elastin

Summary

Gene Symbol: elastin
Description: elastin
Alias: ADCL1, SVAS, WBS, elastin, tropoelastin
Species: human
Products:     elastin

Top Publications

  1. Hofer A, Hermans M, Kubassek N, Sitzer M, Funke H, Stögbauer F, et al. Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe. Stroke. 2003;34:1207-11 pubmed
    ..Recent genomic studies in Japan have defined 3 chromosomal loci and 1 haplotype of elastin polymorphisms as important risk factors, both for affected sib pairs and sporadic patients...
  2. Megarbane H, Florence J, Sass J, Schwonbeck S, Foglio M, de Cid R, et al. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J Invest Dermatol. 2009;129:1650-5 pubmed publisher
    ..Autosomal-dominant forms are relatively mild, and may be caused by mutations in the elastin gene, whereas the more severe recessive forms have been associated with mutations in the fibulin 4 and fibulin 5 ..
  3. Hu Q, Loeys B, Coucke P, De Paepe A, Mecham R, Choi J, et al. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006;15:3379-86 pubmed
    ..Purified recombinant fibulin-5 with either mutation showed reduced affinity for tropoelastin in solid-phase binding assays...
  4. Freeman L, Lomas A, Hodson N, Sherratt M, Mellody K, Weiss A, et al. Fibulin-5 interacts with fibrillin-1 molecules and microfibrils. Biochem J. 2005;388:1-5 pubmed
    ..Fibulin-5 interacted in a dose-dependent manner with a fibrillin-1 N-terminal sequence and with tropoelastin, but not with MAGP-1 (microfibril-associated glycoprotein-1) or decorin...
  5. Gheduzzi D, Guerra D, Bochicchio B, Pepe A, Tamburro A, Quaglino D, et al. Heparan sulphate interacts with tropoelastin, with some tropoelastin peptides and is present in human dermis elastic fibers. Matrix Biol. 2005;24:15-25 pubmed
    ..with normal elastic fibers in human dermis and that isolated HS chains interact in vitro with recombinant tropoelastin and with peptides encoded by distinct exons of the human tropoelastin gene (EDPs)...
  6. Clarke A, Wise S, Cain S, Kielty C, Weiss A. Coacervation is promoted by molecular interactions between the PF2 segment of fibrillin-1 and the domain 4 region of tropoelastin. Biochemistry. 2005;44:10271-81 pubmed
    In forming elastic fibers, microfibrils act as the scaffold sites for depositing the elastin precursor tropoelastin. We examined key binding interactions that promote massive tropoelastin association through coacervation...
  7. Getie M, Schmelzer C, Neubert R. Characterization of peptides resulting from digestion of human skin elastin with elastase. Proteins. 2005;61:649-57 pubmed
    Several pathological disorders are associated with abnormalities in elastic fibers, which are mainly composed of elastin. Understanding the biochemical basis of such disorders requires information about the primary structure of elastin...
  8. Hu Q, Reymond J, Pinel N, Zabot M, Urban Z. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J Invest Dermatol. 2006;126:283-90 pubmed
    ..Western blotting indicated abnormal proteolytic processing of tropoelastin (TE) in patient fibroblasts...
  9. Akagawa H, Tajima A, Sakamoto Y, Krischek B, Yoneyama T, Kasuya H, et al. A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. Hum Mol Genet. 2006;15:1722-34 pubmed
    ..b>Elastin and LIMK1 protein are involved in the same actin depolymerization signaling pathway; therefore, these lines of ..

More Information

Publications89

  1. Bochicchio B, Pepe A. Role of polyproline II conformation in human tropoelastin structure. Chirality. 2011;23:694-702 pubmed
    In this review, we present a comprehensive overview of the molecular studies on human tropoelastin domains accomplished by Tamburro and co-workers in the last decade...
  2. Tamburro A, Pepe A, Bochicchio B. Localizing alpha-helices in human tropoelastin: assembly of the elastin "puzzle". Biochemistry. 2006;45:9518-30 pubmed
    Polyalanine cross-linking domains encoded by exons 6, 15, 17, 19, 21, 23, 25, 27, 29, 31 of human tropoelastin were synthesized, and their conformations were studied in different solutions and at different temperatures by CD and (1)H NMR...
