Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE Mutations in EFNB1 and TWIST1 have been linked to craniofrontonasal and Saethre-Chotzen syndrome, respectively; both present with coronal CS. 30651579 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE Because the effectiveness of HF-SCS may be adversely affected by deterioration of these fibers and/or the condition of the animal, low-frequency (50 Hz) SCS (LF-SCS) was also performed and served as a control. 31095462 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome. 29215649 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE This distance is more significantly altered in FGFR-related brachycephaly syndromes (especially Crouzon and Pfeiffer syndromes), than Saethre-Chotzen syndrome (TWIST1 mutation) and isolated non-syndromic bicoronal synostosis. 29290519 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE Saethre-Chotzen syndrome is an autosomal dominantly inherited disorder caused by mutations in the twist family basic helix-loop-helix transcription factor 1 (TWIST1) gene. 29665811 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE This is the first demonstration that non-coding SNVs of TWIST1 can cause SCS, and highlights the importance of screening the 5' UTR in clinically diagnosed SCS patients without a coding mutation. 30040876 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE In humans, TWIST1 haploinsufficiency causes Saethre-Chotzen syndrome, which is characterized by craniosynostosis. 30450715 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. 28220539 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. 30372441 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 AlteredExpression disease BEFREE Knock-down of C-ROS-1 expression in TWIST-1 haploinsufficient calvarial cells derived from SCS patients was associated with decreased capacity for osteogenic differentiation in vitro. 29663378 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE Although about one hundred different TWIST1 mutations have been reported in patients with the dominant haploinsufficiency Saethre-Chotzen syndrome (typically associated with craniosynostosis), substitutions uniquely affecting the Glu117 codon were not observed previously. 28369379 2017
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE Our study demonstrates that MD simulations provide a structural explanation for the loss-of-function associated with the SCS TWIST1 mutation and provides a proof of concept of the predictive value of these MD simulations. 28521820 2017
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE In humans, Twist1 malfunction was first linked to Saethre-Chotzen syndrome and later identified to play an essential role in tumor initiation, stemness, angiogenesis, invasion, metastasis, and chemo-resistance in a variety of carcinomas, sarcomas, and hematological malignances. 28099910 2017
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome. 26289989 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE Thus, we propose that TCF12 screening should be included for TWIST1 negative SCS patients and in patients where the coronal suture is affected. 25271085 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE This review first summarizes the roles of Twist1 in embryo development and Saethre-Chotzen syndrome followed by a discussion of Twist1's critical functions in cancer. 26084282 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE We highlight the determinant role of the interhelical loops in maintaining the TWIST1-DNA complex structures and provide a structural explanation for the loss of function associated with several TWIST1 mutations/insertions observed in Saethre-Chotzen syndrome patients. 23527594 2014
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE A specific genetic etiology can be identified in ∼21% of cases, including mutations of TWIST1, which encodes a class II basic helix-loop-helix (bHLH) transcription factor, and causes Saethre-Chotzen syndrome, typically associated with coronal synostosis. 23354436 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 AlteredExpression disease BEFREE Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. 23825006 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease CTD_human A specific genetic etiology can be identified in ∼21% of cases, including mutations of TWIST1, which encodes a class II basic helix-loop-helix (bHLH) transcription factor, and causes Saethre-Chotzen syndrome, typically associated with coronal synostosis. 23354436 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 Biomarker disease BEFREE This case illustrates the important contribution of array CGH to the identification of TWIST microdeletions, even in a patient not showing the phenotype typical of Saethre–Chotzen syndrome. 23958897 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
1.000 GeneticVariation disease BEFREE We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. 22569119 2012