Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
twist is required in head mesenchyme for cranial neural tube morphogenesis.
|
7729687 |
1995 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
|
8988166 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
|
8988166 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits.
|
8988167 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
|
8988166 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The TWIST gene codes for a transcription factor containing a basic helix-loop-helix (b-HLH) motif and has recently been described as a candidate gene for Saethre-Chotzen syndrome, based on the detection of mutations within the coding region.
|
9215678 |
1997 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations.
|
9585583 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
|
9792856 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations.
|
9585583 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous TWIST mutations were identified in 8 of 10 patients with Saethre-Chotzen syndrome and in 2 of 43 craniosynostosis patients with no clear diagnosis.
|
9792856 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations.
|
9585583 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This information might also be helpful for clinicians, since molecular defects affecting one allele of the human H-twist ( TWIST ) gene were identified in patients affected with Saethre-Chotzen syndrome (SCS).
|
9580658 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
To date, our detection rate for TWIST or FGFR mutations is 68% in our Saethre-Chotzen syndrome patients, including our five patients elsewhere reported with TWIST mutations.
|
9585583 |
1998 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Finally, since no TWIST mutations were detected in 40 cases of isolated coronal craniosynostosis, the present study suggests that TWIST mutations are specific to Saethre-Chotzen syndrome.
|
10094188 |
1999 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Comprehensive studies in patients with the clinical diagnosis of Saethre-Chotzen syndrome have demonstrated a TWIST gene abnormality in about 80%, up to 37% of which may be large deletions [Johnson et al., 1998].
|
10649491 |
2000 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the human TWIST gene.
|
10649491 |
2000 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS).
|
11754069 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
FISH and dosage-sensitive Southern blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
|
11280946 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.
|
11350121 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified Twist target genes using human mutant calvaria osteoblastic cells from a child with Saethre-Chotzen syndrome with a Twist mutation that introduces a stop codon upstream of the bHLH domain.
|
11342579 |
2001 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS).
|
11754069 |
2001 |