ELN Antibody

1. The functional role of PAX5-ELN as a potent oncoprotein in B-cell acute lymphoblastic leukemia development. PMID: 30257940
2. Elastin plays an important role in the growth of A. fumigatus and that it participates in the formation of thick biofilm. PMID: 29452851
3. Molecular model of human tropoelastin and implications of associated mutations PMID: 29946030
4. Study implies that the rs2856728 variant in elastin gene polymorphisms might play crucial roles in the development and pathogenesis of intracranial aneurysms in Korean population. PMID: 29129841
5. Degradation of tropoelastin and skin elastin by neprilysin PMID: 29196110
6. exogenous growth factors enhance the expression of cola1, cola3, and Elastin, which is probably regulated via activating MAPK signaling pathway. PMID: 29185160
7. In conclusion, our results support the view that lysyl oxidase (LOX) and tropoelastin are present on the cell surface and suggests the possibility that lysine oxidation by LOX precedes tropoelastin deposition onto microfibrils. PMID: 28966236
8. Elastin degradation was correlated with age in COPD patients, smoker controls, and non-smoker controls. The correlation was weaker in the smoker control group compared with the never-smoker control or COPD group. PMID: 27587547
9. The aim was to examine if the serum concentrations of elastin-related proteins correlate to signs of cardiovascular diseases in patients with Diabetes mellitus type 2. PMID: 28715234
10. There is evidence that the ELN variant INT20 1315T > C is implicated in the development of intracranial aneurysm. PMID: 27687579
11. Direct gene sequencing of ELN confirmed the diagnosis showing a previously undescribed c.2156del (p.Gly719Glufs*36) mutation in exon 30 of ELN gene. This mutation results in a shift of the reading frame. PMID: 28383366
12. Here we report a second adult Williams-Beuren syndrome (WBS)patient with emphysema where the diagnosis of WBS was established subsequent to the discovery of severe bullous emphysema. Haploinsufficiency of ELN likely contributed to this pulmonary manifestation of WBS. PMID: 28574231
13. the study contributes to a better understanding of the correlation between genotypic and elastin-related phenotypic features of Williams-Beuren syndrome patients PMID: 27311421
14. We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease, a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. This case suggests the possible progression of cerebral arteriopathy including moyamoya disease in patients with elastin mutations PMID: 27080061
15. These results indicate that elastin neoepitopes generated by the same proteases but at different amino acid sites provide different tissue-related information depending on the disease in question. PMID: 23805173
16. Tropoelastin interacts with cells through cell surface receptors including integrins and glycosaminoglycans (GAGs); study mapped a cell-interactive sequence of tropoelastin to domain 17 and the first six amino acids of domain 18. PMID: 28544621
17. Tropoelastin acts through a PI3K-specific pathway that leads to the phosphorylation of eNOS to enhance nitric oxide production in endothelial cells. PMID: 27175893
18. Deficient circumferential growth is the predominant mechanism for moderate obstructive aortic disease resulting from partial elastin deficiency in Williams syndrome. PMID: 28254817
19. In this report we describe a three-generation family suffering from supravalvular aortic stenosis, various other arterial stenoses, sudden death, and intracranial aneurysms. A frameshift mutation in exon 12 of the elastin gene, not described before, was detected in the affected family members. PMID: 27866049
20. Data show that skin aging is associated with the decomposition of elastin fibers, which is more pronounced in sun-exposed tissue. PMID: 27569260
21. Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastin expression and elastogenesis in Schimke immuno-osseous dysplasia. PMID: 26309238
22. Neutrophil elastase degraded elastin fragments are increased in the serum of patients with idiopathic pulmonary fibrosis and lung cancer compared to controls. PMID: 25935650
23. Data suggest that MFAP4 (microfibrillar-associated protein 4) binds tropoelastin, fibrillin-1/2, and elastin cross-linking amino acid desmosine; MFAP4 co-localizes with fibrillin-1-positive fibers; MFAP4 actively promotes tropoelastin self-assembly. PMID: 26601954
