Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes

Single-minded 2 (SIM2) is a neuron-enriched basic Helix–Loop–Helix/PER–ARNT–SIM (bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2 may play a role in brain...

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Detalles Bibliográficos
Autores principales: Button, Emily L., Rossi, Joseph J., McDougal, Daniel P., Bruning, John B., Peet, Daniel J., Bersten, David C., Rosenfeld, Jill A., Whitelaw, Murray L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2022
Materias:
Mutation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9342896/
https://www.ncbi.nlm.nih.gov/pubmed/35730699
http://dx.doi.org/10.1042/BCJ20220209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9342896/
https://www.ncbi.nlm.nih.gov/pubmed/35730699
http://dx.doi.org/10.1042/BCJ20220209

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