| 1 | ELN
|
| Elastin insufficiency causes hypertension, structural defects and abnormal remodeling of renal vascular signaling.
|
| Owens EA, Jie L, Reyes BAS, Van Bockstaele EJ, Osei-Owusu P.
|
| Kidney Int idney Int. 2017 Jul 26. pii: S0085-2538(17)30352-6. doi: 10.1016/j.kint.2017.04.044. [Epub ahead of print]
2017
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| 2 | ADCL1, ELN
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| A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.
|
| Duz MB, Kirat E, Coucke PJ, Koparir E, Gezdirici A, Paepe A, Callewaert B, Seven M.
|
| Clin Dysmorphol 26(3):142-147. doi: 10.1097/MCD.0000000000000179.
2017
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| 3 | ELN, SVAS
|
| Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
|
| Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB.
|
| Eur J Med Genet 60(2):110-113. doi: 10.1016/j.ejmg.2016.11.004. Epub 2016 Nov 16.
2017
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| 4 | ELN
|
| Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach.
|
| Paterakis K, Koutsias S, Doxani C, Xanthopoulou P, Kokkali C, Mpoulimari I, Tziastoudi M, Karampelas I, Dardiotis E, Hadjigeorgiou G, Brotis AG, Zintzaras E.
|
| Int J Neurosci 127(7):567-572. doi: 10.1080/00207454.2016.1212027. Epub 2016 Aug 14.
2017
|
| 5 | ELN, WBS
|
| Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.
|
| Li L, Huang L, Luo Y, Huang X, Lin S, Fang Q.
|
| Mol Syndromol 6(6):268-75. doi: 10.1159/000443942. Epub 2016 Feb 2.
2016
|
| 6 | ELN
|
| A negatively charged residue stabilizes the tropoelastin N-terminal region for elastic fiber assembly.
|
| Yeo GC, Baldock C, Wise SG, Weiss AS.
|
| J Biol Chem 289(50):34815-26. doi: 10.1074/jbc.M114.606772. Epub 2014 Oct 23.
2014
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| 7 | ELN
|
| A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
|
| Siefring ML, Lawrence EC, Nguyen TC, Lu D, Pham G, Lorenchick C, Levine KL, Urban Z.
|
| Pediatr Dermatol 31(3):347-9. doi: 10.1111/pde.12334.
2014
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| 8 | ELN
|
| Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency.
|
| Osei-Owusu P, Knutsen RH, Kozel BA, Dietrich HH, Blumer KJ, Mecham RP.
|
| Am J Physiol Heart Circ Physiol 306(5):H654-66. doi: 10.1152/ajpheart.00601.2013. Epub 2014 Jan 10.
2014
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| 9 | ELN, FKBP10
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| Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.
|
| Miao M, Reichheld SE, Muiznieks LD, Huang Y, Keeley FW.
|
| Biochemistry 52(44):7731-41. doi: 10.1021/bi400760f. Epub 2013 Oct 24.
2013
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| 10 | ELN
|
| Tropoelastin modulates TGF-β1-induced expression of VEGF and CTGF in airway smooth muscle cells.
|
| Reddel CJ, Cultrone D, Rnjak-Kovacina J, Weiss AS, Burgess JK.
|
| Matrix Biol 32(7-8):407-13. doi: 10.1016/j.matbio.2013.04.003. Epub 2013 Apr 15.
2013
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| 11 | ELN, WBS
|
| Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
|
| Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M.
|
| Am J Med Genet A 161A(3):527-33. doi: 10.1002/ajmg.a.35784. Epub 2013 Feb 7.
2013
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| 12 | ADCL1, ELN
|
| Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
|
| Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP.
|
| J Biol Chem 287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9. 2012
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| 13 | ELN
|
| Poly(A) tail shortening correlates with mRNA repression in tropoelastin regulation.
|
| Hagmeister U, Reuschlein K, März A, Wenck H, Gallinat S, Lucius R, Knott A.
|
| J Dermatol Sci 67(1):44-50. doi: 10.1016/j.jdermsci.2012.03.001. Epub 2012 Mar 14.
2012
|
| 14 | ELN
|
| Tropoelastin bridge region positions the cell-interactive C terminus and contributes to elastic fiber assembly.
|
| Yeo GC, Baldock C, Tuukkanen A, Roessle M, Dyksterhuis LB, Wise SG, Matthews J, Mithieux SM, Weiss AS.
|
| Proc Natl Acad Sci U S A 109(8):2878-83. doi: 10.1073/pnas.1111615108. Epub 2012 Feb 10.
