Atlas of Genetics and Cytogenetics in Oncology and Haematology
TWIST1 (twist homolog 1 (Drosophila))
| Identity |
| Other names | ACS3 |
| BPES2 | |
| BPES3 | |
| H-twist | |
| SCS | |
| TWIST | |
| bHLHa38 | |
| HGNC (Hugo) | TWIST1 |
| LocusID (NCBI) | 7291 |
| Location | 7p21.1 |
| Location_base_pair | Starts at 19155091 and ends at 19157295 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| Description | This gene can be found on Chromosome 7 at location 7p21.2, position 19,121,616-19,123,820 reverse strand. |
| Transcription | The DNA sequence contains 2 exons and the transcript length is 1,669 bp translated to a 202 residues protein. |
| Protein |
| Description | The 20.9 kDa protein encoded by TWIST1 gene is a highly conserved transcription factor that belongs to the family of basic helix-loop-helix (bHLH) proteins. In vertebrates, it is involved in embryonic development through the regulation of epithelial-mesenchymal transitions (EMT) during neural crest migration, also it regulates mesoderm determination, myogenesis, and morphogenesis (Hebrok et al., 1994; Chen et al., 1995). Additionally, TWIST1 is involved in the negative regulation of cellular determination and in the differentiation of several lineages including myogenesis, osteogenesis (Bialek et al., 2004), and neurogenesis (Soo et al., 2002). Inhibits myogenesis by sequestrating E proteins, avoiding trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. Also represses expression of proinflammatory cytokines such as TNFA and IL1B (Barnes et al., 2009). Mutations in this gene have been found in patients with Saethre-Chotzen syndrome (Howard et al., 1997). TWIST1 has been suggested to be oncogenic, contributing to metastasis through its involvement in EMT regulation (Yang et al., 2004). In addition, TWIST1 is overexpressed in multiple tumor types, and it is usually associated with poor prognosis. In mammals, there are two Twist-like proteins, TWIST1 and TWIST2 that share high structural homology (Li et al., 1995; Wolf et al., 1991). It is thought that during osteoblast development TWIST2 or Dermo1 may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype [provided by RefSeq]. Interestingly, TWIST2 has a pro-oncogenic role in human cancer (Ansieau et al., 2008). Structure TWIST1 protein contains a helix-loop-helix DNA-binding domain. Efficient DNA binding requires dimerization with another bHLH protein. |
 | |
| (Mod Base provided) | |
| Expression | The strongest expression of the mRNA is in placental tissue. In adults, mesoderm-derived tissues express TWIST1 mRNA preferentially. |
| Localisation | Nucleus. |
| Function | Role in embryonic development The Twist gene was originally identified as being required for mesoderm induction in Drosophila (Thisse et al., 1987; Leptin et al., 1990) which expression is induced by an interleukin-1-like TOLL receptor through nuclear factor kappaB activation (Furlong et al., 2001). In vertebrates, Twist is predominantly expressed in neural crest cell where is essential for correct patterning of the neural tube (Chen and Behringer, 1995; Soo et al., 2002). However, the nuclear factor kappaB pathway is not involved in mesoderm formation or neural crest development in vertebrates. Instead, BMP-, Wnt-, and fibroblast growth factor-activated pathways are known to modulate vertebrate neural crest development (Meulemans et al., 2004). During mesoderm formation in Drosophila, Twist induces the expression of the transcription factor Snail to allow invagination and mesoderm differentiation (Leptin and Grunewald, 1990). During neural crest development in vertebrates, expression of Snail and Slug occurs at the neural plate border where Twist is also expressed, and all three transcription factors play critical roles in neural crest formation (Meulemans and Bronner-Fraser, 2004). Additional evidence supports the key role of Twist in development, since Twist mutation in mice causes failure in cranial neural tube closure, indicating its role in proper migration and differentiation of neural crest and head mesenchymal cells (Chen and Behringer, 1995; Soo et al., 2002). Role in myogenesis TWIST1 functionally inhibits muscle development by sequestrating E proteins from forming functional myogenic complexes with the skeletal muscle specific bHLH factor, MyoD. The mechanism of action is through the block of both cis- and trans- MyoD elements, and inhibiting transactivation of Mef2 (Barnes and Firulli, 2009). Role in EMT EMT is a process whereby epithelial cell layers lose polarity and cell-cell contacts and undergo a dramatic remodelling of the cytoskeleton. EMT is essential for the morphogenic movements underlying gastrulation and the subsequent formation of various tissues and organs such as the neural crest, heart, musculoskeletal system, craniofacial structures, and peripheral nervous system, and is also implicated in tissue repair in the adult. TWIST1 induces EMT through repression of E-cadherin (Yang et al., 2004). Cells undergoing EMT acquire expression of mesenchymal components and manifest a migratory phenotype. TWIST1 triggers the acquisition of invasive properties through induction of pro-migratory molecules, such as the cell adhesion protein N-cadherin (Alexander et al., 2006) and RhoC, as consequence of inducing the microRNA molecule miR-10b (Ma et al., 2007). Role in control of apoptosis Twist, as a basic helix-loop-helix