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References

These sources were used to develop the Genetics Home Reference gene summary on the ELN gene.

Brooke BS, Bayes-Genis A, Li DY. New insights into elastin and vascular disease. Trends Cardiovasc Med. 2003 Jul;13(5):176-81. Review. PubMed citation
Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1. PubMed citation
Entrez Gene
Gene Review: Williams Syndrome
Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008 Apr 15;146A(8):977-83. PubMed citation
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. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000 Dec;8(12):955-63. PubMed citation
Milewicz DM, Urbán Z, Boyd C. Genetic disorders of the elastic fiber system. Matrix Biol. 2000 Nov;19(6):471-80. Review. PubMed citation
Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-84. Review. PubMed citation
Park S, Seo EJ, Yoo HW, Kim Y. Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. Int J Mol Med. 2006 Aug;18(2):329-32. PubMed citation
Rodriguez-Revenga L, Badenas C, Carrió A, Milà M. Elastin mutation screening in a group of patients affected by vascular abnormalities. Pediatr Cardiol. 2005 Nov-Dec;26(6):827-31. PubMed citation
Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrió A, Milà M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol. 2004 Sep;140(9):1135-9. Review. PubMed citation
Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006 Mar;43(3):255-8. Epub 2005 Aug 5. PubMed citation
Tassabehji M. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R229-37. Epub 2003 Sep 2. Review. PubMed citation
Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002 Jul;71(1):30-44. Epub 2002 May 6. PubMed citation
Urbán Z, Zhang J, Davis EC, Maeda GK, Kumar A, Stalker H, Belmont JW, Boyd CD, Wallace MR. Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene. Hum Genet. 2001 Nov;109(5):512-20. Epub 2001 Oct 13. PubMed citation


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