|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TWIST-1 haploinsufficiency, leads to alterations in suture mesenchyme cellular gene expression patterns, resulting in aberrant osteogenesis and craniosynostosis.
|
29663378 |
2018 |
|
Craniosynostosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants within the coding region.
|
30040876 |
2018 |
|
Craniosynostosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In humans, TWIST1 haploinsufficiency causes Saethre-Chotzen syndrome, which is characterized by craniosynostosis.
|
30450715 |
2018 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
|
29561715 |
2018 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene.
|
29215649 |
2018 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
IL-22 and IL-22R1 protein and mRNA expression in NP and in uncinate tissues (UT) from CRS and non-CRS patients was examined using immunohistochemistry and real-time PCR, respectively.
|
27502468 |
2017 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Some loss-of-function mutations of the TWIST1 gene have been shown to cause an autosomal dominant craniosynostosis, known as the Saethre-Chotzen syndrome (SCS).
|
28521820 |
2017 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report molecular and cellular processes that regulate dural CV development in mammals and describe venous malformations in humans with craniosynostosis and TWIST1 mutations that are recapitulated in mouse models.
|
28844842 |
2017 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Chromosome conformation capture analyses show that TWIST1 lost genomic interactions with several enhancers due to the chromothripsis event, which likely led to deregulation of TWIST1 expression and contributed to the patient's craniosynostosis phenotype.
|
28126037 |
2017 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Similarly, mutations in TWIST1 cause craniosynostosis, mandibular hypoplasia and cleft palate.
|
28769044 |
2017 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, we applied a full COLD-PCR protocol to the identification of a p.A87_G92del mutation in the TWIST1 gene causing craniosynostosis in a couple at risk for the disease.
|
24166674 |
2014 |
|
Craniosynostosis
|
0.500 |
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 |
2013 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
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 |
2010 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts.
|
18391499 |
2008 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
|
17414280 |
2007 |
|
Craniosynostosis
|
0.500 |
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 |
|
Craniosynostosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
|
17343269 |
2007 |
|
Craniosynostosis
|
0.500 |
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 |