Katja‐Martina Eckl

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

Vinzenz Oji, Katja‐Martina Eckl, Karin Aufenvenne et al. · The American Journal of Human Genetics · 2010 · 247 citations · Full text

Medicine, Dermatology, Pathology +16

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh‐Mann et al. · Blood · 2016 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Katja‐Martina Eckl, Rotem Tidhar, Holger Thiele et al. · Journal of Investigative Dermatology · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

Diana C. Blaydon, Daniela Nitoiu, Katja‐Martina Eckl et al. · The American Journal of Human Genetics · 2011 · 117 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +10

Molecular Analysis of 250 Patients with Autosomal Recessive Congenital Ichthyosis: Evidence for Mutation Hotspots in ALOXE3 and Allelic Heterogeneity in ALOX12B

Katja‐Martina Eckl, Silvia de Juanes, Janine Kurtenbach et al. · Journal of Investigative Dermatology · 2009 · 114 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9