2012
|
| 15 | ELN
|
| Association of elastin gene polymorphism to age-related macular degeneration and polypoidal choroidal vasculopathy.
|
| Yamashiro K, Mori K, Nakata I, Tsuchihashi T, Horie-Inoue K, Nakanishi H, Tsujikawa A, Saito M, Iida T, Yamada R, Matsuda F, Inoue S, Awata T, Yoneya S, Yoshimura N.
|
| Invest Ophthalmol Vis Sci 52(12):8780-4. doi: 10.1167/iovs.11-8205.
2011
|
| 16 | ELN
|
| Elastin degradation and vascular smooth muscle cell phenotype change precede cell loss and arterial medial calcification in a uremic mouse model of chronic kidney disease.
|
| Pai A, Leaf EM, El-Abbadi M, Giachelli CM.
|
| Am J Pathol 178(2):764-73. doi: 10.1016/j.ajpath.2010.10.006.
2011
|
| 17 | ELN, WBS
|
| Pulmonary function and emphysema in Williams-Beuren syndrome.
|
| Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK.
|
| Am J Med Genet A 152A(3):653-6.PMID: 20186780 2010
|
| 18 | DUP7Q11, ELN, GTF2I, GTF2IRD1, LIMK1, RFC2, TRIM50, WBS
|
| A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
|
| Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA.
|
| J Med Genet 47(4):271-5. Epub 2009 Sep 14.PMID: 19752158 2010
|
| 19 | ELN, SVAS
|
| Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
|
| Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G.
|
| Eur J Hum Genet 18(3):317-23. Epub 2009 Oct 21.PMID: 19844261 2010
|
| 20 | ELN
|
| The importance of elastin to aortic development in mice.
|
| Wagenseil JE, Ciliberto CH, Knutsen RH, Levy MA, Kovacs A, Mecham RP.
|
| Am J Physiol Heart Circ Physiol 299(2):H257-64. Epub 2010 May 21.PMID: 20495146 2010
|
| 21 | ELN
|
| Effect of aging on elastin functionality in human cerebral arteries.
|
| Fonck E, Feigl GG, Fasel J, Sage D, Unser M, Rüfenacht DA, Stergiopulos N.
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| Stroke 40(7):2552-6. Epub 2009 May 28.PMID: 19478233 2009
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| 22 | ELN
|
| Reduced vessel elasticity alters cardiovascular structure and function in newborn mice.
|
| Wagenseil JE, Ciliberto CH, Knutsen RH, Levy MA, Kovacs A, Mecham RP.
|
| Circ Res 104(10):1217-24. Epub 2009 Apr 16.PMID: 19372465 2009
|
| 23 | ELN
|
| Elastin expression in very severe human COPD.
|
| Deslee G, Woods JC, Moore CM, Liu L, Conradi SH, Milne M, Gierada DS, Pierce J, Patterson A, Lewit RA, Battaile JT, Holtzman MJ, Hogg JC, Pierce RA.
|
| Eur Respir J 34(2):324-31. Epub 2009 Apr 8.PMID: 19357152 2009
|
| 24 | ELN
|
| 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.
|
| Mégarbané H, Florence J, Sass JO, Schwonbeck S, Foglio M, de Cid R, Cure S, Saker S, Mégarbané A, Fischer J.
|
| J Invest Dermatol 129(7):1650-5. Epub 2009 Feb 5.PMID: 19194475 2009
|
| 25 | ELN, FBLN5
|
| DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner.
|
| Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher BC, Seyama Y.
|
| Clin Biochem 42(7-8):713-21. Epub 2009 Jan 8.PMID: 19167375 2009
|
| 26 | ELN, FBLN5
|
| Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5.
|
| Wachi H, Nonaka R, Sato F, Shibata-Sato K, Ishida M, Iketani S, Maeda I, Okamoto K, Urban Z, Onoue S, Seyama Y.
|
| J Biochem 143(5):633-9. Epub 2008 Feb 10.PMID: 18267938 2008
|
| 27 | ELN
|
| Modification and functional inactivation of the tropoelastin carboxy-terminal domain in cross-linked elastin.
|
| Broekelmann TJ, Ciliberto CH, Shifren A, Mecham RP.
|
| Matrix Biol 27(7):631-9. Epub 2008 Jun 17.PMID: 18602002 2008
|
| 28 | ELN
|
| Interaction between human cathepsins K, L, and S and elastins: mechanism of elastinolysis and inhibition by macromolecular inhibitors.
|
| Novinec M, Grass RN, Stark WJ, Turk V, Baici A, Lenarcic B.
|
| J Biol Chem 282(11):7893-902. Epub 2007 Jan 16. 2007
|
| 29 | ELN, PAX5
|
| A novel PAX5-ELN fusion protein identified in B-cell acute lymphoblastic leukemia acts as a dominant negative on wild-type PAX5.
|
| Bousquet M, Broccardo C, Quelen C, Meggetto F, Kuhlein E, Delsol G, Dastugue N, Brousset P.
|
| Blood 109(8):3417-23. Epub 2006 Dec 19.
