Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

The pathogenic missense variant p.G125R in TBX5 (T-box transcription factor 5) causes Holt–Oram syndrome (also known as hand–heart syndrome) and early onset of atrial fibrillation. Revealing how an altered key developmental transcription factor modulates cardiac physiology in vivo will provide uniqu...

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Detalles Bibliográficos
Autores principales: van Ouwerkerk, Antoinette F., Bosada, Fernanda M., van Duijvenboden, Karel, Houweling, Arjan C., Scholman, Koen T., Wakker, Vincent, Allaart, Cornelis P., Uhm, Jae-Sun, Mathijssen, Inge B., Baartscheer, Ton, Postma, Alex V., Barnett, Phil, Verkerk, Arie O., Boukens, Bastiaan J., Christoffels, Vincent M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Original Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860223/
https://www.ncbi.nlm.nih.gov/pubmed/35113653
http://dx.doi.org/10.1161/CIRCULATIONAHA.121.054347

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