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

Experimental Dermatology

Volumn 22, Issue 2, 2013, Pages 88-92

  Uitto, Jouni ^a   Li, Qiaoli ^a   Urban, Zsolt ^b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Cutis laxa; Elastic fibre assembly; Elastin; Heritable skin diseases; Microfibrillar proteins

Indexed keywords

ELASTIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; BLOOD VESSEL; CELL HETEROGENEITY; CUTIS LAXA; ELASTIC FIBER; GENE MUTATION; HUMAN; LUNG; MOLECULAR BIOLOGY; PHENOTYPE; PROTEIN METABOLISM; SIGNAL TRANSDUCTION; SKIN;

ARTERIES; CHROMOSOMES, HUMAN, X; CUTIS LAXA; ELASTIC TISSUE; ELASTIN; GENES, RECESSIVE; HUMANS; LUNG DISEASES; MICROFIBRILS; MITOCHONDRIA; MUTATION; PHENOTYPE; SKIN;

EID: 84873192028     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/exd.12025     Document Type: Article

References (74)

1. Christiano A M, Uitto J. J Invest Dermatol 1994: 103: 53S-57S.
2. Ramirez F. Matrix Biol 2000: 19: 455-456.
3. Wagenseil J E, Mecham R P. Birth Defects Res C Embryo Today 2007: 81: 229-240.
4. Pasquali-Ronchetti I, Baccarani-Contri M. Microsc Res Tech 1997: 38: 428-435.
5. Lewis K G, Bercovitch L, Dill S W et al. J Am Acad Dermatol 2004: 51: 1-21.
6. Lewis K G, Bercovitch L, Dill S W et al. J Am Acad Dermatol 2004: 51: 165-185.
7. Hirano E, Okamoto K, Matsubara Y et al. Arch Dermatol Res 2001: 293: 430-433.
8. Bernstein E F, Uitto J. Clin Dermatol 1996: 14: 143-151.
9. Fazio M J, Olsen D R, Kauh E A et al. J Invest Dermatol 1988: 91: 458-464.
10. Rosenbloom J, Bashir M, Yeh H et al. Ann N Y Acad Sci 1991: 624: 116-136.
11. Goldstein R A, Starcher B C. J Clin Invest 1978: 61: 1286-1290.
12. Viglio S, Annovazzi L, Luisetti M et al. J Sep Sci 2007: 30: 202-213.
13. Maki J M. Histol Histopathol 2009: 24: 651-660.
14. Fazio M J, Olsen D R, Kuivaniemi H et al. Lab Invest 1988: 58: 270-277.
15. Urban Z, Zhang J, Davis E C et al. Hum Genet 2001: 109: 512-520.
16. Piontkivska H, Zhang Y, Green E D et al. BMC Genomics 2004: 5: 31.
17. Szabo Z, Levi-Minzi S A, Christiano A M et al. J Mol Evol 1999: 49: 664-671.
18. Chen Z, Shin M H, Moon Y J et al. Exp Dermatol 2009: 18: 378-386.
19. Urban Z, Agapova O, Hucthagowder V et al. Invest Ophthalmol Vis Sci 2007: 48: 3209-3215.
20. Shapiro S D, Endicott S K, Province M A et al. J Clin Invest 1991: 87: 1828-1834.
21. Shapiro S D, Campbell E J, Welgus H G et al. Ann N Y Acad Sci 1991: 624: 69-80.
22. Reid P T, Sallenave J M. Curr Opin Investig Drugs 2001: 2: 59-67.
23. Hornebeck W, Emonard H. Front Biosci 2011: 16: 707-722.
24. Kielty C M, Wess T J, Haston L et al. J Muscle Res Cell Motil 2002: 23: 581-596.
25. Yanagisawa H, Davis E C. Int J Biochem Cell Biol 2010: 42: 1084-1093.
26. Craft C S, Broekelmann T J, Zou W et al. J Cell Biochem 2012: 113: 93-99.
27. Berk D R, Bentley D D, Bayliss S J et al. J Am Acad Dermatol 2012: 66: 842.e841-842.e817.
28. McCarty M J, Davidson J M, Cardone J S et al. Cutis 1996: 57: 267-270.
29. Timmer-De Mik L, Broekhuijsen-Van Henten D M, Oldhoff J M et al. Pediatr Dermatol 2009: 26: 358-360.
30. Callewaert B, Renard M, Hucthagowder V et al. Hum Mutat 2011: 32: 445-455.
31. Hu Q, Shifren A, Sens C et al. Matrix Biol 2010: 29: 621-628.
32. Urban Z, Michels V V, Thibodeau S N et al. Hum Genet 2000: 106: 577-588.
