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Items: 1 to 20 of 129

1.

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.

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.

3.

[Cutis laxa. Classification, clinical aspects and molecular defects].

Mensing H, Krieg T, Meigel W, Braun-Falco O.

Hautarzt. 1984 Oct;35(10):506-11. German.

PMID:
6500933
4.

Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes.

Ghomrasseni S, Dridi M, Bonnefoix M, Septier D, Gogly G, Pellat B, Godeau G.

J Eur Acad Dermatol Venereol. 2001 Jul;15(4):305-11.

PMID:
11730039
5.

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.

6.

Abnormalities of fibrillin in acquired cutis laxa.

Lebwohl MG, Schwartz E, Jacobs L, Lebwohl M, Sakai L, Fleischmajer R.

J Am Acad Dermatol. 1994 Jun;30(6):950-4.

PMID:
8188885
7.

Cutis laxa in hereditary gelsolin amyloidosis.

Kiuru-Enari S, Keski-Oja J, Haltia M.

Br J Dermatol. 2005 Feb;152(2):250-7.

PMID:
15727635
8.

The complexity of elastic fiber biogenesis: the paradigm of cutis laxa.

Urban Z.

J Invest Dermatol. 2012 Nov 15;132(E1):E12-4. doi: 10.1038/skinbio.2012.4. Review. No abstract available.

9.

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.

10.

Elastic fibre abnormalities in skin disorders: what's new?

Uitto J.

J Eur Acad Dermatol Venereol. 2001 Jul;15(4):303-4. No abstract available.

PMID:
11730038
11.

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.

12.

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
13.

Elastic fibres in health and disease.

Baldwin AK, Simpson A, Steer R, Cain SA, Kielty CM.

Expert Rev Mol Med. 2013 Aug 20;15:e8. doi: 10.1017/erm.2013.9. Review.

PMID:
23962539
14.

Autosomal recessive cutis laxa syndrome revisited.

Morava E, Guillard M, Lefeber DJ, Wevers RA.

Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Review.

15.

Acquired cutis laxa type II (Marshall syndrome) in an 18-month-old child: a case report.

Haider M, Alfadley A, Kadry R, Almutawa A.

Pediatr Dermatol. 2010 Jan-Feb;27(1):89-91. doi: 10.1111/j.1525-1470.2009.01052.x.

PMID:
20199420
16.

[Late-onset cutis laxa (generalized elastolysis)].

Wilsch L, Schmid G, Haneke E.

Dtsch Med Wochenschr. 1977 Oct 14;102(41):1451-4. German.

PMID:
913278
17.

Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study.

Ledoux-Corbusier M.

J Cutan Pathol. 1983 Oct;10(5):340-9.

PMID:
6630666
18.

Generalized elastolysis (cutis laxa): case study illustrating associated medical and surgical conditions.

Polsen C, Netscher DT, Green L, Polsen J.

South Med J. 1995 Jul;88(7):753-8.

PMID:
7597482
19.

Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo.

Yanagisawa H, Davis EC, Starcher BC, Ouchi T, Yanagisawa M, Richardson JA, Olson EN.

Nature. 2002 Jan 10;415(6868):168-71.

PMID:
11805834
20.

Cutis Laxa.

Mohamed M, Voet M, Gardeitchik T, Morava E.

Adv Exp Med Biol. 2014;802:161-84. doi: 10.1007/978-94-007-7893-1_11. Review.

PMID:
24443027
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