Erythrodermie und Blasenbildung bei einem Neugeborenen

por Gasslitter, Irina, Kohlmaier, Benno, Schwaberger, Bernhard, Gruber, Robert
Publicado 2023

Coincidence of Bullous Pemphigoid and Pityriasis Rubra Pilaris

por GASSLITTER, Irina, LÖFFLER-RAGG, Judith, SCHMIDT, Enno, SCHMUTH, Matthias, GRUBER, Robert
Publicado 2022

Keratinocyte‐derived IL‐1β induces PPARG downregulation and PPARD upregulation in human reconstructed epidermis following barrier impairment

por Blunder, Stefan, Krimbacher, Thomas, Moosbrugger‐Martinz, Verena, Gruber, Robert, Schmuth, Matthias, Dubrac, Sandrine
Publicado 2021

Filaggrin null mutations are associated with altered circulating Tregs in atopic dermatitis

por Moosbrugger‐Martinz, Verena, Gruber, Robert, Ladstätter, Katharina, Bellutti, Marion, Blunder, Stefan, Schmuth, Matthias, Dubrac, Sandrine
Publicado 2018

Revisiting the Roles of Filaggrin in Atopic Dermatitis

por Moosbrugger-Martinz, Verena, Leprince, Corinne, Méchin, Marie-Claire, Simon, Michel, Blunder, Stefan, Gruber, Robert, Dubrac, Sandrine
Publicado 2022

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris

por Alakloby, Omar Mohammed, Almuqarrab, Fatimah, Zschocke, Johannes, Schmuth, Mathias, Abdulkareem, Adnan, Alnutaifi, Kholood, Borgio, Francis, Gruber, Robert, Hennies, Hans Christian
Publicado 2023

Distinguishing Ichthyoses by Protein Profiling

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

Epidermal Overexpression of Xenobiotic Receptor PXR Impairs the Epidermal Barrier and Triggers Th2 Immune Response

por Elentner, Andreas, Schmuth, Matthias, Yannoutsos, Nikolaos, Eichmann, Thomas O., Gruber, Robert, Radner, Franz P.W., Hermann, Martin, Del Frari, Barbara, Dubrac, Sandrine
Publicado 2017

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

por Devito, Liani, Donne, Matthew, Kolundzic, Nikola, Khurana, Preeti, Hobbs, Carl, Kaddour, Gabriel, Dubrac, Sandrine, Gruber, Robert, Schmuth, Matthias, Mauro, Thea, Ilic, Dusko
Publicado 2018

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

por Pavel, Petra, Leman, Géraldine, Hermann, Martin, Ploner, Christian, Eichmann, Thomas O., Minzaghi, Deborah, Radner, Franz P.W., Del Frari, Barbara, Gruber, Robert, Dubrac, Sandrine
Publicado 2021

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

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

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

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

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

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

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

por Lima Cunha, Dulce, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmüller, Janine, Nürnberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias, Alabdulkareem, Adnan S., Abdulaziz Alnutaifi, Kholood, Hennies, Hans Christian
Publicado 2019

Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation

por Grond, Susanne, Radner, Franz P.W., Eichmann, Thomas O., Kolb, Dagmar, Grabner, Gernot F., Wolinski, Heimo, Gruber, Robert, Hofer, Peter, Heier, Christoph, Schauer, Silvia, Rülicke, Thomas, Hoefler, Gerald, Schmuth, Matthias, Elias, Peter M., Lass, Achim, Zechner, Rudolf, Haemmerle, Guenter
Publicado 2016

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

por Gruber, Robert, Rogerson, Clare, Windpassinger, Christian, Banushi, Blerida, Straatman-Iwanowska, Anna, Hanley, Joanna, Forneris, Federico, Strohal, Robert, Ulz, Peter, Crumrine, Debra, Menon, Gopinathan K., Blunder, Stefan, Schmuth, Matthias, Müller, Thomas, Smith, Holly, Mills, Kevin, Kroisel, Peter, Janecke, Andreas R., Gissen, Paul
Publicado 2017

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

por McAleer, Maeve A., Pohler, Elizabeth, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, MacGowan, Stuart, Koetsier, Jennifer L., Godsel, Lisa M., Harmon, Robert M., Gruber, Robert, Crumrine, Debra, Elias, Peter M., McDermott, Michael, Butler, Karina, Broderick, Annemarie, Sarig, Ofer, Sprecher, Eli, Green, Kathleen J., McLean, W.H. Irwin, Irvine, Alan D.
Publicado 2015

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

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

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

por Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes
Publicado 2016