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