transcription factor, may activate or suppress diverse downstream targets, including apoptosis genes. Two studies reported that the expression of Twist could inhibit Myc-induced apoptosis in mouse embryo fibroblasts (Maestro et al., 1999) and neuroblastoma cells (Valsesia-Wittmann et al., 2004). This transcriptional control is relevant during EMT, since Twist may need to activate antiapoptotic programs in order to allow epithelial cells to convert to a mesenchymal fate while avoiding cell death due to loss of cell-cell adhesions by epithelial cells. Role in cancer TWIST1 has a key role during cancer development and progression in multiple tumour types. There are four main different malignant processes where this transcription factor is involved: EMT (Vernon et al., 2004), resistance to apoptosis by cytotoxic drugs (Wang et al., 2004) and pro-survival signalling (Puisieux et al., 2006) and hypoxia (Yang et al., 2008). |
| Mutations |
| Note | Germline mutations in the coding region of TWIST1 gene in humans cause Saethre-Chotzen syndrome (SCS), an autosomal-dominant hereditary disorder characterized by limb abnormalities, facial dysmorphisms, and premature fusion of cranial sutures (Howard et al., 1997). This disease is also known as acrocephalosyndactyly type 3 (ACS3). A frameshift mutation in TWIST1 that produce defects of this protein is the cause of Robinow-Sorauf syndrome (RSS); also known as craniosynostosis-bifid hallux syndrome. RSS is an autosomal dominant defect characterized by minor skull and limb anomalies which is very similar to Saethre-Chotzen syndrome (Kunz et al., 1999). Missense mutations in the TWIST1 have been found in a significant number of patients of craniosynostosis type 1 (CRS1). Craniosynostosis consists of premature fusion of one or more cranial sutures, resulting in an abnormal head shape (Seto et al., 2007). |
| Implicated in |
| Entity | Breast cancer |
| Oncogenesis | In human breast cancer, TWIST1 is overexpressed at protein and mRNA levels (Watanabe et al., 2004; Yang et al., 2004; Martin et al., 2005). This upregulation has been usually associated with malignant features of the tumour: invasive lobular carcinoma, a highly infiltrating tumor type (Yang et al., 2004; Vesuna et al., 2008); the increasing nodal involvement (tumor-node-metastasis status); and the poor prognosis of the patients (Martin et al., 2005). TWIST1 overexpression, as a marker of EMT, has been also associated with the metastasis process. Circulating tumour cells of metastactic breast cancer patients showed an increased in EMT and tumor stem markers, included TWIST1 (Aktas et al., 2009); In addition, micrometastatic cells detected in the bone marrow which have prognostic significance in breast cancer displayed a specific expression of TWIST1 (Watson et al., 2007). There are a wide number a molecular mechanisms described to explain the oncogenic role of TWIST1 in breast cancer progression. One of the most common is through the inhibition of expression of the epithelial marker E-cadherin (Yang et al., 2004; Vesuna et al., 2008). Recently, it has been reported that the microRNA, miR10b, is transcriptionally regulated by TWIST further leading to the activation of the pro-metastasic gene product RHOC promoting tumor invasion and migration in breast cancer (Ma et al., 2007). TWIST1 prosurvival and proinvasive functions are also mediated by the transcriptional up-regulation of AKT2 (Cheng et al., 2007). Moreover, there is a correlation between Wnt signalling and TWIST1 (Howe et al., 2003), which were included in a poor prognosis gene signature during metastasis to lung (DiMeo et al., 2009). In addition, TWIST1 is able to increased vascular endothelial growth factor (VEGF) synthesis in MCF7 cells inducing angiogenesis and chromosomal instability (Mironchik et al., 2005; Vesuna et al., 2006). TWIST1 expression is also associated with multidrug resistance since its depletion completely blocked the mesenchymal transformation, partially reversed multidrug resistant and greatly abolished invasion induced by Adriamycin treatment in MCF7 cells (Li et al., 2009). Moreover, TWIST1 specific expression is found in therapy resistant cell populations (Watson et al., 2007; Aktas et al., 2009). Thus, therapy based on interference of TWIST1 might be a successful strategy for chemotherapy resistant breast tumours. Interestingly, an increase of the grade of methylation at TWIST1 promoter has been shown in breast tumours where this feature was correlated with malignant phenotypes (Fackler et al., 2003; Mehrotra et al., 2004). Despite of these findings are opposite to the oncogene behaviour of TWIST1 gene that had been addressed by other authors, no correlation has been found between TWIST1 promoter methylation and TWIST1 protein or RNA expression (Gort et al., 2008). |
| Entity | Rhabdomyosarcomas |
| Oncogenesis | High protein levels of TWIST1 have been observed in 50% of rhabdomyosarcomas. TWIST1 might play multiple roles in the formation of rhabdomyosarcomas, halting terminal differentiation, inhibiting apoptosis, and interfering with the p53 tumor-suppressor pathway (Maestro et al., 1999). Villavicencio and collaborators suggest that TWIST1 could have such oncogenic role at least in part through the activation of GLI1 which is a critical transcription factor of sonic hedgehog signalling able to prevent the exit of the cell cycle and trapping cells in proliferating myoblast pool (Villavicencio et al., 2002). |
