Han W, Guo C, Liu Q, Yu B, Liu Z, Yang J, et al. Aberrant elastin remodeling in the lungs of Oâ‚‚-exposed newborn mice; primarily results from perturbed interaction between integrins and elastin. Cell Tissue Res. 2015;359:589-603 pubmed publisher
    ..Lung histology revealed aberrant elastin production and impaired lung septation in O2-exposed lungs, while tropoelastin, integrin αv, fibulin-1, fibulin-2 and fibulin-4 gene expression were elevated...
  72. Steinhart M, Cone Kimball E, Nguyen C, Nguyen T, Pease M, Chakravarti S, et al. Susceptibility to glaucoma damage related to age and connective tissue mutations in mice. Exp Eye Res. 2014;119:54-60 pubmed publisher
    ..We used mice haploinsufficient in the elastin gene (EH) and mice without both alleles of the fibromodulin gene (FM KO) and their wild type (WT) littermates of ..
  73. Khavandgar Z, Roman H, Li J, Lee S, Vali H, Brinckmann J, et al. Elastin haploinsufficiency impedes the progression of arterial calcification in MGP-deficient mice. J Bone Miner Res. 2014;29:327-37 pubmed publisher
    ..Considering the known mineral scaffolding function of elastin (ELN), a major elastic lamina protein, we hypothesize that elastin content in the laminae is a critical ..
  74. Shen D, Li J, Lepore J, Anderson T, Sinha S, Lin A, et al. Aortic aneurysm generation in mice with targeted deletion of integrin-linked kinase in vascular smooth muscle cells. Circ Res. 2011;109:616-28 pubmed publisher
    ..Activation of this pathway is required for morphogenetic development of the aorta and ductus arteriosus during embryonic and postnatal survival. ..
  75. Consonni S, Werneck C, Sobreira D, Kühne F, Moraes S, Alvares L, et al. Elastic fiber assembly in the adult mouse pubic symphysis during pregnancy and postpartum. Biol Reprod. 2012;86:151, 1-10 pubmed publisher
    ..Our analyses also indicated that elastin/tropoelastin, fibrillin 1, LOXL1/Loxl1, and fibulin 5 were spatially and temporally regulated, suggesting that these ..
  76. Hoffman A, Shifren A, Mazan M, Gruntman A, Lascola K, Nolen Walston R, et al. Matrix modulation of compensatory lung regrowth and progenitor cell proliferation in mice. Am J Physiol Lung Cell Mol Physiol. 2010;298:L158-68 pubmed publisher
    ..are affected by physical factors found in the lung of emphysematics, including loss of elastic recoil, reduced elastin content, and alveolar destruction...
  77. Ivey K, Sutcliffe D, Richardson J, Clyman R, Garcia J, Srivastava D. Transcriptional regulation during development of the ductus arteriosus. Circ Res. 2008;103:388-95 pubmed publisher
  78. Thimm T, Squirrell J, Liu Y, Eliceiri K, Ogle B. Endogenous Optical Signals Reveal Changes of Elastin and Collagen Organization During Differentiation of Mouse Embryonic Stem Cells. Tissue Eng Part C Methods. 2015;21:995-1004 pubmed publisher
    ..We examined the efficacy of utilizing the endogenous optical signals of two important ECM proteins, elastin (Eln), through autofluorescence, and type I collagen (ColI), through second harmonic generation (SHG), during ..
  79. Hinton R, Adelman Brown J, Witt S, Krishnamurthy V, Osinska H, Sakthivel B, et al. Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model. Circ Res. 2010;107:549-57 pubmed publisher
    b>Elastin is a ubiquitous extracellular matrix protein that is highly organized in heart valves and arteries...
  80. Foronjy R, Imai K, Shiomi T, Mercer B, Sklepkiewicz P, Thankachen J, et al. The divergent roles of secreted frizzled related protein-1 (SFRP1) in lung morphogenesis and emphysema. Am J Pathol. 2010;177:598-607 pubmed publisher
    ..Thus, SFRP1 induction during tissue injury is unlikely to contribute to the repair response but rather is a participatory factor in the pathogenesis of emphysema and tissue destruction...
  81. Nakamichi R, Ito Y, Inui M, Onizuka N, Kayama T, Kataoka K, et al. Mohawk promotes the maintenance and regeneration of the outer annulus fibrosus of intervertebral discs. Nat Commun. 2016;7:12503 pubmed publisher
    ..Mesenchymal stem cells overexpressing Mkx promote functional AF regeneration in a mouse AF defect model, with abundant collagen fibril formation. Our results indicate a therapeutic strategy for AF regeneration. ..
  82. Schurr E, Skamene E, Morgan K, Chu M, Gros P. Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics. 1990;8:477-86 pubmed
    ..The loci investigated were NEB/Neb, ELN/Eln, COL3A1/Col3a1, CRYG/Len-2, FN1/Fn-1, VIL/Vil, and COL6A3/Col6a3...
  83. Passman J, Dong X, Wu S, Maguire C, Hogan K, Bautch V, et al. A sonic hedgehog signaling domain in the arterial adventitia supports resident Sca1+ smooth muscle progenitor cells. Proc Natl Acad Sci U S A. 2008;105:9349-54 pubmed publisher
    ..We conclude that a restricted domain of Shh signaling is localized to the arterial adventitia and may play important roles in maintenance of resident vascular SMC progenitor cells in the artery wall. ..
  84. Wang X, Inoue S, Gu J, Miyoshi E, Noda K, Li W, et al. Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice. Proc Natl Acad Sci U S A. 2005;102:15791-6 pubmed
    ..associated with lung-destructive phenotypes, and a down-regulation of extracellular matrix (ECM) proteins such as elastin, as well as retarded alveolar epithelia cell differentiation...
  85. Tsao P, Matsuoka C, Wei S, Sato A, Sato S, Hasegawa K, et al. Epithelial Notch signaling regulates lung alveolar morphogenesis and airway epithelial integrity. Proc Natl Acad Sci U S A. 2016;113:8242-7 pubmed publisher
    ..Our data suggest that epithelial Notch signaling regulates multiple aspects of postnatal development in the distal lung and may represent a potential target for intervention in pulmonary diseases. ..