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

doi:10.3389/fimmu.2024.1499415

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

Community

Back to search

Article

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

Frontiers in immunology - 1 Jan 2024

Miguel Berenguel Laura, Gianelli Carla, Matas Pérez Elisabet, Del Rosal Teresa, Méndez Echevarría Ana, Robles Marhuenda Ángel, Feito Rodríguez Marta, Caballero Molina Maria Teresa, Magallares García Lorena, Sánchez Garrido Brenda, Hita Díaz Samantha, Allende Martínez Luis, Nozal Aranda Pilar, Cámara Hijón Carmen, López Granados Eduardo, Rodríguez Pena Rebeca, Bravo García-Morato María

Abstract excerpt

Background: Splicing is the molecular mechanism to produce mature messenger RNA (mRNA) before its translation into protein. It is estimated that 50% of disease-causing mutations disrupt splicing, mostly of them affecting canonical positions. However, variants occurring in coding regions or deep-intronic variants can also affect splicing. In these cases, interpretation of the results may be challenging and...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to Cohort Studies

Share to Genetic Predisposition to Disease

Share to Infant

Share to Pedigree

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 39944559
DOI: 10.3389/fimmu.2024.1499415
PMCID: PMC11814461

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

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.PMID 39944559Read ↗

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.Semantic proximity Read ↗

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.Semantic proximity Read ↗

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.Semantic proximity Read ↗

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.Semantic proximity Read ↗

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.Semantic proximity Read ↗

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort studySemantic proximity Read ↗

Novel genetic variants of inborn errors of immunity.Semantic proximity Read ↗

Genetic screening in a Brazilian cohort with inborn errors of immunity.Semantic proximity Read ↗

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysisSemantic proximity Read ↗

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisSemantic proximity Read ↗

Splicing in the Diagnosis of Rare Disease: Advances and ChallengesSemantic proximity Read ↗

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.Semantic proximity Read ↗

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