| Entity | Gastric carcinomas |
| Oncogenesis | TWIST1 mRNA and protein up-regulation is found with different incidences in both Laurén's classification for gastric carcinomas, with an increase of 40-60% in diffuse type and 25% in intestinal type (Rosivatz et al., 2002; Yan-Qi et al., 2007). Furthermore, TWIST1 expression is correlated with lymph node metastasis, suggesting an association with the neoplastic transformation and subsequent development of gastric cancer (Yan-Qi et al., 2007). In diffuse type gastric carcinomas overexpression of TWIST1 is significantly associated with the increased of expression of N-cadherin (Rosivatz et al., 2002). This bHLH transcription factor is able to regulate the expression of several genes involved in the differentiation, adhesion, migration, invasion and proliferation of several gastric cancer cells (Feng et al., 2009). One of the most important pathways altered in this cancer cell lines is the Wnt/Tcf-4 signalling (Luo et al., 2008). |
| Entity | Neuroblastomas |
| Oncogenesis | TWIST1 is overexpressed in N-Myc-amplified neuroblastoma tumors and cell lines. This oncogenic cooperation of two key regulators of embryogenesis causes cell transformation and malignant outgrowth. While N-Myc induces cell proliferation, TWIST1 inhibits the ARF/p53 pathway involved in the Myc-dependent apoptotic response (Valsesia-Wittmann et al., 2004). |
| Entity | Gliomas |
| Oncogenesis | TWIST1 expression in human gliomas is increased comparing with normal brain at mRNA and protein levels. The mRNA levels are associated with the highest grade gliomas, and increased TWIST1 expression accompanies transition from low to high grade in vivo, suggesting a role in promoting malignant progression in gliomas (Elias et al., 2005). |
| Entity | Oesophageal squamous cell carcinoma |
| Oncogenesis | Upregulation of TWIST1 has been found in oesophageal squamous cell carcinoma (SCC), and this high level of TWIST1 was significantly associated with a greater risk for developing distant metastasis within 1 year of oesophagectomy (Yuen et al., 2007). TWIST1 has been proposed as a prognostic marker for predicting the development of distant metastasis in oesophageal SCC (Yuen et al., 2007). The ectopic expression of TWIST1 drives to the suppression of TIMP1, a specific inhibitor of matrix metalloproteinases, promoting tumour invasion the human epithelial-like osteosarcoma cell line Saos-2 (Okamura et al., 2009). |
| Entity | Pancreatic cancer |
| Oncogenesis | Decreased or only weak expression of TWIST1 is observed in malignant pancreatic epithelium (Hotz et al., 2007; Cates et al., 2009). However, the different expression levels of TWIST1 in pancreatic juice may be useful to differentiate pancreatic cancer from nonmalignant neoplasms, since Twist expression differed significantly between cancer and intraductal papillary mucinous neoplasm bulk tissues (Ohuchida et al., 2007). Additionally, TWIST1 could be also used as a diagnostic marker in chronic pancreatitis because decreased expression is also seen (Cates et al., 2009). Despite of the weak expression in pancreatic cancer, it has been demonstrated that TWIST1 is activated after exposure to hypoxia in several pancreatic cancer cell lines, suggesting an important role in the invasive behavior of pancreatic tumors (Hotz et al., 2007). Several signaling molecules have been reported to be able to activate TWIST1 resulting in EMT during tumour progression in this tumour type: Axl receptor tyrosine kinase (Koorstra et al., 2009); MSX2 (Satoh et al., 2008) and VEGFR-1 (Yang et al., 2006). |
| Entity | Melanoma |
| Oncogenesis | Increased TWIST1 expression and altered expression of additional transcriptional regulators implicated in embryonic development and epidermal/mesenchymal transition has been reported in melanoma cells lines and tissues. Overexpression of TWIST1 in these tumours is associated with worse outcome suggesting its use in assessing prognosis, staging, and therapy of melanoma patients (Hoek et al., 2004). The induction of expression of TWIST1 through MFG-E8 secreted protein from tumor microenviroment has been suggested as one of the mechanisms of regulation of this bHLH transcription factor to promote progression of the disease (Jinushi et al., 2008). |
| Entity | Prostate cancer |
| Oncogenesis | TWIST1 is highly expressed in the majority of prostate cancer tissues. Its expression levels are positively correlated with high-grade prostatic cancer and metastasis (Kwok et al., 2005; Yuen et al., 2007). Furthermore, TWIST1 is able to specifically promote metastasis to bone regulating the expression of DKK-1 via RUNX2 (Wang et al., 2006). Over-expression of TWIST results in down-regulation of p14 (ARF), which leads to the impairment of DNA damage checkpoint in response to genotoxic stress. This negative effect of TWIST on DNA damage response facilitates uncontrolled cell proliferation with genomic instability and tumorigenesis in non-malignant immortalized human prostate epithelial cell lines (Kwok et al., 2007). TWIST1 expression has also been associated with chemotherapy and castration resistance prostate tumours through different mechanisms such as the downregulation of Y-box binding protein-1 and androgen receptor signaling respectively (Kwok et al., 2005; Shiota et al., 2009a; 2009b). |
