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 · 246 citations · Full text

Allergy, Cutaneous Biology, Skin Allergy +7

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 · 174 citations · Full text

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 · 163 citations · Full text

Skin Development, Developmental Biology, Pathology +3

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 · 113 citations · Full text

Mutation Hotspots, Mendelian Disorder, Genetic Disorder +6

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 · 113 citations · Full text

Underlie Exfoliative Ichthyosis, Encoding Cystatin A, Protease Inhibitor +9