Video Experimental Relacionado

Updated: Sep 9, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.1K

Una cohorte noruega con enfermedad relacionada con STAT1 - expandiendo aún más el fenotipo clínico

Karen Helene Bronken Martinsen1,2, Torstein Øverland1, Asbjørg Stray-Pedersen3

  • 1Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Frontiers in immunology
|August 29, 2025
PubMed
Resumen

Este estudio describe mutaciones STAT1 en pacientes noruegos, revelando candidiasis crónica en trastornos de ganancia de función STAT1 (GOF) y fenotipos complejos en trastornos de pérdida de función STAT1 (LOF). Los hallazgos amplían la comprensión de estos errores innatos de la inmunidad.

Palabras clave:
STAT1 GOF (por sus siglas en inglés)Estadísticas de la regiónhipertrigliceridemia autoinmuneCandidiasis mucocutánea crónica (CMC por sus siglas en inglés)enfermedad malignaOftalmología

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