| Entity | Hepatocellular carcinoma (HCC) |
| Oncogenesis | TWIST1 mRNA and protein are both increased in HCC as compared to non-cancerous tissues. In addition, patients with high Twist expression have poor prognosis (Lee et al., 2006; Niu et al., 2007). These upregulated levels are associated with invasion and migration as a consequence of EMT induction and also with angiogenesis process (Niu et al., 2007; Matsuo et al., 2009). |
| Entity | Epithelial ovarian carcinoma |
| Oncogenesis | Positive TWIST1 expression predicts a poorer overall and progression free survival in patients with epithelial ovarian carcinoma (Kajiyama et al., 2006; Hosono et al., 2007). The role of TWIST1 in tumour progression has been suggested to be associated with EMT and also with chronic paclitaxel-resistance (Kajiyama et al., 2007; Yoshida et al., 2009). There is also a significant incidence of promoter hypermethylation of TWIST1 gene promoter that could be important in early clinical diagnosis and in chemotherapeutic management and treatment of the disease (Dhillon et al., 2004). |
| Entity | Endometrial cancer |
| Oncogenesis | TWIST1 is an independent predictor of patient survival in endometrial cancer and is correlated with E-cadherin silencing (Kyo et al., 2006). Furthermore, ionizing irradiation leads to the increased expression of TWIST1 in the HEC1A endometrial carcinoma cell line promoting cell invasion, suggesting a crucial role in the enhanced invasion after irradiation (Tsukamoto et al., 2007). |
| Entity | Bladder cancer |
| Oncogenesis | In bladder cancer, TWIST1 overexpression is correlated with advanced-stage, high-grade tumours, metastatic lesions, negative expression of E-cadherin and positive expression of N-cadherin (Zhang et al., 2007). More importantly, TWIST1 high expression levels is associated with smoking status of the patients and with worse clinical outcome (Fondrevelle et al., 2009). |
| Entity | Cervical cancer |
| Oncogenesis | Positive TWIST1 expression significantly predicted poorer prognosis in patients with cervical cancer (Shibata et al., 2008). Additionally, the tumour suppressor genes SFRP1 and SFRP2 decrease the invasion abilities of cervical cancer cells through the inhibition of the expression of SLUG, TWIST1 and SNAIL (Chung et al., 2009). However, the promoter methylation status of TWIST1 in combination with RAR-beta and MGMT have also been proposed as markers to distinguish between squamous cell carcinomas and negative squamous intraepithelial lesions from liquid based cytology specimens (Kim et al., 2009). |
| Entity | Head and Neck cancer |
| Oncogenesis | TWIST1 malignant effect is dependent on different molecules like HIF-1, Fascin, EBV and AKT (Horikawa et al., 2007; Yang et al., 2008; Chen et al., 2009; Hong et al., 2009). Upregulation of TWIST1 in nasopharyngeal carcinoma cells has been associated with resistance to microtubule disrupting agents, especially taxol (Zhang et al., 2007). TWIST1 increased levels is associated with malignant parameters such as lymph node invasion and distant metastasis, and the poor prognosis of nasopharyngeal carcinoma patients (Song et al., 2006). |
| Entity | Colorectal cancer |
| Oncogenesis | TWIST1 mRNA is upregulated in colorectal cancer patients. High levels of expression is associated with lymph node metastasis suggesting the relevance of TWIST1 in the outcome of the patients (Valdés-Mora et al., 2009). Interestingly, such increased levels are significantly associated with male gender revealing a plausible regulation through sexual hormones (Valdés-Mora et al., 2009). |
| Entity | Lung cancer |
| Oncogenesis | Overexpression of TWIST1 is associated with poor survival of non-small cell lung cancer (NSCLC) patients (Hung et al., 2009). Again, TWIST1 is an important player in chemotherapy resistance in A549 cell raising the possibility of TWIST1 depletion as a promising approach to lung cancer therapy (Zhuo et al., 2008). Promoter hypermethylation of this gene has been also proposed as a marker of lung adenocarcinoma (Tsou et al., 2007). |
| Entity | Pheochromocytomas |
| Oncogenesis | TWIST1 expression is found in malignant phechromocytomas and correlates with other EMT markers consolidating the relevant role of EMT in the malignant progression of this tumour type (Waldmann et al., 2008). |
| External links |
| Bibliography |
| The twist gene: isolation of a Drosophila zygotic gene necessary for the establishment of dorsoventral pattern. |
| Thisse B, el Messal M, Perrin-Schmitt F. |
| Nucleic Acids Res. 1987 Apr 24;15(8):3439-53. |
| PMID 3106932 |
| Cell shape changes during gastrulation in Drosophila. |
| Leptin M, Grunewald B. |
| Development. 1990 Sep;110(1):73-84. |
| PMID 2081472 |
| The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes. |
| Wolf C, Thisse C, Stoetzel C, Thisse B, Gerlinger P, Perrin-Schmitt F. |
| Dev Biol. 1991 Feb;143(2):363-73. |
| PMID 1840517 |
| M-twist is an inhibitor of muscle differentiation. |
| Hebrok M, Wertz K, Fuchtbauer EM. |
| Dev Biol. 1994 Oct;165(2):537-44. |
| PMID 7958419 |
| twist is required in head mesenchyme for cranial neural tube morphogenesis. |
| Chen ZF, Behringer RR. |
| Genes Dev. 1995 Mar 15;9(6):686-99. |
| PMID 7729687 |
| Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis. |
| Li L, Cserjesi P, Olson EN. |
| Dev Biol. 1995 Nov;172(1):280-92. |
| PMID 7589808 |
| Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. |
| Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. |
| Nat Genet. 1997 Jan;15(1):36-41. |
| PMID 8988166 |
| Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. |
| Kunz J, Hudler M, Fritz B. |
| J Med Genet. 1999 Aug;36(8):650-2. |
| PMID 10465122 |
| Twist is a potential oncogene that inhibits apoptosis. |
| Maestro R, Dei Tos AP, Hamamori Y, Krasnokutsky S, Sartorelli V, Kedes L, Doglioni C, Beach DH, Hannon GJ. |
| Genes Dev. 1999 Sep 1;13(17):2207-17. |
| PMID 10485844 |
| Patterns of gene expression during Drosophila mesoderm development. |
| Furlong EE, Andersen EC, Null B, White KP, Scott MP. |
| Science. 2001 Aug 31;293(5535):1629-33. Epub 2001 Aug 2. |
| PMID 11486054 |
| Differential expression of the epithelial-mesenchymal transition regulators snail, SIP1, and twist in gastric cancer. |
| Rosivatz E, Becker I, Specht K, Fricke E, Luber B, Busch R, Hofler H, Becker KF. |
| Am J Pathol. 2002 Nov;161(5):1881-91. |
| PMID 12414534 |
| Twist function is required for the morphogenesis of the cephalic neural tube and the differentiation of the cranial neural crest cells in the mouse embryo. |
| Soo K, O'Rourke MP, Khoo PL, Steiner KA, Wong N, Behringer RR, Tam PP. |
| Dev Biol. 2002 Jul 15;247(2):251-70. |
| PMID 12086465 |
| Cooperative E-box regulation of human GLI1 by TWIST and USF. |
| Villavicencio EH, Yoon JW, Frank DJ, Fuchtbauer EM, Walterhouse DO, Iannaccone PM. |
| Genesis. 2002 Apr;32(4):247-58. |
| PMID 11948912 |
| DNA methylation of RASSF1A, HIN-1, RAR-beta, Cyclin D2 and Twist in in situ and invasive lobular breast carcinoma. |
| Fackler MJ, McVeigh M, Evron E, Garrett E, Mehrotra J, Polyak K, Sukumar S, Argani P. |
| Int J Cancer. 2003 Dec 20;107(6):970-5. |
| PMID 14601057 |
| Twist is up-regulated in response to Wnt1 and inhibits mouse mammary cell differentiation. |
| Howe LR, Watanabe O, Leonard J, Brown AM. |
| Cancer Res. 2003 Apr 15;63(8):1906-13. |
| PMID 12702582 |
| A twist code determines the onset of osteoblast differentiation. |
| Bialek P, Kern B, Yang X, Schrock M, Sosic D, Hong N, Wu H, Yu K, Ornitz DM, Olson EN, Justice MJ, Karsenty G. |
| Dev Cell. 2004 Mar;6(3):423-35. |
| PMID 15030764 |
| The contribution of genetic and epigenetic changes in granulosa cell tumors of ovarian origin. |
| Dhillon VS, Aslam M, Husain SA. |
| Clin Cancer Res. 2004 Aug 15;10(16):5537-45. |
| PMID 15328194 |
| Expression profiling reveals novel pathways in the transformation of melanocytes to melanomas. |
| Hoek K, Rimm DL, Williams KR, Zhao H, Ariyan S, Lin A, Kluger HM, Berger AJ, Cheng E, Trombetta ES, Wu T, Niinobe M, Yoshikawa K, Hannigan GE, Halaban R. |
| Cancer Res. 2004 Aug 1;64(15):5270-82. |
| PMID 15289333 |
| Very high frequency of hypermethylated genes in breast cancer metastasis to the bone, brain, and lung. |
| Mehrotra J, Vali M, McVeigh M, Kominsky SL, Fackler MJ, Lahti-Domenici J, Polyak K, Sacchi N, Garrett-Mayer E, Argani P, Sukumar S. |
| Clin Cancer Res. 2004 May 1;10(9):3104-9. |
| PMID 15131050 |
| Gene-regulatory interactions in neural crest evolution and development. |
| Meulemans D, Bronner-Fraser M. |
| Dev Cell. 2004 Sep;7(3):291-9. |
| PMID 15363405 |
| Oncogenic cooperation between H-Twist and N-Myc overrides failsafe programs in cancer cells |
| Valsesia-Wittmann S, Magdeleine M, Dupasquier S, Garin E, Jallas AC, Combaret V, Krause A, Leissner P, Puisieux A. |
| Cancer Cell. 2004 Dec;6(6):625-30. |
| PMID 15607966 |
| Tumor metastasis: a new twist on epithelial-mesenchymal transitions. |
| Vernon AE, LaBonne C. |
| Curr Biol. 2004 Sep 7;14(17):R719-21. |
| PMID 15341765 |
| Identification of a novel function of TWIST, a bHLH protein, in the development of acquired taxol resistance in human cancer cells. |
| Wang X, Ling MT, Guan XY, Tsao SW, Cheung HW, Lee DT, Wong YC. |
| Oncogene. 2004 Jan 15;23(2):474-82. |
| PMID 14724576 |
| Expression of twist and wnt in human breast cancer. |
| Watanabe O, Imamura H, Shimizu T, Kinoshita J, Okabe T, Hirano A, Yoshimatsu K, Konno S, Aiba M, Ogawa K. |
| Anticancer Res. 2004 Nov-Dec;24(6):3851-6. |
| PMID 15736421 |
| Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis. |
| Yang J, Mani SA, Donaher JL, Ramaswamy S, Itzykson RA, Come C, Savagner P, Gitelman I, Richardson A, Weinberg RA. |
| Cell. 2004 Jun 25;117(7):927-39. |
| PMID 15210113 |
| TWIST is expressed in human gliomas and promotes invasion. |
| Elias MC, Tozer KR, Silber JR, Mikheeva S, Deng M, Morrison RS, Manning TC, Silbergeld DL, Glackin CA, Reh TA, Rostomily RC. |
| Neoplasia. 2005 Sep;7(9):824-37. |
| PMID 16229805 |
| Up-regulation of TWIST in prostate cancer and its implication as a therapeutic target. |
| Kwok WK, Ling MT, Lee TW, Lau TC, Zhou C, Zhang X, Chua CW, Chan KW, Chan FL, Glackin C, Wong YC, Wang X. |
| Cancer Res. 2005 Jun 15;65(12):5153-62. |
| PMID 15958559 |
| Expression of the transcription factors snail, slug, and twist and their clinical significance in human breast cancer. |
| Martin TA, Goyal A, Watkins G, Jiang WG. |
| Ann Surg Oncol. 2005 Jun;12(6):488-96. Epub 2005 Apr 19. |
| PMID 15864483 |
| Twist overexpression induces in vivo angiogenesis and correlates with chromosomal instability in breast cancer. |
| Mironchik Y, Winnard PT Jr, Vesuna F, Kato Y, Wildes F, Pathak AP, Kominsky S, Artemov D, Bhujwalla Z, Van Diest P, Burger H, Glackin C, Raman V. |
| Cancer Res. 2005 Dec 1;65(23):10801-9. |
| PMID 16322226 |
