Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clini...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Kim, Sharon, Twigg, Stephen R.F., Scanlon, Victoria A., Chandra, Aditi, Hansen, Tyler J., Alsubait, Arwa, Fenwick, Aimee L., McGowan, Simon J., Lord, Helen, Lester, Tracy, Sweeney, Elizabeth, Weber, Astrid, Cox, Helen, Wilkie, Andrew O.M., Golden, Andy, Corsi, Ann K.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5438873/
https://ncbi.nlm.nih.gov/pubmed/28369379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx107
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