Functional analysis of natural mutations in two TWIST protein motifs.
The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transc...
Հիմնական հեղինակներ: | Funato, N, Twigg, SR, Higashihori, N, Ohyama, K, Wall, SA, Wilkie, A, Nakamura, M |
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Ձևաչափ: | Journal article |
Լեզու: | English |
Հրապարակվել է: |
2005
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Նմանատիպ նյութեր
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Evolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain.
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Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
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Հրապարակվել է: (2006) -
Correction: Evolution of the Twist Subfamily Vertebrate Proteins: Discovery of a Signature Motif and Origin of the Twist1 Glycine-Rich Motifs in the Amino-Terminus Disordered Domain.
: Yacidzohara Rodriguez, և այլն
Հրապարակվել է: (2016-01-01)