Literature DB >> 19401717

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

Uwe Kornak1.   

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Year:  2009        PMID： 19401717      PMCID： PMC2986594          DOI： 10.1038/ejhg.2009.59

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  11 in total

1.  Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder.

Authors:  J Zlotogora
Journal:  Am J Med Genet       Date:  1999-07-16

Review 2.  Mitochondria, oxidants, and aging.

Authors:  Robert S Balaban; Shino Nemoto; Toren Finkel
Journal:  Cell       Date:  2005-02-25       Impact factor: 41.582

Review 3.  Rapid increase in human life expectancy: will it soon be limited by the aging of elastin?

Authors:  L Robert; A M Robert; T Fülöp
Journal:  Biogerontology       Date:  2008-01-04       Impact factor: 4.277

4.  Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.

Authors:  L Van Maldergem; M Yuksel-Apak; H Kayserili; E Seemanova; S Giurgea; L Basel-Vanagaite; E Leao-Teles; J Vigneron; M Foulon; M Greally; J Jaeken; S Mundlos; W B Dobyns
Journal:  Neurology       Date:  2008-08-20       Impact factor: 9.910

Review 5.  Genetic modulation of senescent phenotypes in Homo sapiens.

Authors:  George M Martin
Journal:  Cell       Date:  2005-02-25       Impact factor: 41.582

6.  Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

Authors:  L I Al-Gazali; L Sztriha; F Skaff; D Haas
Journal:  Am J Med Genet       Date:  2001-07-01

7.  Photo-enhanced modification of human skin elastin in actinic elastosis by N(epsilon)-(carboxymethyl)lysine, one of the glycoxidation products of the Maillard reaction.

Authors:  K Mizutari; T Ono; K Ikeda; K Kayashima; S Horiuchi
Journal:  J Invest Dermatol       Date:  1997-05       Impact factor: 8.551

8.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

Review 9.  Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.

Authors:  Arti Nanda; Qasem A Alsaleh; Humoud Al-Sabah; Emad E Marzouk; Amr M A Salam; Mousumee Nanda; Jehoram T Anim
Journal:  Pediatr Dermatol       Date:  2008 Jan-Feb       Impact factor: 1.588

Review 10.  Elastic fibres in health and disease.

Authors:  Cay M Kielty
Journal:  Expert Rev Mol Med       Date:  2006-08-08       Impact factor: 5.600
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  2 in total

1.  Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

Authors:  Rita Kretz; Bita Bozorgmehr; Mohamad Hasan Kariminejad; Marianne Rohrbach; Ingrid Hausser; Alessandra Baumer; Matthias Baumgartner; Cecilia Giunta; Ariana Kariminejad; Johannes Häberle
Journal:  J Inherit Metab Dis       Date:  2011-04-13       Impact factor: 4.982

2.  Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells.

Authors:  Miyako Udono; Kaoru Fujii; Gakuro Harada; Yumi Tsuzuki; Keishi Kadooka; Pingbo Zhang; Hiroshi Fujii; Maho Amano; Shin-Ichiro Nishimura; Kosuke Tashiro; Satoru Kuhara; Yoshinori Katakura
Journal:  Sci Rep       Date:  2015-11-27       Impact factor: 4.379
  2 in total

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