Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks
Laura Miguel Berenguel, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Pilar Nozal Aranda, Carmen · 2025
Read Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Pilar Nozal Aranda, Carmen (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11814461.txt.
Description
Miguel Berenguel and colleagues validated gene-splicing variants in immune patients in this study from twenty twenty-four. Splicing errors cause a large share of inherited disease, but not all are easy to judge. Among one hundred eighty-seven patients with inborn immune errors, twenty-three carried splicing variants. The team checked each variant's effect with a lab assay on the RNA message.
Twenty-one variants were analyzed, about half of them new to the literature. Most sat at the classic splice sites, where harm is predictable. Variants elsewhere, or in confusing genes, needed the lab proof. The authors propose an algorithm for when validation is required. It aims to spare labs work where the verdict is already clear.
Catalog record
| CREATOR | Laura Miguel Berenguel, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Pilar Nozal Aranda, Carmen |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 45 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |