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MeSH Review

Cutis Laxa

 
 
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Disease relevance of Cutis Laxa

 

High impact information on Cutis Laxa

 

Chemical compound and disease context of Cutis Laxa

 

Biological context of Cutis Laxa

 

Anatomical context of Cutis Laxa

 

Gene context of Cutis Laxa

 

Analytical, diagnostic and therapeutic context of Cutis Laxa

References

  1. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Loeys, B., Van Maldergem, L., Mortier, G., Coucke, P., Gerniers, S., Naeyaert, J.M., De Paepe, A. Hum. Mol. Genet. (2002) [Pubmed]
  2. Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. Urban, Z., Gao, J., Pope, F.M., Davis, E.C. J. Invest. Dermatol. (2005) [Pubmed]
  3. Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. Hwang, S.T., Williams, M.L., McCalmont, T.H., Frieden, I.J. Archives of dermatology. (1995) [Pubmed]
  4. Provisional new syndrome of MR/MCA with evolving phenotype. Lacassie, Y., Morava, E., LaMotta, I. Am. J. Med. Genet. (2002) [Pubmed]
  5. Post-inflammatory elastolysis and cutis laxa. Verhagen, A.R., Woerdeman, M.J. Br. J. Dermatol. (1975) [Pubmed]
  6. Are X-linked cutis laxa and Menkes disease allelic? Levinson, B., Gitschier, J., Vulpe, C., Whitney, S., Yang, S., Packman, S. Nat. Genet. (1993) [Pubmed]
  7. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. Byers, P.H., Siegel, R.C., Holbrook, K.A., Narayanan, A.S., Bornstein, P., Hall, J.G. N. Engl. J. Med. (1980) [Pubmed]
  8. Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. Yanagisawa, H., Davis, E.C., Starcher, B.C., Ouchi, T., Yanagisawa, M., Richardson, J.A., Olson, E.N. Nature (2002) [Pubmed]
  9. Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. Zhang, M.C., Giro, M., Quaglino, D., Davidson, J.M. J. Clin. Invest. (1995) [Pubmed]
  10. Congenital cutis laxa and maternal D-penicillamine. Walshe, J.M. Lancet (1979) [Pubmed]
  11. Cutis laxa and low serum zinc after antenatal exposure to penicillamine. Harpey, J.P., Jaudon, M.C., Clavel, J.P., Galli, A., Darbois, Y. Lancet (1983) [Pubmed]
  12. Acquired cutis laxa: case report and review of disorders of elastolysis. Koch, S.E., Williams, M.L. Pediatric dermatology. (1985) [Pubmed]
  13. 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, M.L. Am. J. Hum. Genet. (2003) [Pubmed]
  14. 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, D.R., Fazio, M.J., Shamban, A.T., Rosenbloom, J., Uitto, J. J. Biol. Chem. (1988) [Pubmed]
  15. Defective protein glycosylation in patients with cutis laxa syndrome. Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grünewald, S. Eur. J. Hum. Genet. (2005) [Pubmed]
  16. Williams syndrome and related disorders. Morris, C.A., Mervis, C.B. Annual review of genomics and human genetics. (2000) [Pubmed]
  17. Regulation of elastin synthesis in pathological states. Davidson, J.M., Zang, M.C., Zoia, O., Giro, M.G. Ciba Found. Symp. (1995) [Pubmed]
  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, J.L., Pinel, N., Zabot, M.T., Urban, Z. J. Invest. Dermatol. (2006) [Pubmed]
  19. Infant with severe penicillamine embryopathy born to a woman with Wilson disease. Pinter, R., Hogge, W.A., McPherson, E. Am. J. Med. Genet. A (2004) [Pubmed]
  20. Abnormalities of fibrillin in acquired cutis laxa. Lebwohl, M.G., Schwartz, E., Jacobs, L., Lebwohl, M., Sakai, L., Fleischmajer, R. J. Am. Acad. Dermatol. (1994) [Pubmed]
  21. Cutis laxa and the Costello syndrome. Patton, M.A., Baraitser, M. J. Med. Genet. (1993) [Pubmed]
  22. Costello syndrome: natural history and differential diagnosis of cutis laxa. Davies, S.J., Hughes, H.E. J. Med. Genet. (1994) [Pubmed]
 
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