Literature DB >> 7430706

A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.

P Marchase, K Holbrook, S R Pinnell.   

Abstract

A familial cutis laxa syndrome is reported in a mother and son. In addition, the son had Klippel-Tranaunay-Weber syndrome, which may be related to his underlying disorder. Ultrastructural examination of skin revealed previously recognized abnormalities of elastic tissue. In addition, abnormalities in collagen structure are demonstrated. The underlying defect in this disorder appears to result in abnormalities in both elastic tissue and collagen structure.

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Mesh：

Year:  1980        PMID： 7430706     DOI： 10.1111/1523-1747.ep12523655

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


  7 in total

1.  A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughter.

Authors:  M Tsukahara; H Shinkai; C Asagami; T Eguchi; T Kajii
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

2.  Collagen studies in congenital cutis laxa.

Authors:  A Taïeb; M Aumailley; D Courouge-Dorcier; M Rabaud; P Bioulac-Sage; J E Surlève-Bazeille; J Maleville
Journal:  Arch Dermatol Res       Date:  1987       Impact factor: 3.017

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

Authors:  Bert Callewaert; Marjolijn Renard; Vishwanathan Hucthagowder; Beate Albrecht; Ingrid Hausser; Edward Blair; Cristina Dias; Alice Albino; Hiroshi Wachi; Fumiaki Sato; Robert P Mecham; Bart Loeys; Paul J Coucke; Anne De Paepe; Zsolt Urban
Journal:  Hum Mutat       Date:  2011-03-01       Impact factor: 4.878

Review 4.  Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.

Authors:  E A Anum; L D Hill; A Pandya; J F Strauss
Journal:  Placenta       Date:  2009-01-18       Impact factor: 3.481

5.  Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain.

Authors:  M C Zhang; M Giro; D Quaglino; J M Davidson
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

6.  Dysregulated assembly of elastic fibers in fibulin-5 knockout mice results in a tendon-specific increase in elastic modulus.

Authors:  Jeremy D Eekhoff; Heiko Steenbock; Ian M Berke; Jürgen Brinckmann; Hiromi Yanagisawa; Jessica E Wagenseil; Spencer P Lake
Journal:  J Mech Behav Biomed Mater       Date:  2020-10-07

7.  Cutis Laxa syndrome: a case report.

Authors:  Mohamed Hbibi; Sana Abourazzak; Mounia Idrissi; Sana Chaouki; Samir Atmani; Moustapha Hida
Journal:  Pan Afr Med J       Date:  2015-01-05
  7 in total

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