Project Publications
Read through our publications
Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression
Unpublished preprint
Vrbacká A, Přistoupilová A, Kidd KO, et al (2025)
bioRxiv 2025.09.06.673538.
https://doi.org/10.1101/2025.09.06.673538 (preprint)
An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease
Unpublished preprint
Kidd KO, Williams AH, Elhassan EAE, et al (2025)
Res Sq. https://doi.org/10.21203/rs.3.rs-7482366/v1 (preprint)
DDX3X syndrome: a multicenter genotype-phenotype study
Unpublished preprint
Coci EG, Gertzen CGW, Millan PC, et al (2025)
DOI:10.21203/rs.3.rs-7842722/v1 (preprint)
Available here
Physiological cell culture media alter nucleotide metabolism in T lymphocytes and increase their sensitivity to methotrexate
Unpublished preprint
Cano-Estrada, C. et al. (2026)
(preprint – available here)
Targeting tumors and inflammation: A quinoline–chalcone ruthenium complex with therapeutic promise
Veselá K, Tatar A, Kejík Z, et al (2026)
Biomed Pharmacother 194:118930.
https://doi.org/https://doi.org/10.1016/j.biopha.2025.118930
Ruthenium-enhanced curcumin derivatives target tumor growth and cancer-related inflammation in head and neck cancer models
Veselá K, Tatar A, Kejík Z, et al (2025)
Front Oncol 15:1708944.
https://doi.org/10.3389/fonc.2025.1708944
Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease
Mušálková, D. et al. (2026)
Kidney360, 7(2).
Available at: https://journals.lww.com/kidney360/fulltext/2026/02000/plasma_metabolites_associated_with_ckd_stage_in.14.aspx
Regulation of Embryonic Wound Healing by Matrix Metalloproteinases in Xenopus laevis Tailbud Stage
Kraus, D. et al. (2026)
Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society, 34(1), p. e70134.
Available at: https://doi.org/10.1111/wrr.70134.
Expanded View of the Pathophysiology of Fabry Disease
Kmoch S, Živná M, Dvela-Levitt M, et al (2025)
Nephron 149:620–624. https://doi.org/10.1159/000546555
Integrated multi-omics profiling uncovers miRNA-guided regulatory networks after spinal cord injury in rats.
Klassen RA, Chytilova S, Arzhanov I, et al (2025)
Mol Ther Nucleic Acids 36:. https://doi.org/10.1016/j.omtn.2025.102746
Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.
Klapperich, A. et al. (2026)
Prenatal diagnosis [Preprint].
Available at: https://doi.org/10.1002/pd.70087.
Characterization of Monogenic Kidney Disease in Older Patients With CKD
Elhassan, E.A.E. et al. (2025)
Kidney International Reports, 10(7), pp. 2140–2152.
Available at: https://doi.org/https://doi.org/10.1016/j.ekir.2025.04.017.
Extracellular vesicles as precision therapeutics for psychiatric conditions: targeting interactions among neuronal, glial, and immune networks
Kawiková I, Špička V, Lai JCK, et al (2025)
Front Immunol 16:1–19
https://doi.org/10.3389/fimmu.2025.1454306
Novel structure motif for the selective inhibition of TET1 protein based on perimidines
Kejík Z, Kaplánek R, Abramenko N, et al (2026)
J Mol Struct 1349
https://doi.org/10.1016/j.molstruc.2025.143720
The potential of exosomes in regenerative medicine and in the diagnosis and therapies of neurodegenerative diseases and cancer
Odehnalová N, Šandriková V, Hromadka R, et al (2025)
Front Med 12
https://doi.org/10.3389/fmed.2025.1539714
Integrated omics reveals disease-associated radial glia-like cells with epigenetically dysregulated interferon response in multiple sclerosis
Park B, Nicaise AM, Tsitsipatis D, et al (2025)
Neuron
https://doi.org/10.1016/j.neuron.2025.09.022
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
Schott C, Alajmi M, Bukhari M, et al (2025)
Genes (Basel) 16
https://doi.org/10.3390/genes16040408
Interaction of Selected Anthracycline and Tetracycline Chemotherapeutics with Poly(I:C) Molecules
Skaličková M, Abramenko N, Charnavets T, et al (2025)
ACS Omega 10:15935–15946.
https://doi.org/10.1021/acsomega.4c05483
Recent Advances in Understanding the Pathophysiology of Fabry Disease
Warnock DG, Linhart A, Bleyer AJ, Kmoch S (2025)
Nephron 569–571
https://doi.org/10.1159/000546085
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo Synthesis
Zikanova M, Skopova V, Stuurman KE, et al (2025)
J Inherit Metab Dis 48:1–8
https://doi.org/10.1002/jimd.70041
Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response
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
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
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
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
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
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
Preparation and characterization of flow reactors for the validation of biological drugs
Diploma thesis
Kordík J (2025)
Univerzita Karlova, Přírodovědecká fakulta Katedra biochemie, 2025.