An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription

Twist1 encodes a basic helix-loop-helix transcription factor (TF), which forms homodimer or heterodimer with other TFs, like E2A, to regulate target genes’ expression. Mutations in TWIST1 are associated with Saethre-Chotzen syndrome (SCS), a rare congenital disorder characterized with osteogenesis a...

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Detalles Bibliográficos
Autores principales: Chen, Run-Ze, Cheng, Xuebo, Tan, Yuexi, Chang, Tien-Chien, Lv, Hailong, Jia, Yichang
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/PMC7016005/
https://www.ncbi.nlm.nih.gov/pubmed/32051525
http://dx.doi.org/10.1038/s41598-020-59455-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016005/
https://www.ncbi.nlm.nih.gov/pubmed/32051525
http://dx.doi.org/10.1038/s41598-020-59455-9

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