Mutations of the TWIST gene in the Saethre-Chotzen syndrome
about
The sonic hedgehog-patched-gli pathway in human development and diseaseThe histone deacetylase 9 gene encodes multiple protein isoformsDown-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferationHOXA5-twist interaction alters p53 homeostasis in breast cancer cellsTwist and p53 reciprocally regulate target genes via direct interactionBasic helix-loop-helix transcription factor epicardin/capsulin/Pod-1 suppresses differentiation by negative regulation of transcriptionTwist is a potential oncogene that inhibits apoptosisAltered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalitiesTwist-1 regulates the miR-199a/214 cluster during developmentGrowth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studiesA Genetic-Pathophysiological Framework for CraniosynostosisThe emerging role of Twist proteins in hematopoietic cells and hematological malignanciesNormal and disease-related biological functions of Twist1 and underlying molecular mechanismsTranscriptional regulatory cascades in Runx2-dependent bone developmentRegulation of gene expression in osteoblasts.Signaling mechanisms implicated in cranial sutures pathophysiology: CraniosynostosisAkirin2 is essential for the formation of the cerebral cortexTWIST, a basic helix-loop-helix transcription factor, can regulate the human osteogenic lineageA survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individualsCooperative E-box regulation of human GLI1 by TWIST and USFSaethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndromeTWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndromeTwist-2 controls myeloid lineage development and functionCraniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndromeThe role of Axin2 in calvarial morphogenesis and craniosynostosisMechanism of transcriptional activation by the proto-oncogene Twist1The proto-oncogene TWIST1 is regulated by microRNAsEarly onset of craniosynostosis in an Apert mouse model reveals critical features of this pathologyGli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiationGuideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on CraniosynostosisCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1Derivation of the mammalian skull vaultTGF-beta and epithelial-to-mesenchymal transitionsTGF-beta-induced epithelial to mesenchymal transitionQuantification of skeletal asymmetries in normal adolescents: cone-beam computed tomography analysis.Identification of DERMO-1 as a member of helix-loop-helix type transcription factors expressed in osteoblastic cells.Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.Transcription factors in dysmorphology.Destabilization of the TWIST1/E12 complex dimerization following the R154P point-mutation of TWIST1: an in silico approach.
P2860
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P2860
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@ast
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en-gb
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@nl
type
label
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@ast
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en-gb
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@nl
prefLabel
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@ast
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en-gb
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@nl
P2093
P921
P3181
P356
P1433
P1476
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
@en
P2093
A L Bolcato-Bellemin
E Lajeunie
F Perrin-Schmitt
J Bonaventure
M Le Merrer
V el Ghouzzi
P2888
P3181
P356
10.1038/NG0197-42
P407
P577
1997-01-01T00:00:00Z
P5875
P6179
1016465731