  3. Kondo N, Honda S, Ishibashi K, Tsukahara Y, Negi A. Elastin gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49:1101-5 pubmed publisher
    To study and reveal genetic variation in the elastin gene (ELN) that may be associated with neovascular age-related macular degeneration (AMD) and/or polypoidal choroidal vasculopathy (PCV)...
  4. El Hallous E, Sasaki T, Hubmacher D, Getie M, Tiedemann K, Brinckmann J, et al. Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. J Biol Chem. 2007;282:8935-46 pubmed
    ..Formation of ternary complexes between fibrillin-1, fibulins, and tropoelastin demonstrated that fibulin-2 and -5 but much less fibulin-4, are able to act as molecular adaptors between ..
  5. Yeo G, Baldock C, Tuukkanen A, Roessle M, Dyksterhuis L, Wise S, et al. Tropoelastin bridge region positions the cell-interactive C terminus and contributes to elastic fiber assembly. Proc Natl Acad Sci U S A. 2012;109:2878-83 pubmed publisher
    The tropoelastin monomer undergoes stages of association by coacervation, deposition onto microfibrils, and cross-linking to form elastic fibers...
  6. Akhtar K, Broekelmann T, Song H, Turk J, Brett T, Mecham R, et al. Oxidative modifications of the C-terminal domain of tropoelastin prevent cell binding. J Biol Chem. 2011;286:13574-82 pubmed publisher
    b>Tropoelastin (TE), the soluble monomer of elastin, is synthesized by elastogenic cells, such as chondrocytes, fibroblasts, and smooth muscle cells (SMCs)...
  7. Ostuni A, Bochicchio B, Armentano M, Bisaccia F, Tamburro A. Molecular and supramolecular structural studies on human tropoelastin sequences. Biophys J. 2007;93:3640-51 pubmed
    ..Previously, polypeptide sequences encoded by different exons of the human tropoelastin gene have been analyzed for their ability to coacervate and to self-assemble...
  8. Yamashiro K, Mori K, Nakata I, Tsuchihashi T, Horie Inoue K, Nakanishi H, et al. Association of elastin gene polymorphism to age-related macular degeneration and polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2011;52:8780-4 pubmed publisher
    To see if there is an association in Japanese between elastin gene (ELN) polymorphisms and neovascular age-related macular degeneration (AMD) or its subtypes, typical AMD (tAMD) and polypoidal choroidal vasculopathy (PCV)...
  9. Brown Augsburger P, Broekelmann T, Rosenbloom J, Mecham R. Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly. Biochem J. 1996;318 ( Pt 1):149-55 pubmed
    Studies in vitro suggest that the C-terminus of tropoelastin mediates elastin polymerization through an interaction with microfibril-associated proteins...
  10. Rosenbloom J. Elastin: relation of protein and gene structure to disease. Lab Invest. 1984;51:605-23 pubmed
    ..studies and in vitro translation of elastin mRNA have demonstrated that a 72,000-dalton polypeptide, designated tropoelastin, is the initial translation product...
  11. Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher B, et al. DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. Clin Biochem. 2009;42:713-21 pubmed publisher
    ..interactions among elastin, fibrillin-1, and fibulin-5 in the extracellular space and the maturation of tropoelastin using retinal pigment epithelial cells (ARPE-19)...
  12. Bashir M, Indik Z, Yeh H, Ornstein Goldstein N, Rosenbloom J, Abrams W, et al. Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region. J Biol Chem. 1989;264:8887-91 pubmed
    Genomic clones encompassing the entire human elastin gene, including 11 kilobases flanking the ATG translation initiation codon, have been obtained and characterized by restriction enzyme analysis and extensive DNA sequencing...
  13. Muiznieks L, Weiss A. Flexibility in the solution structure of human tropoelastin. Biochemistry. 2007;46:8196-205 pubmed
    We investigated the flexibility of full-length tropoelastin in solution by using far- and near-ultraviolet circular dichroism (UV CD) and fluorescence spectroscopy to probe for structural flexibility and residue mobility within secondary ..
