Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response

by admin | Oct 16, 2025 | Publications

Published publications Živná M, Lenders M, Kmoch S (2025) Nephron 580–590. https://doi.org/10.1159/000545388

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

by admin | Oct 16, 2025 | Publications

Unpublished preprint Anderson KJ, Thorolfsdottir ET, Nodelman IM, et al (2025) . medRxiv Prepr Serv Heal Sci. https://doi.org/10.1101/2025.05.06.25326635

Single-nucleus transcriptome analysis provides new insights into B chromosome elimination in sorghum

by admin | Oct 16, 2025 | Publications

Unpublished preprint Bojdová T, Abaffy P, Holušová K, et al (2025) bioRxiv 2025.10.07.680864 https://doi.org/10.1101/2025.10.07.680864

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

by admin | Oct 16, 2025 | Publications

Unpublished preprint Çubuk H, Plech M, Aslanzadeh V, et al (2025) bioRxiv 2025.08.15.670494. https://doi.org/10.1101/2025.08.15.670494

PU.1-driven enrichment enables microglia profiling from frozen brain tissue using the high-throughput Smart-seq3xpress method

by admin | Oct 16, 2025 | Publications

Unpublished preprint Dostalova D, Abaffy P, Rohlova E, et al (2025) bioRxiv 2025.08.11.669607. https://doi.org/10.1101/2025.08.11.669607

De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity

by admin | Oct 16, 2025 | Publications

Unpublished preprint Hnízda A, Martinez-Delgado B, Sanchez-Ponce D, et al (2025) bioRxiv 2025.09.25.678439. https://doi.org/10.1101/2025.09.25.678439