Distinguishing ichthyoses by protein profiling.

by Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber
Published 2013-01-01

Induced pluripotent stem cell line from an atopic dermatitis patient heterozygous for c.2282del4 mutation in filaggrin: KCLi001-A

by Liani Devito, Matthew Donne, Nikola Kolundzic, Preeti Khurana, Carl Hobbs, Gabriel Kaddour, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Thea Mauro, Dusko Ilic
Published 2018-08-01

Peroxisomal Fatty Acid Oxidation and Glycolysis Are Triggered in Mouse Models of Lesional Atopic Dermatitis

by Petra Pavel, Géraldine Leman, Martin Hermann, Christian Ploner, Thomas O. Eichmann, Deborah Minzaghi, Franz P.W. Radner, Barbara Del Frari, Robert Gruber, Sandrine Dubrac
Published 2021-09-01

Tight Junction barriers in human hair follicles – role of claudin-1

by Michaela Zorn-Kruppa, Sabine Vidal-y-Sy, Pia Houdek, Ewa Wladykowski, Stephan Grzybowski, Robert Gruber, Christian Gorzelanny, Jason Harcup, Stefan W. Schneider, Amitabha Majumdar, Johanna M. Brandner
Published 2018-08-01

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers

by Dulce Lima Cunha, Amanda Oram, Robert Gruber, Roswitha Plank, Arno Lingenhel, Manoj K. Gupta, Janine Altmüller, Peter Nürnberg, Matthias Schmuth, Johannes Zschocke, Tomo Šarić, Katja M. Eckl, Hans C. Hennies
Published 2021-02-01

Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin: KCLi003-A

by Nikola Kolundzic, Preeti Khurana, Liani Devito, Jakob Jeriha, Jennifer Marx, Carl Hobbs, Xuan Fei Colin Cornelius Wong, John E.A. Common, Mirjana Liovic, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Theodora M. Mauro, Dusko Ilic
Published 2019-08-01

Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin: KCLi002-A

by Nikola Kolundzic, Preeti Khurana, Liani Devito, Matthew Donne, Carl Hobbs, Jakob Jeriha, Xuan Fei Colin Cornelius Wong, John A.E. Common, Ellen Birgitte Lane, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Theodora M. Mauro, Dusko Ilic
Published 2019-07-01

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V

by Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Hans Christian Hennies, Matthias Schmuth
Published 2021-07-01

Meta-Analysis of Mutations in <i>ALOX12B</i> or <i>ALOXE3</i> Identified in a Large Cohort of 224 Patients

by Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D. Irvine, Regina C. Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C. Bolling, Katariina Hannula-Jouppi, Andreas D. Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Published 2021-01-01