Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening

The recent recovery of mutations in vesicular trafficking genes causing congenital heart disease (CHD) revealed an unexpected role for the endocytic pathway. We now show that mice with a C4232R missense mutation in Low density lipoprotein receptor related protein 1 (LRP1) exhibit atrioventricular se...

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Detalles Bibliográficos
Autores principales: Lin, Jiuann-Huey I., Feinstein, Timothy N., Jha, Anupma, McCleary, Jacob T., Xu, Juan, Arrigo, Angelo B., Rong, Grace, Maclay, Lindsey M., Ridge, Taylor, Xu, XinXiu, Lo, Cecilia W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297812/
https://www.ncbi.nlm.nih.gov/pubmed/32546759
http://dx.doi.org/10.1038/s42003-020-1035-9

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