Literature DB >> 26997147

Genetic analysis of a novel splice-site mutation in TMC8 reveals the in vivo importance of the transmembrane channel-like domain of TMC8.

T Miyauchi1, T Nomura2, S Suzuki1, M Takeda1, S Shinkuma1, K Arita1, Y Fujita1, H Shimizu1.   

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Year:  2016        PMID： 26997147     DOI： 10.1111/bjd.14569

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  3 in total

1.  Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

Authors:  Sarah J de Jong; Elias Imahorn; Peter Itin; Jouni Uitto; Gérard Orth; Emmanuelle Jouanguy; Jean-Laurent Casanova; Bettina Burger
Journal:  Front Microbiol       Date:  2018-06-12       Impact factor: 5.640

2.  The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

Authors:  Sarah Jill de Jong; Amandine Créquer; Irina Matos; David Hum; Vignesh Gunasekharan; Lazaro Lorenzo; Fabienne Jabot-Hanin; Elias Imahorn; Andres A Arias; Hassan Vahidnezhad; Leila Youssefian; Janet G Markle; Etienne Patin; Aurelia D'Amico; Claire Q F Wang; Florian Full; Armin Ensser; Tina M Leisner; Leslie V Parise; Matthieu Bouaziz; Nataly Portilla Maya; Xavier Rueda Cadena; Bayaki Saka; Amir Hossein Saeidian; Nessa Aghazadeh; Sirous Zeinali; Peter Itin; James G Krueger; Lou Laimins; Laurent Abel; Elaine Fuchs; Jouni Uitto; Jose Luis Franco; Bettina Burger; Gérard Orth; Emmanuelle Jouanguy; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2018-08-01       Impact factor: 17.579

3.  Gene expression is stable in a complete CIB1 knockout keratinocyte model.

Authors:  Elias Imahorn; Magomet Aushev; Stefan Herms; Per Hoffmann; Sven Cichon; Julia Reichelt; Peter H Itin; Bettina Burger
Journal:  Sci Rep       Date:  2020-09-11       Impact factor: 4.379
  3 in total

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