Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report. 24166674 2015
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers. 24127277 2014
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 Biomarker disease BEFREE SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis. 23239640 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation 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
0.800 GeneticVariation disease BEFREE The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway. 21082653 2011
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 AlteredExpression disease BEFREE TSLP receptor is highly expressed in CRS compared to controls and independently from the polyps suggesting an early common inflammatory pathway in the two CRS phenotypes. 21978707 2011
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 Biomarker disease BEFREE This is a confirmatory case report providing further evidence for TWIST1 haploinsufficiency in SCS, although a possible role of PTP-oc as genetic factor underlying or at least influencing the development of craniosynostosis could not be a priori excluded. 21708297 2011
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Given that RUNX2 is required as a master switch for osteoblast differentiation and interacts with TWIST1, mutations in which also cause craniosynostosis, we conclude that the duplication in this family is pathogenic, albeit with reduced penetrance. 20683987 2010
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 Biomarker disease BEFREE Consistent with such a relationship, Twist1-Jagged1 double heterozygotes exhibit a substantial increase in the severity of craniosynostosis over individual heterozygotes. 20727876 2010
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease LHGDN summary of the effects of FGFR2 and Twist genetic mutations resulting in altered osteoblast phenotype and premature cranial fusion based on analysis in human syndromic craniosynostosis [review] 18391499 2008
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease LHGDN no evidence that mosaicism for mutations, normally associated with syndromal forms of craniosynostosis, occur in single suture craniosynostosis 17414280 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 AlteredExpression disease BEFREE The list of genes that are involved in CS includes those coding for the different fibroblast growth factor receptors and a ligand of ephrin receptors, but also genes encoding transcription factors, such as MSX2 and TWIST. 17686002 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst several additional genes make minor contributions. 17621648 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease LHGDN Some TWIST1 mutations in the RUNX2 binding site are associated with craniosynostosis. 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease UNIPROT We performed mutational analysis on 164 infants with isolated, single-suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3. 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease UNIPROT In syndromic craniosynostosis, there is a highly nonrandom pattern of causative autosomal dominant mutations involving TWIST1 and fibroblast growth factor receptors (FGFRs). 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE We performed mutational analysis on 164 infants with isolated, single-suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3. 17343269 2007
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Therefore, we have identified dimer partner selection as an important mediator of Twist1 function and provide a mechanistic understanding of craniosynostosis due to TWIST haploinsufficiency. 16502419 2006
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 Biomarker disease BEFREE Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. 15802514 2005
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE We therefore recommend that genetic analysis of the TWIST gene locus, including fluorescence in situ hybridization, should be considered in familial cases of facial and eyelid abnormalities without the presence of craniosynostosis. 15099347 2004
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 Biomarker disease CTD_human Mice heterozygous for a null mutation of the Twist gene replicate certain features of Saethre-Chotzen syndrome, but have not been reported to exhibit craniosynostosis. 12221714 2003
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. 11748846 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Future TWIST mutational analysis on patients with craniosynostosis and radial ray involvement will shed light on whether Baller-Gerold syndrome should be a distinct entity or some cases should be reclassified as a heterogeneous form of SCS. 11754069 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. 11977182 2002
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.800 GeneticVariation disease BEFREE We have now undertaken such a screen in 259 patients with craniosynostosis in whom mutations in other genes (e.g., FGFR1, FGFR3, and TWIST) had been excluded; part of this screen was a cohort-based study, enabling unbiased estimates of the mutation distribution to be obtained. 11781872 2002