  14. Bax D, Rodgers U, Bilek M, Weiss A. Cell adhesion to tropoelastin is mediated via the C-terminal GRKRK motif and integrin alphaVbeta3. J Biol Chem. 2009;284:28616-23 pubmed publisher
    Elastin fibers are predominantly composed of the secreted monomer tropoelastin. This protein assembly confers elasticity to all vertebrate elastic tissues including arteries, lung, skin, vocal folds, and elastic cartilage...
  15. Baldock C, Oberhauser A, Ma L, Lammie D, Siegler V, Mithieux S, et al. Shape of tropoelastin, the highly extensible protein that controls human tissue elasticity. Proc Natl Acad Sci U S A. 2011;108:4322-7 pubmed publisher
    Elastin enables the reversible deformation of elastic tissues and can withstand decades of repetitive forces. Tropoelastin is the soluble precursor to elastin, the main elastic protein found in mammals...
  16. Lee P, Bax D, Bilek M, Weiss A. A novel cell adhesion region in tropoelastin mediates attachment to integrin ?V?5. J Biol Chem. 2014;289:1467-77 pubmed publisher
    b>Tropoelastin protein monomers assemble to form elastin. Cellular integrin ?V?3 binds RKRK at the C-terminal tail of tropoelastin...
  17. Ruigrok Y, Seitz U, Wolterink S, Rinkel G, Wijmenga C, Urban Z. Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage. Stroke. 2004;35:2064-8 pubmed
    A locus containing the elastin gene has been linked to familial intracranial aneurysms in 2 distinct populations...
  18. Lima L, Merriam J, Freund K, Barbazetto I, Spaide R, Yannuzzi L, et al. Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians. Ophthalmic Genet. 2011;32:80-2 pubmed publisher
    To investigate the association of the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the elastin gene (ELN) with polypoidal choroidal vasculopathy (PCV) in European-American patients...
  19. Trask T, Trask B, Ritty T, Abrams W, Rosenbloom J, Mecham R. Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly. J Biol Chem. 2000;275:24400-6 pubmed
    Alignment of tropoelastin molecules during the process of elastogenesis is thought to require fibrillin-containing microfibrils...
  20. Hanon O, Luong V, Mourad J, Bortolotto L, Jeunemaitre X, Girerd X. Aging, carotid artery distensibility, and the Ser422Gly elastin gene polymorphism in humans. Hypertension. 2001;38:1185-9 pubmed
    b>Elastin is a protein of the extracellular matrix that forms the major component of elastic fibers from the arterial wall thickness and plays an important role in elastic properties of large blood vessels...
  21. Schmelzer C, Getie M, Neubert R. Mass spectrometric characterization of human skin elastin peptides produced by proteolytic digestion with pepsin and thermitase. J Chromatogr A. 2005;1083:120-6 pubmed
    ..4% calculated on the basis of the precursor tropoelastin (accession number A32707). A potential hydroxylation was found in 29% of the recovered prolines...
  22. Yanagisawa H, Davis E, Starcher B, Ouchi T, Yanagisawa M, Richardson J, et al. Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. Nature. 2002;415:168-71 pubmed
    ..The formation of elastic fibres requires the assembly and crosslinking of tropoelastin monomers, and organization of the resulting insoluble elastin matrix into functional fibres...
  23. Miao M, Bellingham C, Stahl R, Sitarz E, Lane C, Keeley F. Sequence and structure determinants for the self-aggregation of recombinant polypeptides modeled after human elastin. J Biol Chem. 2003;278:48553-62 pubmed
    ..The mechanism of assembly of the tropoelastin monomer into the elastin polymer probably involves extrinsic protein factors but is also related to an ..
  24. Thomassin L, Werneck C, Broekelmann T, Gleyzal C, Hornstra I, Mecham R, et al. The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers. J Biol Chem. 2005;280:42848-55 pubmed
    ..Ligand blot and mammalian two-hybrid assays confirmed an interaction between tropoelastin and the pro-regions of both LOX and LOXL...
