Literature DB >> 23154626

Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa.

Leena Bruckner-Tuderman1, Cristina Has.   

Abstract

Mesh:

Year:  2012        PMID: 23154626     DOI: 10.1038/skinbio.2012.2

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


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  10 in total

1.  The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.

Authors:  Cristina Has; Dimitra Kiritsi; Jemima E Mellerio; Claus-Werner Franzke; Emma Wedgeworth; Iliana Tantcheva-Poor; Kristin Kernland-Lang; Peter Itin; Michael A Simpson; Patricia J Dopping-Hepenstal; Wataru Fujimoto; John A McGrath; Leena Bruckner-Tuderman
Journal:  J Invest Dermatol       Date:  2013-09-04       Impact factor: 8.551

2.  Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.

Authors:  Manuela Pigors; Agnes Schwieger-Briel; Juna Leppert; Dimitra Kiritsi; Jürgen Kohlhase; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Invest Dermatol       Date:  2013-09-04       Impact factor: 8.551

3.  [New developments in hereditary blistering skin diseases].

Authors:  L Bruckner-Tuderman
Journal:  Hautarzt       Date:  2013-01       Impact factor: 0.751

4.  Rare case of dysphagia, skin blistering, missing nails in a young boy.

Authors:  Jasbir Makker; Bharat Bajantri; Prospere Remy
Journal:  World J Gastrointest Endosc       Date:  2015-02-16

5.  Eye Involvement and Management in Inherited Epidermolysis Bullosa.

Authors:  Yasmine Bachir; Alejandra Daruich; Couanon Marie; Matthieu P Robert; Dominique Bremond-Gignac
Journal:  Drugs       Date:  2022-09-08       Impact factor: 11.431

6.  [The many facets of inherited skin fragility].

Authors:  C Has; D Kiritsi
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

7.  Transmembrane collagen XVII modulates integrin dependent keratinocyte migration via PI3K/Rac1 signaling.

Authors:  Stefanie Löffek; Tiina Hurskainen; Joanna Jackow; Florian Christoph Sigloch; Oliver Schilling; Kaisa Tasanen; Leena Bruckner-Tuderman; Claus-Werner Franzke
Journal:  PLoS One       Date:  2014-02-05       Impact factor: 3.240

8.  Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.

Authors:  Alexander Nyström; Jens Buttgereit; Michael Bader; Tatiana Shmidt; Cemil Ozcelik; Ingrid Hausser; Leena Bruckner-Tuderman; Johannes S Kern
Journal:  PLoS One       Date:  2013-05-23       Impact factor: 3.240

9.  Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.

Authors:  Thomas J Sproule; Jason A Bubier; Fiorella C Grandi; Victor Z Sun; Vivek M Philip; Caroline G McPhee; Elisabeth B Adkins; John P Sundberg; Derry C Roopenian
Journal:  PLoS Genet       Date:  2014-02-13       Impact factor: 5.917

10.  Gingival augmentation by combination of laser and Acellular Dermal Matrix allograft in a patient with dystrophic form of epidermolysis bullosa: A case report.

Authors:  Leila Gholami; Omid Taherpour
Journal:  Clin Case Rep       Date:  2018-06-25
  10 in total

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