Associated Papers
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
37154149 (PubMed )
Supplement: mmc1.xlsx › Sheet1
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.
Chen RZ et al.
Scientific Reports, 2020
Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.
Bouard C et al.
Bmc Structural Biology, 2017
Deciphering the molecular mechanisms underlying the binding of the TWIST1/E12 complex to regulatory E-box sequences.
Bouard C et al.
Nucleic Acids Research, 2016
Interhelical loops within the bHLH domain are determinant in maintaining TWIST1-DNA complexes.
Bouard C et al.
Journal of Biomolecular Structure & Dynamics, 2014
TWIST1 associates with NF-κB subunit RELA via carboxyl-terminal WR domain to promote cell autonomous invasion through IL8 production.
Li S et al.
Bmc Biology, 2012
Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutants.
Maia AM et al.
Bmc Bioinformatics, 2012
Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms.
Qin Q et al.
Cell Research, 2012
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome.
El Ghouzzi V et al.
Febs Letters, 2001
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
El Ghouzzi V et al.
European Journal of Human Genetics : Ejhg, 1999
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