Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development

Mutations in the thyroid hormone receptor α 1 gene (THRA) have recently been identified as a cause of intellectual deficit in humans. Patients present with structural abnormalities including microencephaly, reduced cerebellar volume and decreased axonal density. Here, we show that directed different...

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Detalles Bibliográficos
Autores principales: Krieger, Teresa G., Moran, Carla M., Frangini, Alberto, Visser, W. Edward, Schoenmakers, Erik, Muntoni, Francesco, Clark, Chris A., Gadian, David, Chong, Wui K., Kuczynski, Adam, Dattani, Mehul, Lyons, Greta, Efthymiadou, Alexandra, Vargha-Khadem, Faraneh, Simons, Benjamin D., Chatterjee, Krishna, Livesey, Frederick J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2019
Materias:
PNAS Plus
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842615/
https://www.ncbi.nlm.nih.gov/pubmed/31628250
http://dx.doi.org/10.1073/pnas.1908762116

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