Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regul...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T., Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W., Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M., Finnila, Candice R., Guillen Sacoto, Maria J., Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S., McDermott, John Henry, Meltzer, Meira R., Monaghan, Kristin G., Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M., Schreiber, John M., Sirsi, Deepa, Wierenga, Klaas J., Wojcik, Monica H., Papuc, Sorina M., Steindl, Katharina, Sticht, Heinrich, Rauch, Anita
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6461771/
https://ncbi.nlm.nih.gov/pubmed/30664714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0331-z
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