Lehrstuhl für Humangenetik

Alpha-synuclein fine-tunes neuronal response to pro-inflammatory cytokines (2024) Sigutova V, Xiang W, Regensburger M, Winner B, Prots I Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article, Erratum 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 The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation (2024) Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, et al. Journal article Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline (2024) Wopperer F, Olinger E, Wiesener A, Broeker KA, Knaup K, Schaefer JT, Galiano M, et al. Journal article The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article