2007
|
| 30 | ELN
|
| Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.
|
| Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z.
|
| J Med Genet 43(3):255-8. Epub 2005 Aug 5. 2006
|
| 31 | LIMK1, ELN
|
| A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms.
|
| Akagawa H, Tajima A, Sakamoto Y, Krischek B, Yoneyama T, Kasuya H, Onda H, Hori T, Kubota M, Machida T, Saeki N, Hata A, Hashiguchi K, Kimura E, Kim CJ, Yang TK, Lee JY, Kimm K, Inoue I.
|
| Hum Mol Genet 15(10):1722-34. Epub 2006 Apr 12. 2006
|
| 32 | ELN
|
| Positive transcriptional regulatory element located within exon 1 of elastin gene.
|
| Pierce RA, Moore CH, Arikan MC.
|
| Am J Physiol Lung Cell Mol Physiol 291(3):L391-9. 2006
|
| 33 | ELN, SVAS
|
| Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.
|
| Park S, Seo EJ, Yoo HW, Kim Y.
|
| Int J Mol Med 18(2):329-32. 2006
|
| 34 | CTSG, ELA2, ELANE, ELN, PRTN3
|
| Human leukocyte elastase hydrolysis of peptides derived from human elastin exon 24.
|
| Lombard C, Arzel L, Bouchu D, Wallach J, Saulnier J.
|
| Biochimie 88(12):1915-21. Epub 2006 Aug 10. 2006
|
| 35 | ELN
|
| A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.
|
| Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrio A, Mila M.
|
| Arch Dermatol 140(9):1135-9. Review. 2004
|
| 36 | ELN, WBS
|
| Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
|
| Tassabehji M.
|
| Hum Mol Genet 12 Suppl 2:R229-37. Epub 2003 Sep 02. 2003
|
| 37 | ELN
|
| Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.
|
| Urban Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A.
|
| Am J Hum Genet 71(1):30-44. 2002
|
| 38 | ELN
|
| Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
|
| Urban Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD, Wallace MR.
|
| Hum Genet 109(5):512-20. 2001
|
| 39 | ELN, SVAS
|
| Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
|
| Urban Z, Michels VV, Thibodeau SN, Davis EC, Bonnefont JP, Munnich A, Eyskens B, Gewillig M, Devriendt K, Boyd CD.
|
| Hum Genet 106(6):577-88. 2000
|
| 40 | ELN
|
| Elastin: mutational spectrum in supravalvular aortic stenosis.
|
| Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M.
|
| Eur J Hum Genet 8(12):955-63. 2000
|
| 41 | ELN
|
| Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).
|
| Zhang MC, et al.
|
| J Biol Chem 274(2):981-6. 1999
|
| 42 | ELN, SVAS
|
| Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.
|
| Urban Z, et al.
|
| Hum Genet 104(2):135-42. 1999
|
| 43 | ELN, SVAS
|
| A new mutation in the elastin gene causing supravalvular aortic stenosis.
|
| Boeckel T, et al.
|
| Am J Cardiol 83(7):1141-3, A9-10. 1999
|
| 44 | ELN
|
| An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis lasa.
|
| Tassabehji M, et al.
|
| Hum Mol Genet 7 : 1021-1028. 1998
|
| 45 | ELN
|
| Novel arterial pathology in mice and humans hemizygous for elastin.
|
| Li DY, et al.
|
| J Clin Invest 102 : 1783-1787. 1998
|
| 46 | ELN, SVAS
|
| Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
|
| Fryssira H, et al.
|
| J Med Genet 34 : 306-308. 1997
|
| 47 | ELN
|
| A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1).
|
| Urban Z, et al.
|
| Clin Genet 51 : 133-134. 1997
|
| 48 | ELN, SVAS
|
| Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
|
| Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT.
|
| Hum Mol Genet 6(7):1021-8. 1997
|
| 49 | ELN
|
| Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
|
| Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP.
|
| Hum Mol Genet 6(7):1029-36. 1997
|
| 50 | ELN
|
| Cutis laxa arising from a frame shift mutation in the elastin gene (ELN). (abstr)
|
| Zhang MC, et al.
