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Literature DB >> 24005051

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

Cristina Has¹, Dimitra Kiritsi¹, Jemima E Mellerio², Claus-Werner Franzke¹, Emma Wedgeworth², Iliana Tantcheva-Poor³, Kristin Kernland-Lang⁴, Peter Itin⁵, Michael A Simpson⁶, Patricia J Dopping-Hepenstal⁷, Wataru Fujimoto⁸, John A McGrath², Leena Bruckner-Tuderman⁹.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2013 PMID： 24005051 DOI： 10.1038/jid.2013.367

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

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18 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. The epidermal basement membrane is a composite of separate laminin- or collagen IV-containing networks connected by aggregated perlecan, but not by nidogens.

Authors: Daniel Timo Behrens; Daniela Villone; Manuel Koch; Georg Brunner; Lydia Sorokin; Horst Robenek; Leena Bruckner-Tuderman; Peter Bruckner; Uwe Hansen
Journal: J Biol Chem Date: 2012-04-09 Impact factor: 5.157

3. Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications.

Authors: Laura Huilaja; Tiina Hurskainen; Helena Autio-Harmainen; Raija Sormunen; Hongmin Tu; Silke C Hofmann; Taina Pihlajaniemi; Leena Bruckner-Tuderman; Kaisa Tasanen
Journal: J Invest Dermatol Date: 2009-04-02 Impact factor: 8.551

4. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Authors: Jo-David Fine; Robin A J Eady; Eugene A Bauer; Johann W Bauer; Leena Bruckner-Tuderman; Adrian Heagerty; Helmut Hintner; Alain Hovnanian; Marcel F Jonkman; Irene Leigh; John A McGrath; Jemima E Mellerio; Dedee F Murrell; Hiroshi Shimizu; Jouni Uitto; Anders Vahlquist; David Woodley; Giovanna Zambruno
Journal: J Am Acad Dermatol Date: 2008-04-18 Impact factor: 11.527

Review 5. Kindler syndrome.

Authors: Joey E Lai-Cheong; John A McGrath
Journal: Dermatol Clin Date: 2010-01 Impact factor: 3.478

6. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

Authors: Dimitra Kiritsi; Johannes S Kern; Hauke Schumann; Jürgen Kohlhase; Cristina Has; Leena Bruckner-Tuderman
Journal: J Med Genet Date: 2011-02-28 Impact factor: 6.318

7. Autosomal dominant junctional epidermolysis bullosa.

Authors: N Almaani; L Liu; P J C Dopping-Hepenstal; P A Lovell; J E Lai-Cheong; R M Graham; J E Mellerio; J A McGrath
Journal: Br J Dermatol Date: 2009-12-16 Impact factor: 9.302

8. Keratinocytes from patients lacking collagen XVII display a migratory phenotype.

Authors: Kaisa Tasanen; Lucy Tunggal; Gretel Chometon; Leena Bruckner-Tuderman; Monique Aumailley
Journal: Am J Pathol Date: 2004-06 Impact factor: 4.307

9. SCRATCH: a protein structure and structural feature prediction server.

Authors: J Cheng; A Z Randall; M J Sweredoski; P Baldi
Journal: Nucleic Acids Res Date: 2005-07-01 Impact factor: 16.971

10. Epidermal ADAM17 maintains the skin barrier by regulating EGFR ligand-dependent terminal keratinocyte differentiation.

Authors: Claus-Werner Franzke; Cristina Cobzaru; Antigoni Triantafyllopoulou; Stefanie Löffek; Keisuke Horiuchi; David W Threadgill; Thomas Kurz; Nico van Rooijen; Leena Bruckner-Tuderman; Carl P Blobel
Journal: J Exp Med Date: 2012-05-07 Impact factor: 14.307

3 in total