Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Clinical immunology (Orlando, Fla.) - 1 Jul 2017

Grodecká Lucie, Hujová Pavla, Kramárek Michal, Kršjaková Tereza, Kováčová Tatiana, Vondrášková Katarína, Ravčuková Barbora, Hrnčířová Kristýna, Souček Přemysl, Freiberger Tomáš

Abstract excerpt

Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivial, especially when SREs are involved. Here, we present data on 92 in silico-/55 minigene-analysed variants detected in genes responsible for the primary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinaemia Tyrosine Kinase
Share to Complement C1 Inactivator Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Complement C1 Inhibitor Protein

Share to Hep G2 Cells

Share to Interleukin Receptor Common gamma Subunit

Share to STAT3 Transcription Factor

Share to U937 Cells

Share to Wiskott-Aldrich Syndrome Protein

Source

Identifiers

PMID: 28359783
DOI: 10.1016/j.clim.2017.03.010

Genes

BTK
SERPING1
STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.PMID 28359783Read ↗

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Semantic proximity Read ↗

An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases.Semantic proximity Read ↗

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and<i>in silico</i>methodsSemantic proximity Read ↗

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.Semantic proximity Read ↗

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.Semantic proximity Read ↗

SpliceDisease database: linking RNA splicing and disease.Semantic proximity Read ↗

Rules and tools to predict the splicing effects of exonic and intronic mutations.Semantic proximity Read ↗

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficienciesSemantic proximity Read ↗

Genome-wide detection of human variants that disrupt intronic branchpointsSemantic proximity Read ↗

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?Semantic proximity Read ↗

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.Semantic proximity Read ↗

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.