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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: Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity Open
Hereditary angioedema (HAE) is a rare genetic disorder with variable expressivity even in carriers of the same underlying genetic defect, suggesting other genetic and epigenetic factors participate in modifying HAE severity. Recent knowled…
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: Splicing Enhancers at Intron–Exon Borders Participate in Acceptor Splice Sites Recognition
Splicing Enhancers at Intron–Exon Borders Participate in Acceptor Splice Sites Recognition Open
Acceptor splice site recognition (3′ splice site: 3′ss) is a fundamental step in precursor messenger RNA (pre-mRNA) splicing. Generally, the U2 small nuclear ribonucleoprotein (snRNP) auxiliary factor (U2AF) heterodimer recognizes the 3′ss…
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: Bending of DNA duplexes with mutation motifs
Bending of DNA duplexes with mutation motifs Open
Mutations can be induced by environmental factors but also arise spontaneously during DNA replication or due to deamination of methylated cytosines at CpG dinucleotides. Sites where mutations occur with higher frequency than would be expec…
View article: Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period
Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period Open
Neutrophils impact on processes preceding the formation of bradykinin, a major swelling mediator in hereditary angioedema (HAE), yet their potential role in HAE pathogenesis has not been sufficiently studied. We assessed the relative mRNA …
View article: Plasma Levels of Myocardial MicroRNA-133a Increase by Intraoperative Cytokine Hemoadsorption in the Complex Cardiovascular Operation
Plasma Levels of Myocardial MicroRNA-133a Increase by Intraoperative Cytokine Hemoadsorption in the Complex Cardiovascular Operation Open
Intraoperative cytokine HA in cardiovascular operations increased the plasma levels of miRNA-133a, suggesting higher myocardial injury.
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 …