Literature DB >> 11708948

Molecular genetics of heritable blistering disorders.

J Uitto1, L Pulkkinen.   

Abstract

Over the past decade, there has been tremendous progress in understanding the genetic basis of different forms of genodermatoses. Specifically, with the advent of technologies in molecular biology in general, an increasingly large number of gene defects have been identified in different genodermatoses, and mutations are now known to occur in more than 100 distinct genes in such a manner that the genetic lesions explain the spectrum of phenotypic manifestations encountered in these diseases.

Mesh:

Year:  2001        PMID: 11708948     DOI: 10.1001/archderm.137.11.1458

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


  11 in total

1.  Tissue-engineered skin: bottleneck or breakthrough.

Authors:  Sha Huang; Xiaobing Fu
Journal:  Int J Burns Trauma       Date:  2011-08-25

Review 2.  The corneal epithelial basement membrane: structure, function, and disease.

Authors:  André A M Torricelli; Vivek Singh; Marcony R Santhiago; Steven E Wilson
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-27       Impact factor: 4.799

3.  Remodeling of the dermal-epidermal junction in bilayered skin constructs after silencing the expression of the p.R2622Q and p.G2623C collagen VII mutants.

Authors:  Andrzej Steplewski; Anthony Kasinskas; Andrzej Fertala
Journal:  Connect Tissue Res       Date:  2012-04-10       Impact factor: 3.417

4.  Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy.

Authors:  Stefano Frattini; Michele Polli; Matteo Cortellari; Alessio Negro; Arianna Bionda; Jacopo Riva; Rita Rizzi; Stefano Marelli; Paola Crepaldi
Journal:  Vet Rec Open       Date:  2021-08-19

5.  Diagnostic pitfalls in newborns and babies with blisters and erosions.

Authors:  Elke Nischler; Alfred Klausegger; Clemens Hüttner; Gabriele Pohla-Gubo; Anja Diem; Johann W Bauer; Helmut Hintner
Journal:  Dermatol Res Pract       Date:  2010-01-20

6.  Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.

Authors:  Kei Ito; Daisuke Sawamura; Maki Goto; Hideki Nakamura; Wataru Nishie; Kaori Sakai; Ken Natsuga; Satoru Shinkuma; Akihiko Shibaki; Jouni Uitto; Christopher P Denton; Osamu Nakajima; Masashi Akiyama; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2009-11-05       Impact factor: 4.307

7.  Dual Role of alpha6beta4 integrin in epidermal tumor growth: tumor-suppressive versus tumor-promoting function.

Authors:  Karine Raymond; Maaike Kreft; Ji-Ying Song; Hans Janssen; Arnoud Sonnenberg
Journal:  Mol Biol Cell       Date:  2007-08-15       Impact factor: 4.138

8.  Coupling between apical tension and basal adhesion allow epithelia to collectively sense and respond to substrate topography over long distances.

Authors:  Kyle E Broaders; Alec E Cerchiari; Zev J Gartner
Journal:  Integr Biol (Camb)       Date:  2015-10-28       Impact factor: 2.192

9.  Kidney failure in mice lacking the tetraspanin CD151.

Authors:  Norman Sachs; Maaike Kreft; Marius A van den Bergh Weerman; Andy J Beynon; Theo A Peters; Jan J Weening; Arnoud Sonnenberg
Journal:  J Cell Biol       Date:  2006-10-02       Impact factor: 10.539

10.  PKD2 and RSK1 Regulate Integrin β4 Phosphorylation at Threonine 1736.

Authors:  Lisa Te Molder; Arnoud Sonnenberg
Journal:  PLoS One       Date:  2015-11-18       Impact factor: 3.240

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