Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome

Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). DS is a gene dosage disorder that results in multiple phenotypes including congenital heart defects. This clinically important pathology is the result of a third copy of one or more of the approximately 230 genes on human chromo...

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Publicat a:Sci Transl Med
Autors principals: Lana-Elola, Eva, Aoidi, Rifdat, Llorian, Miriam, Gibbins, Dorota, Buechsenschuetz, Callan, Bussi, Claudio, Flynn, Helen, Gilmore, Tegan, Watson-Scales, Sheona, Hansen, Marie Haugsten, Hayward, Darryl, Song, Ok-Ryul, Brault, Véronique, Herault, Yann, Deau, Emmanuel, Meijer, Laurent, Snijders, Ambrosius P., Gutierrez, Maximiliano G., Fisher, Elizabeth M. C., Tybulewicz, Victor L. J.
Format: Artigo
Idioma:Inglês
Publicat: 2024
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7615651/
https://ncbi.nlm.nih.gov/pubmed/38266108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.add6883
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