  25. Wise S, Mithieux S, Raftery M, Weiss A. Specificity in the coacervation of tropoelastin: solvent exposed lysines. J Struct Biol. 2005;149:273-81 pubmed
    b>Tropoelastin protein monomers associate by coacervation and are cross-linked in vivo to form elastin macro-assemblies...
  26. Hagmeister U, Reuschlein K, März A, Wenck H, Gallinat S, Lucius R, et al. Poly(A) tail shortening correlates with mRNA repression in tropoelastin regulation. J Dermatol Sci. 2012;67:44-50 pubmed publisher
    It has been shown for various organisms that expression of tropoelastin (TE) is high during fetal and neonatal growth and that it is reduced in adulthood by an unknown mechanism...
  27. Wang W, Jashnani A, Aluri S, Gustafson J, Hsueh P, Yarber F, et al. A thermo-responsive protein treatment for dry eyes. J Control Release. 2015;199:156-67 pubmed publisher
    ..Inspired from the human tropoelastin protein, ELP protein polymers reversibly phase separate into viscous coacervates above a tunable transition ..
  28. Watts C, Knutsen R, Ciliberto C, Mecham R. Evidence for heterozygous abnormalities of the elastin gene (ELN) affecting the quantity of vocal fold elastic fibers: a pilot study. J Voice. 2011;25:e85-90 pubmed publisher
    To investigate the effects of a heterozygous elastin gene (Eln) abnormality (deletion of one Eln allele) on the structural characteristics of the vocal fold lamina propria using a mouse model of human disease...
  29. Funke M, Knudsen L, Lagares D, Ebener S, Probst C, Fontaine B, et al. Lysophosphatidic Acid Signaling through the Lysophosphatidic Acid-1 Receptor Is Required for Alveolarization. Am J Respir Cell Mol Biol. 2016;55:105-16 pubmed publisher
    ..b>Tropoelastin messenger RNA expression was decreased in KO lungs, whereas expression of matrix metalloproteinases degrading ..
  30. Li J, Du J, Fu H, Wang J, Yu Z. [Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:505-7 pubmed publisher
    To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient. Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation...
  31. Wise E, McIvor W, Mangione M. Assessing student usage, perception, and the utility of a Web-based simulation in a third-year medical school clerkship. J Clin Anesth. 2016;33:5-13 pubmed publisher
    The goals of this study were to assess students' usage data of Web-based simulation (WBS), to determine if it can fill gaps in clinical experience-based medical education, and to determine students' perceived value of this kind of ..
  32. Fontana M, Marconi G, Feenstra J, Fonzi E, Papayannidis C, Ghelli Luserna Di Rorà A, et al. Chromothripsis in acute myeloid leukemia: biological features and impact on survival. Leukemia. 2018;32:1609-1620 pubmed publisher
    ..CBA. FISH showed that chromothripsis is associated with marker, derivative, and ring chromosomes. In conclusion, chromothripsis frequently occurs in AML (6.6%) and influences patient prognosis and disease biology. ..
  33. Zhang M, He L, Giro M, Yong S, Tiller G, Davidson J. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). J Biol Chem. 1999;274:981-6 pubmed
    ..In several cases, skin fibroblast tropoelastin production is markedly reduced yet reversed in vitro by transforming growth factor-beta treatment...
  34. Tassabehji M, Metcalfe K, Hurst J, Ashcroft G, Kielty C, Wilmot C, et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet. 1998;7:1021-8 pubmed
    ..These findings suggest that the mutant tropoelastin protein is synthesized, secreted and incorporated into the elastic matrix, where it alters the architecture of ..
  35. Ingram J, Slade D, Church T, Francisco D, Heck K, Sigmon R, et al. Role of Matrix Metalloproteinases-1 and -2 in Interleukin-13-Suppressed Elastin in Airway Fibroblasts in Asthma. Am J Respir Cell Mol Biol. 2016;54:41-50 pubmed publisher
    b>Elastin synthesis and degradation in the airway and lung parenchyma contribute to airway mechanics, including airway patency and elastic recoil...
