| 1 | EFEMP2, EMILIN1, LOX, VGTAO
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| EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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| Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B.
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| Am J Hum Genet. Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. 2022
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| 2 | ATP6V0A2, CLAR1A, CLAR1B, CLAR2, EFEMP2, FBLN5
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| Autosomal recessive cutis laxa syndrome revisited.
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| Morava E, Guillard M, Lefeber DJ, Wevers RA.
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| Eur J Hum Genet 17(9):1099-110. Epub 2009 Apr 29. Review.PMID: 19401719 2009
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| 3 | CLAR1A, CLAR1B, EFEMP2, FBLN5
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| Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
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| Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A.
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| Clin Genet 76(3):276-81. Epub 2009 Aug 3.
2009
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| 4 | EFEMP2
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| Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts.
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| Chen Q, Zhang T, Roshetsky JF, Ouyang Z, Essers J, Fan C, Wang Q, Hinek A, Plow EF, Dicorleto PE.
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| Biochem J 423(1):79-89.PMID: 19627254 2009
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| 5 | EFEMP2, FBLN5
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| Differential regulation of elastic fiber formation by fibulin-4 and -5.
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| Choudhury R, McGovern A, Ridley C, Cain SA, Baldwin A, Wang MC, Guo C, Mironov A Jr, Drymoussi Z, Trump D, Shuttleworth A, Baldock C, Kielty CM.
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| J Biol Chem 284(36):24553-67. Epub 2009 Jul 1.PMID: 19570982 2009
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| 6 | EFEMP2, LOX
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| Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase.
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| Horiguchi M, Inoue T, Ohbayashi T, Hirai M, Noda K, Marmorstein LY, Yabe D, Takagi K, Akama TO, Kita T, Kimura T, Nakamura T.
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| Proc Natl Acad Sci U S A 106(45):19029-34. Epub 2009 Oct 23.PMID: 19855011 2009
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| 7 | EFEMP2
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| Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts.
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| Chen Q, Zhang T, Roshetsky JF, Ouyang Z, Essers J, Fan C, Wang Q, Hinek A, Plow EF, Dicorleto PE.
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| Biochem J. 423(1):79-89. 2009
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| 8 | CLAR1A, CLAR1B, EFEMP2, FBLN5, LOX
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| Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
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| Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE.
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| Am J Med Genet A 146A(21):2740-5.
2008
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| 9 | EFEMP2, CLAR1B
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| Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
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| Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML.
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| Am J Med Genet A 143(22):2635-41. 2007
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| 10 | EFEMP2, CLAR1B
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| Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
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| Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z.
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| Am J Hum Genet 78(6):1075-80. Epub 2006 Apr 10. 2006
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| 11 | EFEMP2
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| Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues.
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| Gallagher WM, Greene LM, Ryan MP, Sierra V, Berger A, Laurent-Puig P, Conseiller E.
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| FEBS Lett 489(1):59-66. 2001
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| 12 | EFEMP2
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| Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
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| Katsanis N, Venable S, Smith JR, Lupski JR.
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| Hum Genet 106:66-72 2000
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| 13 | EFEMP2
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| Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4.
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| Giltay R, Timpl R, Kostka G.
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| Matrix Biol 18(5):469-80. 1999
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| 14 | EFEMP2
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| MBP1: a novel mutant p53-specific protein partner with oncogenic properties.
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| Gallagher WM, Argentini M, Sierra V, Bracco L, Debussche L, Conseiller E.
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| Oncogene. 18(24):3608-16. 1999
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