Literature DB >> 17711520

Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family.

P L Rady, W R P De Oliveira, Q He, C Festa, E A Rivitti, S B Tucker, S K Tyring.   

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Year:  2007        PMID: 17711520     DOI: 10.1111/j.1365-2133.2007.08123.x

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


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  5 in total

1.  Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.

Authors:  Amandine Crequer; Anja Troeger; Etienne Patin; Cindy S Ma; Capucine Picard; Vincent Pedergnana; Claire Fieschi; Annick Lim; Avinash Abhyankar; Laure Gineau; Ingrid Mueller-Fleckenstein; Monika Schmidt; Alain Taieb; James Krueger; Laurent Abel; Stuart G Tangye; Gérard Orth; David A Williams; Jean-Laurent Casanova; Emmanuelle Jouanguy
Journal:  J Clin Invest       Date:  2012-08-01       Impact factor: 14.808

Review 2.  The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.

Authors:  Agnieszka Kalińska-Bienias; Cezary Kowalewski; Sławomir Majewski
Journal:  Postepy Dermatol Alergol       Date:  2016-05-16       Impact factor: 1.837

3.  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

4.  Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.

Authors:  Amandine Crequer; Capucine Picard; Etienne Patin; Aurelia D'Amico; Avinash Abhyankar; Martine Munzer; Marianne Debré; Shen-Ying Zhang; Geneviève de Saint-Basile; Alain Fischer; Laurent Abel; Gérard Orth; Jean-Laurent Casanova; Emmanuelle Jouanguy
Journal:  PLoS One       Date:  2012-08-27       Impact factor: 3.240

5.  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

  5 in total

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