Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R118H
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TWIST1

NM_000474.4:p.R118H

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

32051525 (PubMed )
Supplement: 41598_2020_59455_MOESM2_ESM.pdf

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

Twist1 controls a cell-specification switch governing cell fate decisions within the cardiac neural crest.

Vincentz JW et al.

Plos Genetics, 2013

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

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

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA et al.

American Journal of Human Genetics, 1998

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.

Rose CS et al.

Human Molecular Genetics, 1997

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