  36. Habibi L, Salmani H. Pivotal Impacts of Retrotransposon Based Invasive RNAs on Evolution. Front Microbiol. 2017;8:1957 pubmed publisher
    ..reverse transcriptase which is mainly responsible for RNA invasion of various transposable elements (L1s, Alus, and SVAs) and cellular mRNAs in to the genomic DNA...
  37. Borralleras C, Sahún I, Pérez Jurado L, Campuzano V. Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome. Mol Ther. 2015;23:1691-1699 pubmed publisher
    Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral phenotype...
  38. Szabo Z, Crepeau M, Mitchell A, Stephan M, Puntel R, Yin Loke K, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006;43:255-8 pubmed
    ..Electron microscopy showed extracellular elastin deposits lacking microfibrillar elements...
  39. Kaushal A, Zhang H, Karmaus W, Ray M, Torres M, Smith A, et al. Comparison of different cell type correction methods for genome-scale epigenetics studies. BMC Bioinformatics. 2017;18:216 pubmed publisher
    ..ReFACTor, RefFreeEWAS, and RefFreeCellMix R programs, along with one approach utilizing surrogate variables (SVAs)...
  40. Harumiya S, Takeda K, Sugiura T, Fukumoto Y, Tachikawa H, Miyazono K, et al. Characterization of ficolins as novel elastin-binding proteins and molecular cloning of human ficolin-1. J Biochem. 1996;120:745-51 pubmed
    A novel elastin-binding protein, EBP-37, was recently identified and purified from human plasma...
  41. Corley S, Canales C, Carmona Mora P, Mendoza Reinosa V, Beverdam A, Hardeman E, et al. RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome. BMC Genomics. 2016;17:450 pubmed publisher
    Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects...
  42. Song H, Qiu Z, Shen C, Wei W, Luo Q. Pulmonary metastases in differentiated thyroid cancer: efficacy of radioiodine therapy and prognostic factors. Eur J Endocrinol. 2015;173:399-408 pubmed publisher
    ..According to the results of (131)I whole-body scan (WBS), pulmonary metastases were classified as (131)I-avid and non-(131)I-avid...
  43. Mižíková I, Palumbo F, Tábi T, Herold S, Vadász I, Mayer K, et al. Perturbations to lysyl oxidase expression broadly influence the transcriptome of lung fibroblasts. Physiol Genomics. 2017;49:416-429 pubmed publisher
    ..Lysyl oxidases facilitate the covalent intra- and intermolecular cross-linking of collagen and elastin fibers, thereby imparting tensile strength to the extracellular matrix (ECM)...
  44. Reichheld S, Muiznieks L, Stahl R, Simonetti K, Sharpe S, Keeley F. Conformational transitions of the cross-linking domains of elastin during self-assembly. J Biol Chem. 2014;289:10057-68 pubmed publisher
    ..The monomeric precursor of elastin, tropoelastin, as well as polypeptides containing smaller subsets of the tropoelastin sequence, can self-assemble through a ..
  45. Jiao Y, Li G, Korneva A, Caulk A, Qin L, Bersi M, et al. Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency. Arterioscler Thromb Vasc Biol. 2017;37:930-941 pubmed publisher
    ..is characterized by obstructive aortopathy attributable to heterozygous loss of ELN, the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent ..
  46. 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)/..
  47. Pilecki B, Holm A, Schlosser A, Moeller J, Wohl A, Zuk A, et al. Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation. J Biol Chem. 2016;291:1103-14 pubmed publisher
    ..Binding analysis revealed that MFAP4 specifically binds tropoelastin and fibrillin-1 and -2, as well as the elastin cross-linking amino acid desmosine, and that it co-localizes ..
  48. Emanuel B, Cannizzaro L, Ornstein Goldstein N, Indik Z, Yoon K, May M, et al. Chromosomal localization of the human elastin gene. Am J Hum Genet. 1985;37:873-82 pubmed
    ..The recombinant clones were screened with an authentic sheep elastin cDNA, and one human clone that hybridized strongly was isolated and characterized...
