- The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria2010 | First Faculty of Medicine
- Inhalation of ZnO Nanoparticles: Splice Junction Expression and Alternative Splicing in Mice2019 | Second Faculty of Medicine
- Effect of a novel intronic FBN1 mutation on splicing revealed by splicing minigene assayPublication without faculty affiliation
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | First Faculty of Medicine
- Transcriptional co-regulator homolog Prp45 is required for splicing of non-consensual substrates in yeast2008 | Faculty of Science
- Secondary structure is required for 3' splice site recognition in yeast2011 | Faculty of Science
- Structural organization of the pre-mRNA splicing commitment: A hypothesis1996 | First Faculty of Medicine
- CRE promoter sites modulate alternative splicing via p300-mediated histone acetylation2014 | Faculty of Science
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- The SC-35 Splicing Factor Interacts with RNA Pol II and A-Type Lamin Depletion Weakens This Interaction2021 | First Faculty of Medicine
- Multiple Sgip1 splice variants inhibit cannabinoid receptor 1 internalization2024 | Central Library of Charles University
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families2013 | First Faculty of Medicine
- Expression of circular RNAs in myelodysplastic neoplasms and their association with mutations in the splicing factor gene SF3B12023 | Faculty of Science, Central Library of Charles University
- Altered Expression of MBNL Family of Alternative Splicing Factors in Colorectal Cancer2021 | Faculty of Medicine in Pilsen, First Faculty of Medicine
- Alternative splicing in amelogenesis2000 | Faculty of Medicine in Pilsen
- Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification2019 | First Faculty of Medicine
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | First Faculty of Medicine
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | First Faculty of Medicine
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene2012 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Discovery of TP53 splice variants in two novel papillary urothelial cancer cell lines2012 | Faculty of Medicine in Pilsen
- Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report2020 | First Faculty of Medicine
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort2023 | Faculty of Medicine in Pilsen, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Metabotropic glutamate receptor 1 splice variants mGluR1a and -mGluRlb combine in mGluRla/b dimers in vivo2014 | Central Library of Charles University
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | First Faculty of Medicine
- Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells2015 | First Faculty of Medicine
- The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms1998 | Faculty of Physical Education and Sport
- Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity2022 | Faculty of Science, Central Library of Charles University
- Formation of nuclear splicing factor compartments is independent of lamins A/CPublication without faculty affiliation
- The BRCA1 alternative splicing variant Delta 14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells2012 | First Faculty of Medicine, Third Faculty of Medicine