Literature DB >> 23263713

[New developments in hereditary blistering skin diseases].

L Bruckner-Tuderman1.   

Abstract

Hereditary blistering skin diseases were described more than hundred years ago, but only the rapid scientific developments in molecular genetics in the last years have revealed the full spectrum of these diseases, delineated disease mechanisms and pointed to novel therapeutic strategies. Not only the classic forms of epidermolysis bullosa, but also new syndromic forms with multiorgan involvement, or skin fragility disorders that manifest with erosive, crusty lesions and pigment anomalies, instead of marked skin blistering belong to the group of hereditary blistering diseases. Understanding the biological functions of skin structures that provide intraepidermal and dermo-epidermal adhesion has furthered development of novel cell- and molecule-based therapies that are currently being tested in preclinical and clinical pilot trial settings.

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Mesh:

Year:  2013        PMID: 23263713     DOI: 10.1007/s00105-012-2406-z

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  26 in total

Review 1.  Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Authors:  Cristina Has; Daniele Castiglia; Marcela del Rio; Marta Garcia Diez; Eugenia Piccinni; Dimitra Kiritsi; Jürgen Kohlhase; Peter Itin; Ludovic Martin; Judith Fischer; Giovanna Zambruno; Leena Bruckner-Tuderman
Journal:  Hum Mutat       Date:  2011-09-20       Impact factor: 4.878

2.  Comparative quantitation of proteome alterations induced by aging or immortalization in primary human fibroblasts and keratinocytes for clinical applications.

Authors:  Adrian Sprenger; Victoria Küttner; Martin L Biniossek; Christine Gretzmeier; Melanie Boerries; Claudia Mack; Cristina Has; Leena Bruckner-Tuderman; Jörn Dengjel
Journal:  Mol Biosyst       Date:  2010-05-10

3.  Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity.

Authors:  Johannes S Kern; Stefan Loeckermann; Anja Fritsch; Ingrid Hausser; Wera Roth; Thomas M Magin; Claudia Mack; Marcel L Müller; Oliver Paul; Patrick Ruther; Leena Bruckner-Tuderman
Journal:  Mol Ther       Date:  2009-06-30       Impact factor: 11.454

Review 4.  Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges.

Authors:  R J Desnick; E H Schuchman
Journal:  Annu Rev Genomics Hum Genet       Date:  2012       Impact factor: 8.929

5.  Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

Authors:  John E Wagner; Akemi Ishida-Yamamoto; John A McGrath; Maria Hordinsky; Douglas R Keene; David T Woodley; Mei Chen; Megan J Riddle; Mark J Osborn; Troy Lund; Michelle Dolan; Bruce R Blazar; Jakub Tolar
Journal:  N Engl J Med       Date:  2010-08-12       Impact factor: 91.245

6.  Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

Authors:  Manuela Pigors; Dimitra Kiritsi; Sebastian Krümpelmann; Nicola Wagner; Yinghong He; Maurizio Podda; Jürgen Kohlhase; Ingrid Hausser; Leena Bruckner-Tuderman; Cristina Has
Journal:  Hum Mol Genet       Date:  2011-02-14       Impact factor: 6.150

7.  Integrin α3 mutations with kidney, lung, and skin disease.

Authors:  Cristina Has; Giuseppina Spartà; Dimitra Kiritsi; Lisa Weibel; Alexander Moeller; Virginia Vega-Warner; Aoife Waters; Yinghong He; Yair Anikster; Philipp Esser; Beate K Straub; Ingrid Hausser; Detlef Bockenhauer; Benjamin Dekel; Friedhelm Hildebrandt; Leena Bruckner-Tuderman; Guido F Laube
Journal:  N Engl J Med       Date:  2012-04-19       Impact factor: 91.245

8.  Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

Authors:  Tracy Wong; Luke Gammon; Lu Liu; Jemima E Mellerio; Patricia J C Dopping-Hepenstal; John Pacy; George Elia; Rosemary Jeffery; Irene M Leigh; Harshad Navsaria; John A McGrath
Journal:  J Invest Dermatol       Date:  2008-04-03       Impact factor: 8.551

9.  Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

Authors:  Fulvio Mavilio; Graziella Pellegrini; Stefano Ferrari; Francesca Di Nunzio; Enzo Di Iorio; Alessandra Recchia; Giulietta Maruggi; Giuliana Ferrari; Elena Provasi; Chiara Bonini; Sergio Capurro; Andrea Conti; Cristina Magnoni; Alberto Giannetti; Michele De Luca
Journal:  Nat Med       Date:  2006-11-19       Impact factor: 53.440

10.  Global remodelling of cellular microenvironment due to loss of collagen VII.

Authors:  Victoria Küttner; Claudia Mack; Kristoffer T G Rigbolt; Johannes S Kern; Oliver Schilling; Hauke Busch; Leena Bruckner-Tuderman; Jörn Dengjel
Journal:  Mol Syst Biol       Date:  2013-04-16       Impact factor: 11.429

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