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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Mol Genet
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2017
विषय:
Articles
ऑनलाइन पहुंच: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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