SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus

Wang, Zhengdong; Yan, Nan; Liu, Liying; Cao, Deliang; Gao, Ming; Lin, Chen; Jin, Chen

doi:10.3892/mmr.2012.1245

Cited by 8 publications

(10 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… [ 29 ] Gurnett et al (2009) 31 patients (five with familial vertical talus, 20 with familial clubfoot, and six with DA1 TNNT3, MYH3, TPM2 Although mutations in MYH3, TNNT3, and TPM2 are frequently associated with distal arthrogryposis syndromes, they were not present in patients with familial vertical talus or clubfoot. [ 30 ] Wang et al (2013) Abductor hallucis muscle samples were obtained from 15 ICTEV patients. Peripheral blood samples were obtained from 84 ICTEV patients SOX 9 mRNA and protein expression levels of SOX9 were detected through real-time polymerase chain reaction and western blot analysis, respectively and were found to be significantly higher in ICTEV muscle samples compared with those in control samples [ 31 ] Cao et al (2009) Rat ICTEV model HOXD13 – Gli3 Findings suggest that HoxD13 directly interacts with the promoter of Gli3 .…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

The etiology of idiopathic congenital talipes equinovarus: a systematic review

et al. 2018

View full text Add to dashboard Cite

BackgroundAlso known as clubfoot, idiopathic congenital talipes equinovarus (ICTEV) is the most common pediatric deformity and occurs in 1 in every 1000 live births. Even though it has been widely researched, the etiology of ICTEV remains poorly understood and is often described as being based on a multifactorial genesis. Genetic and environmental factors seem to have a major role in the development of this disease. Thus, the aim of this review is to analyze the available literature to document the current evidence on ICTEV etiology.MethodsThe literature on ICTEV etiology was systematically reviewed using the following inclusion criteria: studies of any level of evidence, reporting clinical or preclinical results, published in the last 20 years (1998–2018), and dealing with the etiology of ICTEV.ResultsA total of 48 articles were included. ICTEV etiology is still controversial. Several hypotheses have been researched, but none of them are decisive. Emerging evidence suggests a role of several pathways and gene families associated with limb development (HOX family; PITX1-TBX4), the apoptotic pathway (caspases), and muscle contractile protein (troponin and tropomyosin), but a major candidate gene has still not been identified. Strong recent evidence emerging from twin studies confirmed major roles of genetics and the environment in the disease pathogenesis.ConclusionsThe available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although many studies focus on the genetic background of the disease, there is lack of consensus on one or multiple targets. Genetics and smoking seem to be strongly associated with ICTEV etiology, but more studies are needed to understand the complex and multifactorial genesis of this common congenital lower-limb disease.

show abstract

Section: Resultsmentioning

confidence: 99%

“…Based on previous studies, Wang et al [ 30 ] investigated genes that regulate COL91A1 expression (SOX9) in 2012. They reported no mutations of the gene but a higher expression of SOX9 in the muscular cells of ICTEV patients.…”

Section: Resultsmentioning

confidence: 99%

The etiology of idiopathic congenital talipes equinovarus: a systematic review

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Transcription factor and gene target data derived from the ENCODE ChIP-seq data. The peak intensity signal <500 and the predicted regulatory potential score <1 used the BETA Minus algorithm (Wang et al, 2013a;Wang et al, 2013b). TF-miRNA coregulatory network analysis was performed using curated regulatory interaction information collected from the RegNetwork repository (Liu et al, 2015).…”

Section: Networkanalyst Analysismentioning

confidence: 99%

“…Clubfoot is associated with neuromuscular lesions, heredity abnormalities, skeletal dysplasia, soft tissue contracture, vascular abnormalities, ECM abnormalities, and intrauterine growth retardation (Chesney, Barker & Maffulli, 2007;Eckhardt et al, 2019;Miedzybrodzka, 2003;Ošt'ádal et al, 2015;Poon, Li & Alman, 2009;Sodre et al, 1990;Wang et al, 2013a;Wang et al, 2013b). In addition, smoking and viral infections in pregnant women are also closely related to congenital clubfoot (Palma et al, 2013;Robertson Jr & Corbett, 1997).…”