33. Wachi H, Sato F, Nakazawa J et al. Biochem J 2007: 402: 63-70.
34. Ewart A K, Morris C A, Atkinson D et al. Nat Genet 1993: 5: 11-16.
35. Dasouki M, Markova D, Garola R et al. Am J Med Genet A 2007: 143A: 2635-2641.
36. Hucthagowder V, Sausgruber N, Kim K H et al. Am J Hum Genet 2006: 78: 1075-1080.
37. Renard M, Holm T, Veith R et al. Eur J Hum Genet 2010: 18: 895-901.
38. Loeys B, Van Maldergem L, Mortier G et al. Hum Mol Genet 2002: 11: 2113-2118.
39. Urban Z, Hucthagowder V, Schurmann N et al. Am J Hum Genet 2009: 85: 593-605.
40. Nakamura T, Lozano P R, Ikeda Y et al. Nature 2002: 415: 171-175.
41. Yanagisawa H, Davis E C, Starcher B C et al. Nature 2002: 415: 168-171.
42. Ono R N, Sengle G, Charbonneau N L et al. J Biol Chem 2009: 284: 16872-16881.
43. Liu X, Zhao Y, Gao J et al. Nat Genet 2004: 36: 178-182.
44. Hirai M, Horiguchi M, Ohbayashi T et al. EMBO J 2007: 26: 3283-3295.
45. Hu Q, Loeys B L, Coucke P J et al. Hum Mol Genet 2006: 15: 3379-3386.
46. Horiguchi M, Inoue T, Ohbayashi T et al. Proc Natl Acad Sci U S A 2009: 106: 19029-19034.
47. Dabovic B, Chen Y, Choi J et al. J Cell Physiol 2009: 219: 14-22.
48. Isogai Z, Ono R N, Ushiro S et al. J Biol Chem 2003: 278: 2750-2757.
49. Kantola A K, Keski-Oja J, Koli K. Exp Cell Res 2008: 314: 2488-2500.
50. Czirok A, Zach J, Kozel B A et al. J Cell Physiol 2006: 207: 97-106.
51. Kozel B A, Rongish B J, Czirok A et al. J Cell Physiol 2006: 207: 87-96.
52. Morava E, Lefeber D J, Urban Z et al. Eur J Hum Genet 2008: 16: 28-35.
53. Kornak U, Reynders E, Dimopoulou A et al. Nat Genet 2008: 40: 32-34.
54. Hucthagowder V, Morava E, Kornak U et al. Hum Mol Genet 2009: 18: 2149-2165.
55. Guernsey D L, Jiang H, Evans S C et al. Am J Hum Genet 2009: 85: 120-129.
56. Reversade B, Escande-Beillard N, Dimopoulou A et al. Nat Genet 2009: 41: 1016-1021.
57. Bicknell L S, Pitt J, Aftimos S et al. Eur J Hum Genet 2008: 16: 1176-1186.
58. Skidmore D L, Chitayat D, Morgan T et al. Am J Med Genet A 2011: 155A: 1848-1856.
59. Hennies H C, Kornak U, Zhang H et al. Nat Genet 2008: 40: 1410-1412.
60. Kennerson M L, Nicholson G A, Kaler S G et al. Am J Hum Genet 2010: 86: 343-352.
61. Moller L B, Bukrinsky J T, Molgaard A et al. Hum Mutat 2005: 26: 84-93.
62. Byers P H, Siegel R C, Holbrook K A et al. N Engl J Med 1980: 303: 61-65.
63. Basel-Vanagaite L, Sarig O, Hershkovitz D et al. Am J Hum Genet 2009: 85: 254-263.
64. Syx D, Malfait F, Van Laer L et al. Hum Genet 2010: 128: 79-88.
65. Coucke P J, Willaert A, Wessels M W et al. Nat Genet 2006: 38: 452-457.
66. Lee Y C, Huang H Y, Chang C J et al. Hum Mol Genet 2010: 19: 3721-3733.
67. Vanakker O M, Martin L, Gheduzzi D et al. J Invest Dermatol 2007: 127: 581-587.
68. Li Q, Schurgers L J, Smith A C et al. Am J Pathol 2009: 174: 534-540.
69. Uitto J, Li Q, Jiang Q. J Invest Dermatol 2010: 130: 661-670.
70. Li Q, Grange D K, Armstrong N L et al. J Invest Dermatol 2009: 129: 553-563.
71. Willaert A, Khatri S, Callewaert B L et al. Hum Mol Genet 2012: 21: 1248-1259.
72. Mohamed M, Kouwenberg D, Gardeitchik T et al. J Inherit Metab Dis 2011: 34: 907-916.
73. Urban Z, Gao J, Pope F M et al. J Invest Dermatol 2005: 124: 1193-1199.
74. Bax D V, Rodgers U R, Bilek M M et al. J Biol Chem 2009: 284: 28616-28623.