Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome

Yousfi, Malika; Lasmoles, F.; Lomri, Abderrahim; Delannoy, Philippe; Marie, Pierre J.

doi:10.1172/jci11846

Cited by 80 publications

(73 citation statements)

References 40 publications

(57 reference statements)

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“…8 The osteoblast phenotype in these cells is consistent with the phenotype obtained in primary human calvaria cells in vitro and in vivo. 8,10 The cells were cultured in Dulbecco's modified Eagle's medium supplemented with glutamine (292 mg/L), 10% heat-inactivated fetal calf serum, and antibiotics (100 IU/ml penicillin and 100 g/ml streptomycin).…”

Section: Cell Culture and Proliferationsupporting

confidence: 82%

Down-Regulation of Ubiquitin Ligase Cbl Induced by Twist Haploinsufficiency in Saethre-Chotzen Syndrome Results in Increased PI3K/Akt Signaling and Osteoblast Proliferation

Guénou

Kaabeche

Dufour

et al. 2006

The American Journal of Pathology

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Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). We report here a previously undescribed mechanism involved in the altered osteoblastogenesis in SCS. Cranial osteoblasts from an SCS patient with a Twist mutation causing basic helix-loop-helix deletion exhibited decreased expression of E3 ubiquitin ligase Cbl compared with wild-type osteoblasts. This was associated with decreased ubiquitin-mediated degradation of phosphatidyl inositol 3 kinase (PI3K) and increased PI3K expression and PI3K/Akt signaling.

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Section: Cell Culture and Proliferationsupporting

confidence: 82%

Down-Regulation of Ubiquitin Ligase Cbl Induced by Twist Haploinsufficiency in Saethre-Chotzen Syndrome Results in Increased PI3K/Akt Signaling and Osteoblast Proliferation

Guénou

Kaabeche

Dufour

et al. 2006

The American Journal of Pathology

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“…7 Therefore, it has been suggested that the anti-apoptotic role of TWIST in human calvarial osteoblasts, together with alterations in osteoblast proliferation and differentiation, may play a key role in the development of Saethre-Chotzen and mutational inactivation of TWIST may result in osteoblast apoptosis leading to premature suture ossification. 6 Although several signalling pathways such as ARF/MDM2/p53, TNFa and IGF have been reported to be associated with its antiapoptotic effect in osteoblasts and fibroblasts, 5,7,26 molecular mechanisms responsible for its role in the development and progression of human cancer, especially chemodrug resistance, are largely unknown. In this study, we demonstrated that high TWIST expression in the resistant HNE1-T3 cells was not only correlated with suppression of taxol-induced apoptosis (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] Mutational inactivation of the TWIST gene is suggested to be responsible for the SaethreChotzen syndrome, an autosomal dominant disorder, characterized by premature fusion of the cranial sutures, skull deformations, limb abnormalities and facial dysmorphisims. [4][5][6] Recently, TWIST has been suggested to play a positive role in the development and progression of human cancer. For example, over expression of TWIST is reported in human rhabdomyosarcoma, 7 gastric carcinoma, 8 melonoma, 9 breast cancer, [10][11][12][13] prostate cancer 14 and glioma.…”

mentioning

confidence: 99%

Anti‐apoptotic role of TWIST and its association with Akt pathway in mediating taxol resistance in nasopharyngeal carcinoma cells

Zhang

Wang

Ling

et al. 2007

Intl Journal of Cancer

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TWIST, a basic helix-loop-helix transcription factor, has been reported to be associated with development and progression of human cancer. Recently, over expression of TWIST is found in cancer patients with shorter survival and poor response to chemotherapy. Previously, we found that upregulation of TWIST was responsible for the development of acquired resistance to taxol in a nasopharyngeal carcinoma (NPC) cell line, HNE1-T3 (Wang et al., Oncogene, 2004;24:274). In this study, we investigated the underlying molecular mechanisms responsible for the TWIST-mediated taxol resistance. By comparison of the parental HNE1 and its derivative HNE1-T3 cell lines, we found that the resistance to taxol in HNE1-T3 cells was associated with suppression of taxol-induced apoptosis evidenced by decreased expression of Bak and Bax and increased Bcl-2, as well as inhibition of PARP and caspase cleavage and DNA ladder formation. However, there was no correlation between taxol sensitivity and alterations on G2/M cell cycle distribution, suggesting that the TWIST-induced taxol resistance is mediated through protection against apoptosis but not mitotic arrest. Analysis of additional 8 NPC cell lines showed that upregulation of TWIST was associated with resistance to microtubule disrupting agents, especially taxol, and inactivation of TWIST through small RNA interference led to increased sensitivity to taxol-induced cell death. Subsequent studies also demonstrated that the TWIST-mediated taxol resistance may be regulated through its positive involvement with the Akt pathway. Our findings suggest an underlying molecular mechanism responsible for the TWIST-mediated chemodrug resistance and suggest a target for overcoming taxol resistance in cancer cells. ' 2007 Wiley-Liss, Inc.

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“…Haploinsufficiency of Twist, a basic helix-loop-helix transcription factor, results in premature cranial ossification (el Ghouzzi et al 1997;Howard et al 1997). Twist is expressed in sutural mesenchyme and affects osteoblast gene expression and apoptosis in calvarial osteoblasts (Yousfi et al 2001(Yousfi et al , 2002. Conversely, delayed suture closure is associated with trisomy at the human Twist locus (Stankiewicz et al 2001).…”

Section: Transcriptional Mechanisms Regulating Calvarial Bone Formatimentioning

confidence: 99%

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

Ornitz¹,

Marie²

2002

Genes Dev.

815

648

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Over the last decade the identification of mutations in the receptors for fibroblast growth factors (FGFs) has defined essential roles for FGF signaling in both endochondral and intramembranous bone development. FGF signaling pathways are essential for the earliest stages of limb development and throughout skeletal development. In this review, we examine the role of FGF signaling in bone development and in human genetic diseases that affect bone development. We also explore what is presently known about how FGF signaling pathways interact with other major signaling pathways that regulate chondrogenesis and osteogenesis.

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Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome

Cited by 80 publications

References 40 publications

Down-Regulation of Ubiquitin Ligase Cbl Induced by Twist Haploinsufficiency in Saethre-Chotzen Syndrome Results in Increased PI3K/Akt Signaling and Osteoblast Proliferation

Down-Regulation of Ubiquitin Ligase Cbl Induced by Twist Haploinsufficiency in Saethre-Chotzen Syndrome Results in Increased PI3K/Akt Signaling and Osteoblast Proliferation

Anti‐apoptotic role of TWIST and its association with Akt pathway in mediating taxol resistance in nasopharyngeal carcinoma cells

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

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