Michal Kramárek
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View article: Functional characterization of 16 variants found in the LDL receptor gene
Functional characterization of 16 variants found in the LDL receptor gene Open
View article: Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs
Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs Open
Tandem donor splice sites (5′ss) are unique regions with at least two GU dinucleotides serving as splicing cleavage sites. The Δ3 tandem 5′ss are a specific subclass of 5′ss separated by 3 nucleotides which can affect protein function by i…
View article: Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort Open
View article: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification Open
View article: Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites
Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites Open
View article: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for <i>LDLR</i> variant classification
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for <i>LDLR</i> variant classification Open
Purpose In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for variant classification in Mendelian disorders. To increase accu…
View article: High-throughput analysis revealed mutations’ diverging effects on <i>SMN1</i> exon 7 splicing
High-throughput analysis revealed mutations’ diverging effects on <i>SMN1</i> exon 7 splicing Open
Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel high-throughput evaluation of different mutations by …
View article: High-throughput analysis revealed mutations’ diverging effects on <i>SMN1</i> exon 7 splicing
High-throughput analysis revealed mutations’ diverging effects on <i>SMN1</i> exon 7 splicing Open
Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel high-throughput evaluation of different mutations by …