24. In asthma, MMP-1 and MMP-2 mediate IL-13-induced suppression of ELN expression in airway fibroblasts. PMID: 26074138
25. Current knowledge about elastin peptides relevant to cardiovascular pathologies to further delineate their potential application in cardiovascular disease. [Review] PMID: 25794852
26. elastin may be important for plaque stability PMID: 25803692
27. Data suggest that cross-linking involving desmosine and isodesmosine residues in human tropoelastin and bovine elastin contributes to long-term stability of these proteins. PMID: 25604393
28. Studies indicate that the low sequence complexity, phase behavior, and elastic properties make elastin-like polypeptides (ELPs) an interesting intrinsically disordered proteins (IDP). PMID: 26325592
29. Supravalvular aortic aneurysms caused by a familial 7q11.23 triplication - including the ELN gene. PMID: 24932728
30. Up-regulation of elastin and fibulin-5 mRNA levels in ICA were strongly correlated with family history of cardiovascular disease when compared to CCA PMID: 25792650
31. there may be significantly different associations in genetic variants of elastin between two angiographic phenotypes of polypoidal choroidal vasculopathy (the significant association of rs868005 with Type 2, but not with Type 1) PMID: 25775011
32. Pathogenetic stimuli induced a significant increase in the expression of LOXL1 and elastic proteins and resulted in their assembly into exfoliation syndrome-like fibrils in vitro. PMID: 25275906
33. Collectively, these results suggest that dysregulation of LOXL1 expression is a contributing factor to exfoliation disease development. PMID: 25275910
34. the role of the Asp-72 site in stabilizing the N-terminal segment of human tropoelastin PMID: 25342751
35. Overall the results indicate that LTBP-2 may have a negative regulatory role during elastic fiber assembly, perhaps in displacing elastin microassemblies from complexes with fibulin-5 and/or cell surface heparan sulfate proteoglycans. PMID: 24148803
36. The decrease in age-adjusted circulating elastin levels is a potential indicator of eventual cardiovascular dysfunction in medical check-up individuals, as predicted by the risk factors dyslipidemia, hyperuricemia or diabetes. PMID: 23756406
37. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent. PMID: 24758204
38. Several extracellular matrix constituents, LOXs, FBN1, and FBLN5, implicated in the development of elastin, are overexpressed in the subepithelial connective tissue extracellular matrix of human pterygium PMID: 25183766
39. AAA-SMCs have a unique gene expression profile and a proelastolytic phenotype that is augmented by macrophages. PMID: 24080131
40. Discovery of retinal elastin and its possible role in age-related macular degeneration. PMID: 24232693
41. Construction and application of elastin like polypeptide containing IL-4 receptor targeting peptide. PMID: 24339977
42. Tropoelastin modulates TGF-beta1-induced expression of VEGF and CTGF in airway smooth muscle cells. PMID: 23597635
43. study indicates that the elastin gene may be associated with the formation of IAs, and importantly, that it may also be associated with the rupture of IAs. PMID: 23294012
44. the sequence of cross-linking domains has a dramatic effect on self-assembly properties of elastin-like polypeptides, and the presence of lysine residues in these domains may serve to prevent inappropriate ordered aggregation. PMID: 24550393
45. These data reveal a common alphaV integrin-binding theme for tropoelastin: alphaVbeta3 at the C terminus and alphaVbeta5 at the central region of tropoelastin. PMID: 24293364
46. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus. PMID: 23167938
47. Evaluation of these chimeras revealed two exosites contributing to the elastolytic activity of cathepsin V that are distant from the active cleft of the protease and are located in surface loop regions. PMID: 24121514
48. Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system. PMID: 24106871
49. Connective tissue growth factor leads to maximal elastin increase in human umbilical cord-derived mesenchymal stem cells after 7 days of chondroinduction and not in undifferentiated mesenchymal stem cells. PMID: 23542855
50. Single nucleotide polymorphisms in the IGF2, CCL2, and ELN genes may be associated to the degree and recovery time of non-contact soft tissue injuries. PMID: 23890452

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HGNC: 3327

OMIM: 123700

KEGG: hsa:2006

STRING: 9606.ENSP00000252034

UniGene: Hs.647061