| N-cadherin gene expression in prostate carcinoma is modulated by integrin-dependent nuclear translocation of Twist1. |
| Alexander NR, Tran NL, Rekapally H, Summers CE, Glackin C, Heimark RL. |
| Cancer Res. 2006 Apr 1;66(7):3365-9. |
| PMID 16585154 |
| Twist expression predicts poor clinical outcome of patients with clear cell carcinoma of the ovary. |
| Kajiyama H, Hosono S, Terauchi M, Shibata K, Ino K, Yamamoto E, Nomura S, Nawa A, Kikkawa F. |
| Oncology. 2006;71(5-6):394-401. Epub 2007 Aug 9. |
| PMID 17690559 |
| High Twist expression is involved in infiltrative endometrial cancer and affects patient survival. |
| Kyo S, Sakaguchi J, Ohno S, Mizumoto Y, Maida Y, Hashimoto M, Nakamura M, Takakura M, Nakajima M, Masutomi K, Inoue M. |
| Hum Pathol. 2006 Apr;37(4):431-8. |
| PMID 16564917 |
| Twist overexpression correlates with hepatocellular carcinoma metastasis through induction of epithelial-mesenchymal transition. |
| Lee TK, Poon RT, Yuen AP, Ling MT, Kwok WK, Wang XH, Wong YC, Guan XY, Man K, Chau KL, Fan ST. |
| Clin Cancer Res. 2006 Sep 15;12(18):5369-76. |
| PMID 17000670 |
| A twist for survival and cancer progression. |
| Puisieux A, Valsesia-Wittmann S, Ansieau S. |
| Br J Cancer. 2006 Jan 16;94(1):13-7. |
| PMID 16306876 |
| The clinical significance of twist expression in nasopharyngeal carcinoma. |
| Song LB, Liao WT, Mai HQ, Zhang HZ, Zhang L, Li MZ, Hou JH, Fu LW, Huang WL, Zeng YX, Zeng MS. |
| Cancer Lett. 2006 Oct 28;242(2):258-65. Epub 2006 Jan 18. |
| PMID 16412561 |
| Twist overexpression promotes chromosomal instability in the breast cancer cell line MCF-7. |
| Vesuna F, Winnard P Jr, Glackin C, Raman V. |
| Cancer Genet Cytogenet. 2006 Jun;167(2):189-91. |
| PMID 16737925 |
| Identification of a unique set of genes altered during cell-cell contact in an in vitro model of prostate cancer bone metastasis. |
| Wang J, Levenson AS, Satcher RL Jr. |
| Int J Mol Med. 2006 May;17(5):849-56. |
| PMID 16596270 |
| Vascular endothelial growth factor receptor-1 activation mediates epithelial to mesenchymal transition in human pancreatic carcinoma cells. |
| Yang AD, Camp ER, Fan F, Shen L, Gray MJ, Liu W, Somcio R, Bauer TW, Wu Y, Hicklin DJ, Ellis LM. |
| Cancer Res. 2006 Jan 1;66(1):46-51. |
| PMID 16397214 |
| Twist transcriptionally up-regulates AKT2 in breast cancer cells leading to increased migration, invasion, and resistance to paclitaxel. |
| Cheng GZ, Chan J, Wang Q, Zhang W, Sun CD, Wang LH. |
| Cancer Res. 2007 Mar 1;67(5):1979-87. |
| PMID 17332325 |
| Twist and epithelial-mesenchymal transition are induced by the EBV oncoprotein latent membrane protein 1 and are associated with metastatic nasopharyngeal carcinoma. |
| Horikawa T, Yang J, Kondo S, Yoshizaki T, Joab I, Furukawa M, Pagano JS. |
| Cancer Res. 2007 Mar 1;67(5):1970-8. |
| PMID 17332324 |
| Expression of Twist increases the risk for recurrence and for poor survival in epithelial ovarian carcinoma patients. |
| Hosono S, Kajiyama H, Terauchi M, Shibata K, Ino K, Nawa A, Kikkawa F. |
| Br J Cancer. 2007 Jan 29;96(2):314-20. Epub 2007 Jan 9. |
| PMID 17211477 |
| Epithelial to mesenchymal transition: expression of the regulators snail, slug, and twist in pancreatic cancer. |
| Hotz B, Arndt M, Dullat S, Bhargava S, Buhr HJ, Hotz HG. |
| Clin Cancer Res. 2007 Aug 15;13(16):4769-76. |
| PMID 17699854 |
| Chemoresistance to paclitaxel induces epithelial-mesenchymal transition and enhances metastatic potential for epithelial ovarian carcinoma cells. |
| Kajiyama H, Shibata K, Terauchi M, Yamashita M, Ino K, Nawa A, Kikkawa F. |
| Int J Oncol. 2007 Aug;31(2):277-83. |
| PMID 17611683 |
| Role of p14ARF in TWIST-mediated senescence in prostate epithelial cells. |
| Kwok WK, Ling MT, Yuen HF, Wong YC, Wang X. |
| Carcinogenesis. 2007 Dec;28(12):2467-75. Epub 2007 Aug 8. |
| PMID 17690110 |
| Tumour invasion and metastasis initiated by microRNA-10b in breast cancer. |
| Ma L, Teruya-Feldstein J, Weinberg RA. |
| Nature. 2007 Oct 11;449(7163):682-8. Epub 2007 Sep 26. |
| PMID 17898713 |
| Up-regulation of Twist induces angiogenesis and correlates with metastasis in hepatocellular carcinoma. |
| Niu RF, Zhang L, Xi GM, Wei XY, Yang Y, Shi YR, Hao XS. |
| J Exp Clin Cancer Res. 2007 Sep;26(3):385-94. |
| PMID 17987801 |
| Twist, a novel oncogene, is upregulated in pancreatic cancer: clinical implication of Twist expression in pancreatic juice. |
| Ohuchida K, Mizumoto K, Ohhashi S, Yamaguchi H, Konomi H, Nagai E, Yamaguchi K, Tsuneyoshi M, Tanaka M. |
| Int J Cancer. 2007 Apr 15;120(8):1634-40. |
| PMID 17236203 |
| Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. |
| Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML. |
| Am J Med Genet A. 2007 Apr 1;143(7):678-86. |
| PMID 17343269 |
| Identification of a panel of sensitive and specific DNA methylation markers for lung adenocarcinoma. |
| Tsou JA, Galler JS, Siegmund KD, Laird PW, Turla S, Cozen W, Hagen JA, Koss MN, Laird-Offringa IA. |
| Mol Cancer. 2007 Oct 29;6:70. |
| PMID 17967182 |
| Irradiation-induced epithelial-mesenchymal transition (EMT) related to invasive potential in endometrial carcinoma cells. |
| Tsukamoto H, Shibata K, Kajiyama H, Terauchi M, Nawa A, Kikkawa F. |
| Gynecol Oncol. 2007 Dec;107(3):500-4. Epub 2007 Oct 1. |
| PMID 17905419 |
| Isolation and molecular profiling of bone marrow micrometastases identifies TWIST1 as a marker of early tumor relapse in breast cancer patients. |
