Institute of Human Genetics

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling (2018) Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, et al. Journal article Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations (2018) Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, et al. Journal article Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons (2018) Jung M, Häberle B, Tschaikowsky T, Wittmann MT, Balta EA, Stadler VC, Zweier C, et al. Journal article Polyol pathway links glucose metabolism to the aggressiveness of cancer cells (2018) Schwab A, Siddiqui A, Vazakidou ME, Napoli F, Böttcher M, Menchicchi B, Raza U, et al. Journal article Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly (2017) Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, et al. Journal article Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease (2017) Chiriac MT, Buchen B, Wandersee A, Hundorfean G, Günther C, Bourjau Y, Doyle SE, et al. Journal article Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease. (2017) Chiriac MT, Buchen B, Wandersee A, Hundorfean G, Günther C, Bourjau Y, Doyle SE, et al. Journal article L- and M-cone driven temporal contrast sensitivity is reduced at low frequencies in patients with Stargardt's disease (2017) Huchzermeyer C, Pasutto F, Wiesmann da Silva Reis A, Kremers J Journal article Alpha-synuclein prevents the formation of spherical mitochondria and apoptosis under oxidative stress (2017) Winner B, Menges S, Minakaki G, Schaefer P, Meixner H, Prots I, Schlötzer-Schrehardt U, et al. Journal article KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility (2017) Cascella R, Strafella C, Ragazzo M, Manzo L, Costanza G, Bowes J, Hueffmeier U, et al. Journal article