Publications
Showing records 1 - 20 (of 37)
Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
Author
Year
Title
Publisher
4604015
Burger, Bettina; Ghosh, A.; Ng, Choon Khong; Piscuoglio, Salvatore; Spoerri, Iris; Itin, Peter H.; Greer, K.; Elbaum, David
2020
Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti
British Journal of Dermatology
4604012
Imahorn, Elias; Aushev, Magomet; Herms, Stefan; Hoffmann, Per; Cichon, Sven; Reichelt, Julia; Itin, Peter H.; Burger, Bettina
2020
Gene expression is stable in a complete CIB1 knockout keratinocyte model
Scientific reports
4596923
Renz, Patricia; Imahorn, Elias; Spoerri, Iris; Aushev, Magomet; March, Oliver P.; Wariwoda, Hedwig; Von Arb, Sarah; Volz, Andreas; Itin, Peter H.; Reichelt, Julia; Burger, Bettina
2019
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti
Journal of cellular and molecular medicine
4514969
Burgener, Anne-Valérie; Bantug, Glenn R.; Meyer, Benedikt J.; Higgins, Rebecca; Ghosh, Adhideb; Bignucolo, Olivier; Ma, Eric H.; Loeliger, Jordan; Unterstab, Gunhild; Geigges, Marco; Steiner, Rebekah; Enamorado, Michel; Ivanek, Robert; Hunziker, Danielle; Schmidt, Alexander; Müller-Durovic, Bojana; Grählert, Jasmin; Epple, Raja; Dimeloe, Sarah; Lötscher, Jonas; Sauder, Ursula; Ebnöther, Monika; Burger, Bettina; Heijnen, Ingmar; Martínez-Cano, Sarai; Cantoni, Nathan; Brücker, Rolf; Kahlert, Christian R.; Sancho, David; Jones, Russell G.; Navarini, Alexander; Recher, Mike; Hess, Christoph
2019
SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2
Nature Immunology
4596931
Moreau, Adrien; Gosselin-Badaroudine, Pascal; Mercier, Aurélie; Burger, Bettina; Keller, Dagmar I.; Chahine, Mohamed
2018
A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy
Scientific reports
4596926
de Jong, Sarah Jill; Imahorn, Elias; Itin, Peter; Uitto, Jouni; Orth, Gérard; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Burger, Bettina
2018
Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses
Frontiers in Microbiology
4596925
de Jong, Sarah Jill; Créquer, Amandine; Matos, Irina; Hum, David; Gunasekharan, Vignesh; Lorenzo, Lazaro; Jabot-Hanin, Fabienne; Imahorn, Elias; Arias, Andres A.; Vahidnezhad, Hassan; Youssefian, Leila; Markle, Janet G.; Patin, Etienne; D'Amico, Aurelia; Wang, Claire Q. F.; Full, Florian; Ensser, Armin; Leisner, Tina M.; Parise, Leslie V.; Bouaziz, Matthieu; Maya, Nataly Portilla; Cadena, Xavier Rueda; Saka, Bayaki; Saeidian, Amir Hossein; Aghazadeh, Nessa; Zeinali, Sirous; Itin, Peter; Krueger, James G.; Laimins, Lou; Abel, Laurent; Fuchs, Elaine; Uitto, Jouni; Franco, Jose Luis; Burger, Bettina; Orth, Gérard; Jouanguy, Emmanuelle; Casanova, Jean-Laurent
2018
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses
Journal of experimental medicine
4480209
Spoerri, Iris; Herms, Stefan; Eytan, O.; Sarig, Ofer; Heinimann, Karl; Sprecher, E.; Itin, Peter H.; Burger, Bettina
2018
Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis
Journal of the European Academy of Dermatology and Venereology : JEADV
3885998
Imahorn, E.; Yüksel, Z.; Spoerri, I.; Gürel, G.; Imhof, C.; Saraçoğlu, Z. N.; Koku Aksu, A. E.; Rady, P. L.; Tyring, S. K.; Kempf, W.; Itin, P. H.; Burger, B.
2017
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease
Journal of the European Academy of Dermatology and Venereology : JEADV
3885978
Moreau, Adrien; Mercier, Aurélie; Thériault, Olivier; Boutjdir, Mohamed; Burger, Bettina; Keller, Dagmar I.; Chahine, Mohamed
2017
Biophysical, Molecular, and Pharmacological Characterization of Voltage-Dependent Sodium Channels From Induced Pluripotent Stem Cell-Derived Cardiomyocytes
Canadian Journal of Cardiology
4374126
Spoerri, Iris; Brena, Michela; De Mesmaeker, Julie; Schlipf, Nina; Fischer, Judith; Tadini, Gianluca; Itin, Peter H.; Burger, Bettina
2015
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome
JAMA dermatology
3885979
Burger, Bettina; Spörri, Iris; Stegmann, Danielle A.; De Mesmaker, Julie; Schaub, Stefan; Itin, Peter H.; Steiger, Jürg; Arnold, Andreas W.
2015
Risk of Cutaneous Squamous Cell Carcinoma Development in Renal Transplant Recipients Is Independent of TMC/EVER Alterations
Dermatology
4374421
Nousbeck, J.; Sarig, O.; Magal, L.; Warshauer, E.; Burger, B.; Itin, P.; Sprecher, E.
2014
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes
British Journal of Dermatology
4374427
Burger, B.; Itin, P. H.
2014
Epidermodysplasia verruciformis
Current problems in dermatology
3885981
Bruegger, Christelle; Kempf, Werner; Spoerri, Iris; Arnold, Andreas W.; Itin, Peter H.; Burger, Bettina
2013
MicroRNA expression differs in cutaneous squamous cell carcinomas and healthy skin of immunocompetent individuals
Experimental dermatology
2833129
Burger, B; Spoerri, I; Schubert, M; Has, C; Itin, P H
2012
Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation
British journal of dermatology
1195828
Burger, B.; Cattani, N.; Trueb, S.; de Lorenzo, R.; Albertini, M.; Bontognali, E.; Itin, C.; Schaub, N.; Itin, P. H.; Heinimann, K.
2011
Prevalence of skin lesions in familial adenomatous polyposis : a marker for presymptomatic diagnosis?
The Oncologist
2833125
Arnold, Andreas W.; Burger, Bettina; Kump, Erwin; Rufle, Alexander; Tyring, Stephen K.; Kempf, Werner; Häusermann, Peter; Itin, Peter H.
2011
Homozygosity for the c.917A -> T (p.N306I) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz
Dermatology
2833132
Mertz, K. D.; Schmid, M.; Burger, B.; Itin, P.; Palmedo, G.; Schärer, L.; Kutzner, H.; Fernández Figueras, M. T.; Cribier, B.; Pfaltz, M.; Kempf, W.
2011
Detection of Merkel cell polyomavirus in epidermodysplasia-verruciformis-associated skin neoplasms
Dermatology
2833128
Burger, Bettina; Fuchs, Dana; Sprecher, Eli; Itin, Peter
2011
The immigration delay disease : adermatoglyphia-inherited absence of epidermal ridges
Journal of the American Academy of Dermatology
Showing records 1 - 20 (of 37)