Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S144R
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TWIST1

NM_000474.4:p.S144R

Associated Papers

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 in the human TWIST gene.

Gripp KW et al.

Human Mutation, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."