Associated Papers
NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Topa A et al.
American Journal of Medical Genetics. Part A, 2020
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
Apostolopoulou D et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2018
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
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
El Ghouzzi V et al.
Human Molecular Genetics, 2000
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
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas WA et al.
American Journal of Human Genetics, 1998
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