  49. Apitz C, Schaefer J, Sieverding L, Rauch A, Hofbeck M. Spontaneous development and rupture of pulmonary artery aneurysm: a rare complication in an infant with peripheral pulmonary artery stenoses due to mutation of the elastin gene. Pediatr Cardiol. 2008;29:438-41 pubmed
    We present a 3-year-old boy with an elastin gene mutation and multiple peripheral pulmonary stenoses, who developed aneurysms of the pulmonary arteries spontaneously...
  50. Badiola K, BIRD C, Brocklesby W, Casson J, Chapman R, Coles S, et al. Experiences with a researcher-centric ELN. Chem Sci. 2015;6:1614-1629 pubmed publisher
    ..This perspective article describes the experiences of those researchers from several viewpoints, demonstrating how a web-based open source electronic notebook can meet the diverse needs of academic researchers. ..
  51. Sarangthem V, Cho E, Bae S, Singh T, Kim S, Kim S, et al. Construction and application of elastin like polypeptide containing IL-4 receptor targeting peptide. PLoS ONE. 2013;8:e81891 pubmed publisher
    ..In this study we designed a library of elastin like polypeptide (ELP) polymers containing tumor targeting AP1 peptide using recursive directional ligation ..
  52. Lin S, Mequanint K. Bioreactor-induced mesenchymal progenitor cell differentiation and elastic fiber assembly in engineered vascular tissues. Acta Biomater. 2017;59:200-209 pubmed publisher
    ..More importantly, pulsatile perfusion bioreactor cultivation enhanced the synthesis of tropoelastin and its extracellular cross-linking into elastic fiber compared with static culture controls...
  53. Paterakis K, Koutsias S, Doxani C, Xanthopoulou P, Kokkali C, Mpoulimari I, et al. Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach. Int J Neurosci. 2017;127:567-572 pubmed publisher
    ..The genetic association studies (GAS) that investigated the association between IA and elastin gene (ELN) variants have produced contradictory or inconclusive results...
  54. Ying Q, Simon S. Elastolysis by proteinase 3 and its inhibition by alpha(1)-proteinase inhibitor: a mechanism for the incomplete inhibition of ongoing elastolysis. Am J Respir Cell Mol Biol. 2002;26:356-61 pubmed
    An excess of proteinase 3 (Pr3) is an assumed risk factor for elastin loss in chronic obstructive pulmonary disease...
  55. Annovi G, Boraldi F, Moscarelli P, Guerra D, Tiozzo R, Parma B, et al. Heparan sulfate affects elastin deposition in fibroblasts cultured from donors of different ages. Rejuvenation Res. 2012;15:22-31 pubmed publisher
    ..we have recently shown that HS is present inside elastic fibers and plays a role in the assembly and stability of elastin coacervates...
  56. Jelsig A, Urban Z, Hucthagowder V, Nissen H, Ousager L. Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. Eur J Med Genet. 2017;60:110-113 pubmed publisher
    ..This report emphasises the importance of family history, genetic counselling, and demonstrates the great variability in the phenotype within a single SVAS family.
  57. Kim J, Staiculescu M, Cocciolone A, Yanagisawa H, Mecham R, Wagenseil J. Crosslinked elastic fibers are necessary for low energy loss in the ascending aorta. J Biomech. 2017;61:199-207 pubmed publisher
    In the large arteries, it is believed that elastin provides the resistance to stretch at low pressure, while collagen provides the resistance to stretch at high pressure...
  58. Wiggs J, Pasquale L. Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. J Glaucoma. 2014;23:S62-3 pubmed publisher
    ..Collectively, these results suggest that dysregulation of LOXL1 expression is a contributing factor to exfoliation disease development. ..
  59. Zenkel M, Krysta A, Pasutto F, Juenemann A, Kruse F, Schlötzer Schrehardt U. Regulation of lysyl oxidase-like 1 (LOXL1) and elastin-related genes by pathogenic factors associated with pseudoexfoliation syndrome. Invest Ophthalmol Vis Sci. 2011;52:8488-95 pubmed publisher
    ..the effect of various PEX-associated pathogenic factors on the genotype-correlated expression of LOXL1 and elastin-related genes...
