[HTML][HTML] Saethre-chotzen syndrome
ER Gallagher, C Ratisoontorn, ML Cunningham - 2019 - europepmc.org
… in TWIST1 have been reported to cause SCS, which results from functional haploinsufficiency
of Twist-related protein 1… , whether due to mutation in the DNA binding, HLH, or TWIST box …
of Twist-related protein 1… , whether due to mutation in the DNA binding, HLH, or TWIST box …
[HTML][HTML] TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse
MC Whitman, NM Gilette, JL Bell, SA Kim… - Developmental …, 2022 - Elsevier
… Strabismus in individuals with TWIST1 mutations may therefore be caused by abnormalities
… role of Twist1 expression on EOM precursor differentiation and development, we produced …
… role of Twist1 expression on EOM precursor differentiation and development, we produced …
Craniofacial abnormalities in a murine model of Saethre-Chotzen syndrome
S Lonsdale, R Yong, A Khominsky, S Mihailidis… - Annals of Anatomy …, 2019 - Elsevier
… of functional occlusion, and that the morphological changes in one component can cause …
no comprehensive analysis of the effects of Twist1 mutation on the maxillary-zygomatico-…
no comprehensive analysis of the effects of Twist1 mutation on the maxillary-zygomatico-…
Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
F Diaz-Gonzalez, JM Sacedo-Gutiérrez… - Frontiers in …, 2023 - frontiersin.org
… : Saethre-Chotzen syndrome, a craniosynostosis syndrome … , is caused by haploinsufficiency
of TWIST1. Although the … and previously (mutated bases marked in red). Main wildtype …
of TWIST1. Although the … and previously (mutated bases marked in red). Main wildtype …
TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients
… Heterozygous mutation or loss of function in the TWIST1 gene is associated with
craniosynostosis-1. Family history was negative for facial asymmetry, abnormal hands feet, and other …
craniosynostosis-1. Family history was negative for facial asymmetry, abnormal hands feet, and other …
Pharmacological targeting of KDM6A and KDM6B, as a novel therapeutic strategy for treating craniosynostosis in Saethre-Chotzen syndrome
… Saethre-Chotzen syndrome (SCS) is a common form of craniosynostosis, caused by TWIST-1
gene mutations… to reverse aberrant osteogenic differentiation in the sutures of Twist-1 del/+ …
gene mutations… to reverse aberrant osteogenic differentiation in the sutures of Twist-1 del/+ …
An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent …
RZ Chen, X Cheng, Y Tan, TC Chang, H Lv, Y Jia - Scientific reports, 2020 - nature.com
… The function of TWIST1 in osteogenesis has been reflected by the identification of the
TWIST1 mutations in Saethre-Chotzen syndrome (SCS), a rare congenital disorder often …
TWIST1 mutations in Saethre-Chotzen syndrome (SCS), a rare congenital disorder often …
Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome
S Kilcoyne, C Luscombe, P Scully… - Journal of …, 2019 - journals.lww.com
… However, this study included children with both genetically confirmed TWIST1 mutation and
… , or presence of a grommet which can be differentiated by the ear canal volumes. A Type C …
… , or presence of a grommet which can be differentiated by the ear canal volumes. A Type C …
Facial dysmorphology in Saethre-Chotzen syndrome
… associated with a mutation in the Twist1 gene. … Thus, a loss of Twist1 causes dysregulation
of molecular … as well as through inhibition of osteogeneic differentiation. The extent to which …
of molecular … as well as through inhibition of osteogeneic differentiation. The extent to which …
Genetic Features of Craniosynostosis
… in the differentiation of mesenchymal cells to osteoblasts and chondroblasts. FGFR …
Saethre-Chotzen syndrome (SCS) [46]. Loss-of-function mutations in the transcription factor TWIST1 …
Saethre-Chotzen syndrome (SCS) [46]. Loss-of-function mutations in the transcription factor TWIST1 …