|
| Am J Hum Genet 61 : A353. 1997
|
| 51 | ELN, HIP1
|
| Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23.
|
| Wedemeyer N, Peoples R, Himmelbauer H, Lehrach H, Francke U, Wanker EE.
|
| Genomics 46(2):313-5. 1997
|
| 52 | ELN, LIMK1, WBS
|
| LIM-kinase deleted in Williams syndrome.
|
| Tassabehji M, et al.
|
| Nat Genet 13 : 272-274. 1996
|
| 53 | CLIP2, EIF4H, ELN, GTF2IRD1, LAT2, LIMK1, RFC2, WBS, WBS, WBSCR2
|
| Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
|
| Osborne LR, et al.
|
| Genomics 36 : 328-336. 1996
|
| 54 | ELN, WBS
|
| Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
|
| Dutly F, et al.
|
| Hum Mol Genet 5 : 1893-1898. 1996
|
| 55 | ELN, WBS
|
| Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
|
| Mari A, et al.
|
| Hum Genet 96 : 444-448. 1995
|
| 56 | ELN
|
| Molelcular variation of the human elastin (ELN) gene in a normal human population.
|
| Raybould MC, et al.
|
| Ann Hum Genet 59 : 149-161. 1995
|
| 57 | ELN, WBS
|
| Deletions of the elastin gene at 7q11.23 occur in~90% of patients with Williams syndrome.
|
| Nickerson E, et al.
|
| Am J Hum Genet 56 : 1156-1161. 1995
|
| 58 | ELN, WBS
|
| Strong correlation of elastin deletions, detected by FISH, with Williams syndrome : evaluation of 235 patients.
|
| Lowery MC, et al.
|
| Am J Hum Genet 57 : 49-53. 1995
|
| 59 | ELN, WBS
|
| Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
|
| Kotzot D, et al.
|
| Eur J Pediatr 154 : 477-482. 1995
|
| 60 | ELN, WBS
|
| A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
|
| Olson TM, et al.
|
| Hum Mol Genet 4 : 1677-1679. 1995
|
| 61 | ELN, WBS
|
| Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.
|
| Ewart AK, et al.
|
| J Clin Invest 93 : 1071-1077. 1994
|
| 62 | ELN
|
| Two new polymorphisms in the human elastin gene (ELN).
|
| Raybould MC, et al.
|
| Hum Genet 93 : 475-476. 1994
|
| 63 | ELN
|
| A Bgl I polymorphism in the human elastin gene (ELN).
|
| Raybould MC, et al.
|
| Clin Genet 46 : 212-213. 1994
|
| 64 | SVAS, ELN
|
| Hemizygosity at the elastin locus and clinical features of Williams syndrome. (abstr)
|
| Morimoto Y, et al.
|
| Am J Hum Genet 55 : A362. 1994
|
| 65 | ELN, WBS
|
| The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.
|
| Curran ME, et al.
|
| Cell 73 : 159-168. 1993
|
| 66 | ELN, WBS
|
| Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
|
| Ewart AK, et al.
|
| Nat Genet 5 : 11-16. 1993
|
| 67 | ELN
|
| A Hinf I polymorphism in the human elastin gene (ELN).
|
| Raybould MC, et al.
|
| Nucleic Acids Res 20 : 1168. 1992
|
| 68 | ELN
|
| A to G polymorphism in ELN gene.
|
| Tromp G, et al.
|
| Nucleic Acids Res 19 : 4314. 1991
|
| 69 | ELN
|
| Human elastin gene : new evidence for localization to the long arm of chromosome 7.
|
| Fazio MJ, et al.
|
| Am J Hum Genet 48 : 696-703. 1991
|
| 70 | ELN
|
| Two polymorphisms for the human elastin gene.
|
| Kainulainen K, et al.
|
| Nucleic Acids Res 18 : 3114. 1990
|
| 71 | ELN
|
| RFLP-markers of elastin gene and linkage analyses between this gene and other chromosomal markers on 2q.
|
| Palotie A, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1057-1058. 1989
|
| 72 | ELN
|
| Cutis laxa : reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide.
|
| Olsen DR, Fazio MJ, Shamban AT, Rosenbloom J, Uitto J.
|
| J Biol Chem 263 : 6465-6467. 1988
|
| 73 | ELN
|
| Chromosomal localization of the human elastin gene.
|
| Emanuel BS, et al.
|
| Am J Hum Genet 37 : 873-882. 1985
|