  60. Merrilees M, Falk B, Zuo N, Dickinson M, May B, Wight T. Use of versican variant V3 and versican antisense expression to engineer cultured human skin containing increased content of insoluble elastin. J Tissue Eng Regen Med. 2017;11:295-305 pubmed publisher
    ..Forced expression of V3 and versican antisense slowed growth, decreased versican V1 expression, increased tropoelastin expression and/or the deposition of large aggregates of insoluble elastin in the dermal layer, and increased ..
  61. Reddel C, Cultrone D, Rnjak Kovacina J, Weiss A, Burgess J. Tropoelastin modulates TGF-?1-induced expression of VEGF and CTGF in airway smooth muscle cells. Matrix Biol. 2013;32:407-13 pubmed publisher
    Elastin is predominantly comprised of crosslinked tropoelastin. For many years elastin was considered to serve a solely structural role but is now being increasingly identified as causal in cell signaling, development and repair...
  62. Reinboth B, Hanssen E, Cleary E, Gibson M. Molecular interactions of biglycan and decorin with elastic fiber components: biglycan forms a ternary complex with tropoelastin and microfibril-associated glycoprotein 1. J Biol Chem. 2002;277:3950-7 pubmed
    ..dermatan sulfate proteoglycans biglycan and decorin have been investigated with the elastic fiber components, tropoelastin, fibrillin-containing microfibrils, and microfibril-associated glycoproteins (MAGP) 1 and 2...
  63. Jan S, Chan S, Fu Y, Lin S. Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm. Acta Cardiol. 2009;64:363-9 pubmed
    ..whether isolated congenital ductus arteriosus aneurysm (DAA) is caused by loss of function of mutations in the elastin gene (ELN), we screened the elastin gene, which has been proposed as a candidate gene in DAA...
  64. Fhayli W, Ghandour Z, Mariko B, Pezet M, Faury G. [Elastin and microfibrils in vascular development and ageing: complementary or opposite roles?]. Biol Aujourdhui. 2012;206:87-102 pubmed publisher
    ..Stimulation of the high affinity elastin receptor by elastin peptides or tropoelastin--the elastin precursor--triggers an increase in intracellular free calcium in vascular cells, especially ..
  65. Smith E, Tomlinson L, Ford M, McMahon L, Rajkumar C, Holt S. Elastin degradation is associated with progressive aortic stiffening and all-cause mortality in predialysis chronic kidney disease. Hypertension. 2012;59:973-8 pubmed publisher
    In the large conduit arteries, elastin is important in maintaining vascular compliance. Studies in animal models suggest that elastin degradation may promote arteriosclerotic vascular changes...
  66. Fazio M, Olsen D, Kauh E, Baldwin C, Indik Z, Ornstein Goldstein N, et al. Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides. J Invest Dermatol. 1988;91:458-64 pubmed
    ..These results demonstrate that there is considerable variability in the processed nucleotide sequence of the elastin mRNAs. These transcripts may code for isoforms of tropoelastin with different biologic properties.
  67. Krex D, Konig I, Ziegler A, Schackert H, Schackert G. Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences. Cerebrovasc Dis. 2004;18:104-10 pubmed
    ..Recently, the genetic locus around the elastin gene (7q11) has been identified as linked to IA in a Japanese population...
  68. Okada K, Moon H, Finney J, Couture F, Day R, Mure M. WITHDRAWN: PACE4 Proteolytically Processes LOXL2 with little impact on its catalytic activity. J Biol Chem. 2017;: pubmed publisher
    ..This article has been withdrawn by the authors. Figs 1C, 2A, and 2E contained some inadvertently mislabeled data. The authors state that the mislabeling does not affect the conclusions of the article. ..
  69. Rodgers U, Weiss A. Integrin alpha v beta 3 binds a unique non-RGD site near the C-terminus of human tropoelastin. Biochimie. 2004;86:173-8 pubmed
    b>Tropoelastin is the soluble precursor of the essential resilient connective tissue protein elastin. We examined the binding of integrin alpha(v)beta(3) to tropoelastin...
