Institute of Human Genetics

ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons (2024) Oliveira D, Assoni AF, Alves LM, Sakugawa A, Melo US, Teles e Silva AL, Sertie AL, et al. Journal article DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres (2024) Bolsinger M, Drobny A, Wilfling S, Reischl S, Krach F, Moritz R, Balta D, et al. Journal article Roflumilast inhibits tumor growth and migration in STK11/LKB1 deficient pancreatic cancer (2024) Zhang S, Yun D, Yang H, Eckstein M, Elbait GD, Zhou Y, Lu Y, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article Chronic silencing of subsets of cortical layer 5 pyramidal neurons has a long-term influence on the laminar distribution of parvalbumin interneurons and the perineuronal nets (2024) Szabó FP, Sigutova V, Schneider AM, Hoerder-Suabedissen A, Molnár Z Journal article Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. (2024) Rauch A, Reis A Journal article Clubbing of Fingers and Nails in Primary Hypertrophic Osteoarthropathy Type 1. (2024) Pauly M, Hüffmeier U, Schmitt-Haendle M Journal article