Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

Myocardin (MYOCD) is the founding member of a class of transcriptional coactivators that bind the serum-response factor to activate gene expression programs critical in smooth muscle (SM) and cardiac muscle development. Insights into the molecular functions of MYOCD have been obtained from cell cult...

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Detalles Bibliográficos
Autores principales: Houweling, Arjan C., Beaman, Glenda M., Postma, Alex V., Gainous, T. Blair, Lichtenbelt, Klaske D., Brancati, Francesco, Lopes, Filipa M., van der Made, Ingeborg, Polstra, Abeltje M., Robinson, Michael L., Wright, Kevin D., Ellingford, Jamie M., Jackson, Ashley R., Overwater, Eline, Genesio, Rita, Romano, Silvio, Camerota, Letizia, D’Angelo, Emanuela, Meijers-Heijboer, Elizabeth J., Christoffels, Vincent M., McHugh, Kirk M., Black, Brian L., Newman, William G., Woolf, Adrian S., Creemers, Esther E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2019
Materias:
Concise Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301/
https://www.ncbi.nlm.nih.gov/pubmed/31513549
http://dx.doi.org/10.1172/JCI128545

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