MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

The β-cell–enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal...

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Detalles Bibliográficos
Autores principales: Iacovazzo, Donato, Flanagan, Sarah E., Walker, Emily, Quezado, Rosana, de Sousa Barros, Fernando Antonio, Caswell, Richard, Johnson, Matthew B., Wakeling, Matthew, Brändle, Michael, Guo, Min, Dang, Mary N., Gabrovska, Plamena, Niederle, Bruno, Christ, Emanuel, Jenni, Stefan, Sipos, Bence, Nieser, Maike, Frilling, Andrea, Dhatariya, Ketan, Chanson, Philippe, de Herder, Wouter W., Konukiewitz, Björn, Klöppel, Günter, Stein, Roland, Korbonits, Márta, Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2018
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798333/
https://www.ncbi.nlm.nih.gov/pubmed/29339498
http://dx.doi.org/10.1073/pnas.1712262115

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