  70. Asciutto G, Dias N, Edsfeldt A, Nitulescu M, Persson A, Nilsson M, et al. Low elastin content of carotid plaques is associated with increased risk of ipsilateral stroke. PLoS ONE. 2015;10:e0121086 pubmed publisher
    ..The aim of the present study was to investigate if the content of elastin, collagen and of the matrix metalloproteinase (MMP) -1, -3, -9 and -12 in plaques removed at surgery can be ..
  71. Osborne L, Martindale D, Scherer S, Shi X, Huizenga J, Heng H, et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics. 1996;36:328-36 pubmed
    ..23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the ..
  72. Airhart N, Brownstein B, Cobb J, Schierding W, Arif B, Ennis T, et al. Smooth muscle cells from abdominal aortic aneurysms are unique and can independently and synergistically degrade insoluble elastin. J Vasc Surg. 2014;60:1033-41; discussion 1041-2 pubmed publisher
    ..We quantified elastolytic activity by culturing SMCs in [(3)H]elastin-coated plates and measuring solubilized tritium in the media after 7 days...
  73. Li D, Faury G, Taylor D, Davis E, Boyle W, Mecham R, et al. Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest. 1998;102:1783-7 pubmed
    ..Through a series of molecular genetic studies, we demonstrated that loss-of-function mutations in one elastin allele cause an inherited obstructive arterial disease, supravalvular aortic stenosis (SVAS)...
  74. Zenkel M, Schlötzer Schrehardt U. Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. J Glaucoma. 2014;23:S48-50 pubmed publisher
    ..with XFS with and without glaucoma, and normal control eyes were analyzed for major elastic fiber components (elastin, fibrillin-1, fibulin-4), and lysyl oxidase (LOX) enzymes by real-time PCR, immunohistochemistry, and electron ..
  75. Landau S, Szklanny A, Yeo G, Shandalov Y, Kosobrodova E, Weiss A, et al. Tropoelastin coated PLLA-PLGA scaffolds promote vascular network formation. Biomaterials. 2017;122:72-82 pubmed publisher
    ..b>Tropoelastin, the precursor of the elastin, is the ECM protein responsible for elasticity in diverse tissues, including ..
  76. Bunda S, Liu P, Wang Y, Liu K, Hinek A. Aldosterone induces elastin production in cardiac fibroblasts through activation of insulin-like growth factor-I receptors in a mineralocorticoid receptor-independent manner. Am J Pathol. 2007;171:809-19 pubmed
    ..Most importantly, we demonstrated that aldosterone also increases elastin mRNA levels, tropoelastin synthesis, and elastic fiber deposition in a dose-dependent manner...
  77. Urban Z, Agapova O, Hucthagowder V, Yang P, Starcher B, Hernandez M. Population differences in elastin maturation in optic nerve head tissue and astrocytes. Invest Ophthalmol Vis Sci. 2007;48:3209-15 pubmed
    ..b>Tropoelastin protein expression was assessed by immunoblot analysis...
  78. Reichheld S, Muiznieks L, Keeley F, Sharpe S. Direct observation of structure and dynamics during phase separation of an elastomeric protein. Proc Natl Acad Sci U S A. 2017;114:E4408-E4415 pubmed publisher
    ..Coacervation of the elastin monomer, tropoelastin, in response to heat and salt is a critical step in the assembly of elastic fibers in vivo, preceding chemical ..
  79. Viana M, Frasson M, Leão L, Stofanko M, Gonçalves Dornelas H, Cunha P, et al. A new case of keratoconus associated with Williams-Beuren syndrome. Ophthalmic Genet. 2013;34:174-7 pubmed publisher
    ..The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus. ..
  80. Zhang S, Zhang L, Yu H. [Expression of elastin, lysyl oxidase and elafin in the cardinal ligament of women with pelvic organ prolapse]. Zhonghua Fu Chan Ke Za Zhi. 2008;43:675-9 pubmed
    To investigate expression of elastin, lysyl oxidase (LOX) and elafin in cardinal ligament of women with pelvic organ prolapse (POP) so as to determine their contributions to POP...