Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of Saethre-Chotzen syndrome.
|
22628249 |
2012 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss-of-function mutations of the human Twist1 gene cause several diseases including the Saethre-Chotzen syndrome.
|
21876555 |
2012 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because of the importance of TWIST1 in the regulation of embryonic development and its relationship with SCS, along with the lack of an experimentally solved 3D structure, we performed comparative modeling for the TWIST1 bHLH region arranged into wild-type homodimers and heterodimers with E47.
|
22839202 |
2012 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By identifying an already described c.445C>T TWIST missense mutation, we were able to reassign the diagnosis of the family condition to Saethre-Chötzen syndrome.
|
22982246 |
2012 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
Saethre-Chotzen Syndrome
|
1.000 |
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 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Small deletions comprising the whole TWIST1 account for a small proportion of patients with Saethre-Chotzen syndrome.
|
21333765 |
2011 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Within this region, the TWIST1 gene encoding a transcription factor was considered as a strong candidate gene since its haploinsufficiency is responsible for the human Saethre-Chotzen syndrome, characterized by skull coronal suture synostosis.
|
21814570 |
2011 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a previously undescribed TWIST1 gene mutation in patients with SCS.
|
20184424 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
|
19755431 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
|
20643727 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.
|
20184424 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a young girl with clinical features of Saethre-Chotzen syndrome who has a previously undescribed sequence variant in the TWIST1 gene, corresponding to p.R191M.
|
19860490 |
2010 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
|
19483581 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
|
19373776 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
|
19373776 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
|
19483581 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present.
|
19373776 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
A retrospective chart review was performed on patients treated at The Children's Hospital of Philadelphia with TWIST1-confirmed Saethre-Chotzen syndrome (n = 22) over 23 years (1985 to 2008).
|
19952666 |
2009 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pathologically, Twist1 is a master regulator of epithelial-to-mesenchymal transition (EMT) and is causative of the autosomal-dominant human disease Saethre Chotzen Syndrome (SCS).
|
18855684 |
2008 |
Saethre-Chotzen Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
|
17343269 |
2007 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
|
17693524 |
2007 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
|
16251895 |
2006 |
Saethre-Chotzen Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Classical SCS associated with a TWIST 1 mutation could be separated phenotypically from the Muenke phenotype on the basis of the following features: low-set frontal hairline, gross ptosis of eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and hallux valgus or broad great toe with bifid distal phalanx.
|
16251895 |
2006 |