Literature DB >> 19212342

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

Karin Aufenvenne, Vinzenz Oji, Tatjana Walker, Christoph Becker-Pauly, Hans Christian Hennies, Walter Stöcker, Heiko Traupe.   

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Year:  2009        PMID： 19212342     DOI： 10.1038/jid.2009.18

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


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  8 in total

1.  Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

Authors:  Karin Aufenvenne; Fernando Larcher; Ingrid Hausser; Blanca Duarte; Vinzenz Oji; Heike Nikolenko; Marcela Del Rio; Margitta Dathe; Heiko Traupe
Journal:  Am J Hum Genet       Date:  2013-09-19       Impact factor: 11.025

2.  Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Authors:  F Buket Ü Basmanav; Laura Cau; Aylar Tafazzoli; Marie-Claire Méchin; Sabrina Wolf; Maria Teresa Romano; Frederic Valentin; Henning Wiegmann; Anne Huchenq; Rima Kandil; Natalie Garcia Bartels; Arzu Kilic; Susannah George; Damian J Ralser; Stefan Bergner; David J P Ferguson; Ana-Maria Oprisoreanu; Maria Wehner; Holger Thiele; Janine Altmüller; Peter Nürnberg; Daniel Swan; Darren Houniet; Aline Büchner; Lisa Weibel; Nicola Wagner; Ramon Grimalt; Anette Bygum; Guy Serre; Ulrike Blume-Peytavi; Eli Sprecher; Susanne Schoch; Vinzenz Oji; Henning Hamm; Paul Farrant; Michel Simon; Regina C Betz
Journal:  Am J Hum Genet       Date:  2016-11-17       Impact factor: 11.025

3.  Beta-actin is a target for transglutaminase activity at synaptic endings in chicken telencephalic cell cultures.

Authors:  Lars Dolge; Karin Aufenvenne; Heiko Traupe; Werner Baumgartner
Journal:  J Mol Neurosci       Date:  2011-07-26       Impact factor: 3.444

Review 4.  [Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].

Authors:  V Oji
Journal:  Hautarzt       Date:  2010-10       Impact factor: 0.751

5.  Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.

Authors:  Masashi Akiyama; Kaori Sakai; Teruki Yanagi; Satoshi Fukushima; Hironobu Ihn; Kiyotaka Hitomi; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2010-02-18       Impact factor: 4.307

6.  Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.

Authors:  Naomi Tani; Nanako Yamada; Tetsuya Okazaki; Takashi Horie; Hajime Nakano; Daisuke Sawamura; Osamu Yamamoto
Journal:  Acta Derm Venereol       Date:  2020-10-06       Impact factor: 3.875

7.  Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.

Authors:  Elena Logli; Elisa Marzuolo; Marco D'Agostino; Libenzio Adrian Conti; Anna Maria Lena; Andrea Diociaiuti; Elena Dellambra; Cristina Has; Valentina Cianfanelli; Giovanna Zambruno; May El Hachem; Alessandra Magenta; Eleonora Candi; Angelo Giuseppe Condorelli
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121

8.  Distinguishing ichthyoses by protein profiling.

Authors:  Robert H Rice; Katie M Bradshaw; Blythe P Durbin-Johnson; David M Rocke; Richard A Eigenheer; Brett S Phinney; Matthias Schmuth; Robert Gruber
Journal:  PLoS One       Date:  2013-10-09       Impact factor: 3.240
  8 in total

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