Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from...

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Detalles Bibliográficos
Autores principales: Tenney, Alan P., Di Gioia, Silvio Alessandro, Webb, Bryn D., Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J., Barry, Brenda J., Ray, Tammy, Kosicki, Michael, Robson, Caroline D., Zhang, Zhongyang, Collins, Thomas E., Gelber, Alon, Pratt, Brandon M., Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E., Van Ryzin, Carol, Lehky, Tanya J., Zalewski, Christopher, King, Kelly A., Brewer, Carmen C., Thurm, Audrey, Snow, Joseph, Facio, Flavia M., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy, Chines, Peter S., Bell, Jessica L., Mohan, Suresh, Whitman, Mary C., Staffieri, Sandra E., Elder, James E., Demer, Joseph L., Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A., Brady, Angela F., Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W., Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H., Parker, Stephen C. J., Hadlock, Tessa A., Vissers, Lisenka E. L. M., van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S., Pennacchio, Len A., Manoli, Irini, Engle, Elizabeth C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335940/
https://www.ncbi.nlm.nih.gov/pubmed/37386251
http://dx.doi.org/10.1038/s41588-023-01424-9

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