Dr. rer. nat. Arif Bülent Ekici

Institute of Human Genetics

Identification of the deregulated NEK1 protein network in skeletal ciliopathies (2020) Vogl C, Keßler K, Gießl A, Kirchner P, Büttner C, Ekici AB, Reis A, Thiel CT Conference contribution Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020) Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C Conference contribution Loss of PHF6 leads to aberrant development of human neuron-like cells (2020) Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C Journal article HLA-G and HLA-F protein isoform expression in breast cancer patients receiving neoadjuvant treatment (2020) Würfel F, Hübner H, Häberle L, Gaß P, Hein A, Jud S, Hack C, et al. Journal article Mycobacterial Cord Factor Reprograms the Macrophage Response to IFN-γ towards Enhanced Inflammation yet Impaired Antigen Presentation and Expression of GBP1 (2020) Huber A, Killy B, Grummel N, Bodendorfer B, Paul S, Wiesmann V, Naschberger E, et al. Journal article, Original article Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases (2020) Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, et al. Journal article A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Uebe S, Ekici AB, Trollmann R, et al. Journal article Arginase expression impedes the resolution of intestinal inflammation by altering the fecal microbiome and the metabolome (2020) Baier J, Gänsbauer M, Giessler C, Arnold H, Muske M, Schleicher U, Lukassen S, et al. Journal article