Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R118C
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TWIST1

NM_000474.4:p.R118C

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

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

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

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

Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation.

Guenou H et al.

The American Journal of Pathology, 2006

In vitro differentiation profile of osteoblasts derived from patients with Saethre-Chotzen syndrome.

Ratisoontorn C et al.

Bone, 2005

Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation.

Yousfi M et al.

Human Molecular Genetics, 2002

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

Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.

Barik M et al.

Neurology India, 0

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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."