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References

These sources were used to develop the Genetics Home Reference gene summary on the FBLN5 gene.

Entrez Gene
Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006 Dec 1;15(23):3379-86. Epub 2006 Oct 11. PubMed citation
Kobayashi N, Kostka G, Garbe JH, Keene DR, Bächinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, Sasaki T. A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. J Biol Chem. 2007 Apr 20;282(16):11805-16. Epub 2007 Feb 26. PubMed citation
Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002 Sep 1;11(18):2113-8. PubMed citation
Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, Nakamura T, Luff A, Griffiths H, Wang T, Bergen AA, Trump D. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat. 2006 Jun;27(6):568-74. PubMed citation
Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr;72(4):998-1004. Epub 2003 Feb 28. PubMed citation
Mullins RF, Olvera MA, Clark AF, Stone EM. Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. Exp Eye Res. 2007 Feb;84(2):378-80. Epub 2006 Nov 14. PubMed citation
Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher BC, Seyama Y. DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. Clin Biochem. 2009 May;42(7-8):713-21. doi: 10.1016/j.clinbiochem.2008.12.020. Epub 2009 Jan 8. PubMed citation
Stone EM, Braun TA, Russell SR, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med. 2004 Jul 22;351(4):346-53. PubMed citation
Wachi H, Nonaka R, Sato F, Shibata-Sato K, Ishida M, Iketani S, Maeda I, Okamoto K, Urban Z, Onoue S, Seyama Y. Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5. J Biochem. 2008 May;143(5):633-9. doi: 10.1093/jb/mvn014. Epub 2008 Feb 10. PubMed citation