| Watson MA, Ylagan LR, Trinkaus KM, Gillanders WE, Naughton MJ, Weilbaecher KN, Fleming TP, Aft RL. |
| Clin Cancer Res. 2007 Sep 1;13(17):5001-9. |
| PMID 17785550 |
| Expression and significance of TWIST basic helix-loop-helix protein over-expression in gastric cancer. |
| Yan-Qi Z, Xue-Yan G, Shuang H, Yu C, Fu-Lin G, Fei-Hu B, Shi-Ren S, Xu-Feng W, Jie D, Dai-Ming F. |
| Pathology. 2007 Oct;39(5):470-5. |
| PMID 17886095 |
| Upregulation of Twist in oesophageal squamous cell carcinoma is associated with neoplastic transformation and distant metastasis. |
| Yuen HF, Chan YP, Wong ML, Kwok WK, Chan KK, Lee PY, Srivastava G, Law SY, Wong YC, Wang X, Chan KW. |
| J Clin Pathol. 2007 May;60(5):510-4. Epub 2006 Jul 5. |
| PMID 16822877 |
| Significance of TWIST and E-cadherin expression in the metastatic progression of prostatic cancer. |
| Yuen HF, Chua CW, Chan YP, Wong YC, Wang X, Chan KW. |
| Histopathology. 2007 Apr;50(5):648-58. |
| PMID 17394502 |
| Anti-apoptotic role of TWIST and its association with Akt pathway in mediating taxol resistance in nasopharyngeal carcinoma cells. |
| Zhang X, Wang Q, Ling MT, Wong YC, Leung SC, Wang X. |
| Int J Cancer. 2007 May 1;120(9):1891-8. |
| PMID 17230521 |
| Significance of TWIST expression and its association with E-cadherin in bladder cancer. |
| Zhang Z, Xie D, Li X, Wong YC, Xin D, Guan XY, Chua CW, Leung SC, Na Y, Wang X. |
| Hum Pathol. 2007 Apr;38(4):598-606. Epub 2007 Jan 29. |
| PMID 17258791 |
| Induction of EMT by twist proteins as a collateral effect of tumor-promoting inactivation of premature senescence. |
| Ansieau S, Bastid J, Doreau A, Morel AP, Bouchet BP, Thomas C, Fauvet F, Puisieux I, Doglioni C, Piccinin S, Maestro R, Voeltzel T, Selmi A, Valsesia-Wittmann S, Caron de Fromentel C, Puisieux A. |
| Cancer Cell. 2008 Jul 8;14(1):79-89. |
| PMID 18598946 |
| Methylation of the TWIST1 promoter, TWIST1 mRNA levels, and immunohistochemical expression of TWIST1 in breast cancer. |
| Gort EH, Suijkerbuijk KP, Roothaan SM, Raman V, Vooijs M, van der Wall E, van Diest PJ. |
| Cancer Epidemiol Biomarkers Prev. 2008 Dec;17(12):3325-30. |
| PMID 19064546 |
| Milk fat globule EGF-8 promotes melanoma progression through coordinated Akt and twist signaling in the tumor microenvironment. |
| Jinushi M, Nakazaki Y, Carrasco DR, Draganov D, Souders N, Johnson M, Mihm MC, Dranoff G. |
| Cancer Res. 2008 Nov 1;68(21):8889-98. |
| PMID 18974133 |
| Effect and mechanism of the Twist gene on invasion and metastasis of gastric carcinoma cells. |
| Luo GQ, Li JH, Wen JF, Zhou YH, Hu YB, Zhou JH. |
| World J Gastroenterol. 2008 Apr 28;14(16):2487-93. |
| PMID 18442194 |
| Up-regulation of MSX2 enhances the malignant phenotype and is associated with twist 1 expression in human pancreatic cancer cells. |
| Satoh K, Hamada S, Kimura K, Kanno A, Hirota M, Umino J, Fujibuchi W, Masamune A, Tanaka N, Miura K, Egawa S, Motoi F, Unno M, Vonderhaar BK, Shimosegawa T. |
| Am J Pathol. 2008 Apr;172(4):926-39. Epub 2008 Mar 18. |
| PMID 18349132 |
| Twist expression in patients with cervical cancer is associated with poor disease outcome. |
| Shibata K, Kajiyama H, Ino K, Terauchi M, Yamamoto E, Nawa A, Nomura S, Kikkawa F. |
| Ann Oncol. 2008 Jan;19(1):81-5. Epub 2007 Oct 8. |
| PMID 17925286 |
| Twist is a transcriptional repressor of E-cadherin gene expression in breast cancer. |
| Vesuna F, van Diest P, Chen JH, Raman V. |
| Biochem Biophys Res Commun. 2008 Mar 7;367(2):235-41. Epub 2007 Dec 4. |
| PMID 18062917 |
| Expression of the zinc-finger transcription factor Snail in adrenocortical carcinoma is associated with decreased survival. |
| Waldmann J, Feldmann G, Slater EP, Langer P, Buchholz M, Ramaswamy A, Saeger W, Rothmund M, Fendrich V. |
| Br J Cancer. 2008 Dec 2;99(11):1900-7. Epub 2008 Nov 18. |
| PMID 19018264 |
| TWIST activation by hypoxia inducible factor-1 (HIF-1): implications in metastasis and development. |
| Yang MH, Wu KJ. |
| Cell Cycle. 2008 Jul 15;7(14):2090-6. Epub 2008 May 21. |
| PMID 18635960 |
| Direct regulation of TWIST by HIF-1alpha promotes metastasis. |
| Yang MH, Wu MZ, Chiou SH, Chen PM, Chang SY, Liu CJ, Teng SC, Wu KJ. |
| Nat Cell Biol. 2008 Mar;10(3):295-305. Epub 2008 Feb 24. |
| PMID 18297062 |
| Short interfering RNA directed against TWIST, a novel zinc finger transcription factor, increases A549 cell sensitivity to cisplatin via MAPK/mitochondrial pathway. |
| Zhuo WL, Wang Y, Zhuo XL, Zhang YS, Chen ZT. |
| Biochem Biophys Res Commun. 2008 May 16;369(4):1098-102. Epub 2008 Mar 10. |
| PMID 18331824 |
| Stem cell and epithelial-mesenchymal transition markers are frequently overexpressed in circulating tumor cells of metastatic breast cancer patients. |
| Aktas B, Tewes M, Fehm T, Hauch S, Kimmig R, Kasimir-Bauer S. |
| Breast Cancer Res. 2009;11(4):R46. Epub 2009 Jul 9. |
| PMID 19589136 |
| A twist of insight - the role of Twist-family bHLH factors in development. |
| Barnes RM, Firulli AB. |
| Int J Dev Biol. 2009;53(7):909-24. |
| PMID 19378251 |
| Epithelial-mesenchymal transition markers in pancreatic ductal adenocarcinoma. |
| Cates JM, Byrd RH, Fohn LE, Tatsas AD, Washington MK, Black CC. |
| Pancreas. 2009 Jan;38(1):e1-6. |
| PMID 18766116 |
| Effects of small interfering RNAs targeting Fascin on gene expression in oral cancer cells. |
| Chen SF, Lin CY, Chang YC, Li JW, Fu E, Chang FN, Lin YL, Nieh S. |
