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Items: 1 to 20 of 102

1.

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. 2012 Jun 22;287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9.

2.

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ.

Hum Mol Genet. 1998 Jun;7(6):1021-8.

PMID:
9580666
3.

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM.

J Biol Chem. 1999 Jan 8;274(2):981-6.

4.

Mechanisms of emphysema in autosomal dominant cutis laxa.

Hu Q, Shifren A, Sens C, Choi J, Szabo Z, Starcher BC, Knutsen RH, Shipley JM, Davis EC, Mecham RP, Urban Z.

Matrix Biol. 2010 Sep;29(7):621-8. doi: 10.1016/j.matbio.2010.06.005. Epub 2010 Jun 28.

5.

Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease.

Hirano E, Knutsen RH, Sugitani H, Ciliberto CH, Mecham RP.

Circ Res. 2007 Aug 31;101(5):523-31. Epub 2007 Jul 12.

6.

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrió A, Milà M.

Arch Dermatol. 2004 Sep;140(9):1135-9. Review.

PMID:
15381555
7.

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C.

Am J Med Genet A. 2008 Apr 15;146A(8):977-83. doi: 10.1002/ajmg.a.32242.

PMID:
18348261
8.

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene.

Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML.

Am J Hum Genet. 2003 Apr;72(4):998-1004. Epub 2003 Feb 28.

9.
10.

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

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.

Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1.

11.

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. 2006 Mar;43(3):255-8. Epub 2005 Aug 5.

12.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C.

Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.

13.

Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.

Igoucheva O, Alexeev V, Halabi CM, Adams SM, Stoilov I, Sasaki T, Arita M, Donahue A, Mecham RP, Birk DE, Chu ML.

J Biol Chem. 2015 Aug 28;290(35):21443-59. doi: 10.1074/jbc.M115.640425. Epub 2015 Jul 15.

14.

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.

Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z.

Hum Mol Genet. 2006 Dec 1;15(23):3379-86. Epub 2006 Oct 11.

PMID:
17035250
15.

Domains in tropoelastin that mediate elastin deposition in vitro and in vivo.

Kozel BA, Wachi H, Davis EC, Mecham RP.

J Biol Chem. 2003 May 16;278(20):18491-8. Epub 2003 Mar 6.

16.

Heterogeneity of elastin expression in cutis laxa fibroblast strains.

Sephel GC, Byers PH, Holbrook KA, Davidson JM.

J Invest Dermatol. 1989 Jul;93(1):147-53.

17.
18.

Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.

Hu Q, Reymond JL, Pinel N, Zabot MT, Urban Z.

J Invest Dermatol. 2006 Feb;126(2):283-90. Erratum in: J Invest Dermatol. 2006 Jun;126(6):1426.

19.

Elastin: relation of protein and gene structure to disease.

Rosenbloom J.

Lab Invest. 1984 Dec;51(6):605-23. Review.

PMID:
6150137
20.

The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.

Uitto J, Li Q, Urban Z.

Exp Dermatol. 2013 Feb;22(2):88-92. doi: 10.1111/exd.12025. Epub 2012 Oct 23.

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