Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
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The sonic hedgehog-patched-gli pathway in human development and diseaseDown-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 cellsNonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostinAltered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalitiesNormal and disease-related biological functions of Twist1 and underlying molecular mechanismsFunctional analysis of a mutation in PAX9 associated with familial tooth agenesis in humansA survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individualsAnalysis of the signals and mechanisms mediating nuclear trafficking of GATA-4. Loss of DNA binding is associated with localization in intranuclear specklesA newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1Protein interactions in human genetic diseases.Characterization of sequences in human TWIST required for nuclear localization.The helix-loop-helix transcription factor TWIST is dysregulated in myelodysplastic syndromes.Computational modeling of the bHLH domain of the transcription factor TWIST1 and R118C, S144R and K145E mutantsPhenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.Redundant or separate entities?--roles of Twist1 and Twist2 as molecular switches during gene transcriptionPhosphorylation of serine 68 of Twist1 by MAPKs stabilizes Twist1 protein and promotes breast cancer cell invasivenessCytokine therapy for craniosynostosis.Twist contributes to hormone resistance in breast cancer by downregulating estrogen receptor-α.Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome.Disruption of TWIST1-RELA binding by mutation and competitive inhibition to validate the TWIST1 WR domain as a therapeutic target.Twist is transcriptionally induced by activation of STAT3 and mediates STAT3 oncogenic functionConstitutive proteasomal degradation of TWIST-1 in epithelial-ovarian cancer stem cells impacts differentiation and metastatic potentialInterhelical loops within the bHLH domain are determinant in maintaining TWIST1-DNA complexes.Osteoblast dysfunctions in bone diseases: from cellular and molecular mechanisms to therapeutic strategies.Prioritization of cancer-related genomic variants by SNP association networkMolecular studies on the roles of Runx2 and Twist1 in regulating FGF signaling.Twist overexpression induces in vivo angiogenesis and correlates with chromosomal instability in breast cancerSaethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.Genetic analysis of patients with the Saethre-Chotzen phenotype.
P2860
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P2860
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
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2000 nî lūn-bûn
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@en
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@ast
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@en
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@ast
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@en
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@nl
P2093
P356
P1476
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location
@en
P2093
J Bonaventure
J de Gunzburg
V El Ghouzzi
P356
10.1093/HMG/9.5.813
P407
P577
2000-03-22T00:00:00Z