| J Oral Pathol Med. 2009 Oct;38(9):722-30. Epub 2009 Apr 15. |
| PMID 19473443 |
| SFRP1 and SFRP2 suppress the transformation and invasion abilities of cervical cancer cells through Wnt signal pathway. |
| Chung MT, Lai HC, Sytwu HK, Yan MD, Shih YL, Chang CC, Yu MH, Liu HS, Chu DW, Lin YW. |
| Gynecol Oncol. 2009 Mar;112(3):646-53. Epub 2008 Dec 18. |
| PMID 19095296 |
| A novel lung metastasis signature links Wnt signaling with cancer cell self-renewal and epithelial-mesenchymal transition in basal-like breast cancer. |
| DiMeo TA, Anderson K, Phadke P, Fan C, Perou CM, Naber S, Kuperwasser C. |
| Cancer Res. 2009 Jul 1;69(13):5364-73. Epub 2009 Jun 23. |
| PMID 19549913 |
| Gene expression profiling in TWIST-depleted gastric cancer cells. |
| Feng MY, Wang K, Shi QT, Yu XW, Geng JS. |
| Anat Rec (Hoboken). 2009 Feb;292(2):262-70. |
| PMID 19051271 |
| The expression of Twist has an impact on survival in human bladder cancer and is influenced by the smoking status. |
| Fondrevelle ME, Kantelip B, Reiter RE, Chopin DK, Thiery JP, Monnien F, Bittard H, Wallerand H. |
| Urol Oncol. 2009 May-Jun;27(3):268-76. Epub 2008 Apr 28. |
| PMID 18440840 |
| Inhibition of Akt activity induces the mesenchymal-to-epithelial reverting transition with restoring E-cadherin expression in KB and KOSCC-25B oral squamous cell carcinoma cells. |
| Hong KO, Kim JH, Hong JS, Yoon HJ, Lee JI, Hong SP, Hong SD. |
| J Exp Clin Cancer Res. 2009 Feb 26;28:28. |
| PMID 19243631 |
| Prognostic significance of hypoxia-inducible factor-1 alpha, TWIST1 and Snail expression in resectable non-small cell lung cancer. |
| Hung JJ, Yang MH, Hsu HS, Hsu WH, Wu KJ. |
| Thorax. 2009 Sep 23. [Epub ahead of print] |
| PMID 19778933 |
| Assessment of DNA methylation for the detection of cervical neoplasia in liquid-based cytology specimens. |
| Kim JH, Choi YD, Lee JS, Lee JH, Nam JH, Choi C. |
| Gynecol Oncol. 2009 Oct 14. [Epub ahead of print] |
| PMID 19836067 |
| The Axl receptor tyrosine kinase confers an adverse prognostic influence in pancreatic cancer and represents a new therapeutic target. |
| Koorstra JB, Karikari CA, Feldmann G, Bisht S, Rojas PL, Offerhaus GJ, Alvarez H, Maitra A. |
| Cancer Biol Ther. 2009 Apr;8(7):618-26. Epub 2009 Apr 22. |
| PMID 19252414 |
| Twist1-mediated adriamycin-induced epithelial-mesenchymal transition relates to multidrug resistance and invasive potential in breast cancer cells. |
| Li QQ, Xu JD, Wang WJ, Cao XX, Chen Q, Tang F, Chen ZQ, Liu XP, Xu ZD. |
| Clin Cancer Res. 2009 Apr 15;15(8):2657-65. Epub 2009 Mar 31. |
| PMID 19336515 |
| Twist expression promotes migration and invasion in hepatocellular carcinoma. |
| Matsuo N, Shiraha H, Fujikawa T, Takaoka N, Ueda N, Tanaka S, Nishina S, Nakanishi Y, Uemura M, Takaki A, Nakamura S, Kobayashi Y, Nouso K, Yagi T, Yamamoto K. |
| BMC Cancer. 2009 Jul 18;9:240. |
| PMID 19615090 |
| Negative regulation of TIMP1 is mediated by transcription factor TWIST1. |
| Okamura H, Yoshida K, Haneji T. |
| Int J Oncol. 2009 Jul;35(1):181-6. |
| PMID 19513566 |
| Programmed cell death protein 4 down-regulates Y-box binding protein-1 expression via a direct interaction with Twist1 to suppress cancer cell growth. |
| Shiota M, Izumi H, Tanimoto A, Takahashi M, Miyamoto N, Kashiwagi E, Kidani A, Hirano G, Masubuchi D, Fukunaka Y, Yasuniwa Y, Naito S, Nishizawa S, Sasaguri Y, Kohno K. |
| Cancer Res. 2009a Apr 1;69(7):3148-56. Epub 2009 Mar 24. |
| PMID 19318582 |
| Castration resistance of prostate cancer cells caused by castration-induced oxidative stress through Twist1 and androgen receptor overexpression. |
| Shiota M, Yokomizo A, Tada Y, Inokuchi J, Kashiwagi E, Masubuchi D, Eto M, Uchiumi T, Naito S. |
| Oncogene. 2009b Oct 5. [Epub ahead of print] |
| PMID 19802001 |
| TWIST1 overexpression is associated with nodal invasion and male sex in primary colorectal cancer. |
| Valdes-Mora F, Gomez del Pulgar T, Bandres E, Cejas P, Ramirez de Molina A, Perez-Palacios R, Gallego-Ortega D, Garcia-Cabezas MA, Casado E, Larrauri J, Nistal M, Gonzalez-Baron M, Garcia-Foncillas J, Lacal JC. |
| Ann Surg Oncol. 2009 Jan;16(1):78-87. Epub 2008 Nov 11. |
| PMID 19002529 |
| Changes in the expression of E-cadherin repressors, Snail, Slug, SIP1, and Twist, in the development and progression of ovarian carcinoma: the important role of Snail in ovarian tumorigenesis and progression. |
| Yoshida J, Horiuchi A, Kikuchi N, Hayashi A, Osada R, Ohira S, Shiozawa T, Konishi I. |
| Med Mol Morphol. 2009 Jun;42(2):82-91. Epub 2009 Jun 18. |
| PMID 19536615 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 11-2009 | Fátima Valdés-Mora, Teresa Gómez del Pulgar, Juan Carlos Lacal |
| Garvan Institute of Medical Research, Sydney 2010, New South Wales, Australia (FVM); Centro Nacional de Biotecnologia, C/ Darwin, 3. Campus Cantoblanco, 28049 Madrid, Spain (TGdP, JCL) |
| Citation |
| This paper should be referenced as such : |
| Valdés-Mora F, Gómez del Pulgar T, Lacal JC . TWIST1 (twist homolog 1 (Drosophila)). Atlas Genet Cytogenet Oncol Haematol. November 2009 . |
| URL : http://AtlasGeneticsOncology.org/Genes/TWIST1ID44296ch7p21.html |
The various updated versions of this paper are referenced and archived by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/44846/1/11-2009-TWIST1ID44296ch7p21.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Apr 18 17:16:56 CEST 2014 |
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