Section: Introductionmentioning

confidence: 99%

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot

Cai

Yang

Chen

et al. 2020

PeerJ

View full text Add to dashboard Cite

Background As one of the most common major congenital distal skeletal abnormalities, congenital talipes equinovarus (clubfoot) affects approximately one in one thousandth newborns. Although several etiologies of clubfoot have been proposed and several genes have been identified as susceptible genes, previous studies did not further explore signaling pathways and potential upstream and downstream regulatory networks. Therefore, the aim of the present investigation is to explore abnormal pathways and their interactions in clubfoot using integrated bioinformatics analyses. Methods KEGG, gene ontology (GO), Reactome (REAC), WikiPathways (WP) or human phenotype ontology (HP) enrichment analysis were performed using WebGestalt, g:Profiler and NetworkAnalyst. Results A large number of signaling pathways were enriched e.g. signal transduction, disease, metabolism, gene expression (transcription), immune system, developmental biology, cell cycle, and ECM. Protein-protein interactions (PPIs) and gene regulatory networks (GRNs) analysis results indicated that extensive and complex interactions occur in these proteins, enrichment pathways, and TF-miRNA coregulatory networks. Transcription factors such as SOX9, CTNNB1, GLI3, FHL2, TGFBI and HOXD13, regulated these candidate proteins. Conclusion The results of the present study supported previously proposed hypotheses, such as ECM, genetic, muscle, neurological, skeletal, and vascular abnormalities. More importantly, the enrichment results also indicated cellular or immune responses to external stimuli, and abnormal molecular transport or metabolism may be new potential etiological mechanisms of clubfoot.

show abstract

“…Divergent results have also been obtained in the case of the SOX9 protein. For instance, a reduction in its expression in glioma cells resulted in the inhibition of cell proliferation, while in melanoma the opposite effect (an increased proliferation) could be observed [48][49][50]. The expression levels and mechanisms of SOX2/9 proteins are highly correlated with their role in the cell cycle and the proliferation of cancer cells.…”

Section: Sox Protein Familymentioning

confidence: 99%

Role of SOX Protein Groups F and H in Lung Cancer Progression

Olbromski¹,

Podhorska‐Okołów

Dzięgiel

2020

Cancers

View full text Add to dashboard Cite

The SOX family proteins are proved to play a crucial role in the development of the lymphatic ducts and the cardiovascular system. Moreover, an increased expression level of the SOX18 protein has been found in many malignances, such as melanoma, stomach, pancreatic breast and lung cancers. Another SOX family protein, the SOX30 transcription factor, is responsible for the development of male germ cells. Additionally, recent studies have shown its proapoptotic character in non-small cell lung cancer cells. Our preliminary studies showed a disparity in the amount of mRNA of the SOX18 gene relative to the amount of protein. This is why our attention has been focused on microRNA (miRNA) molecules, which could regulate the SOX18 gene transcript level. Recent data point to the fact that, in practically all types of cancer, hundreds of genes exhibit an abnormal methylation, covering around 5–10% of the thousands of CpG islands present in the promoter sequences, which in normal cells should not be methylated from the moment the embryo finishes its development. It has been demonstrated that in non-small-cell lung cancer (NSCLC) cases there is a large heterogeneity of the methylation process. The role of the SOX18 and SOX30 expression in non-small-cell lung cancers (NSCLCs) is not yet fully understood. However, if we take into account previous reports, these proteins may be important factors in the development and progression of these malignancies.

show abstract

SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus

Cited by 8 publications

References 26 publications

The etiology of idiopathic congenital talipes equinovarus: a systematic review

The etiology of idiopathic congenital talipes equinovarus: a systematic review

Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot

Role of SOX Protein Groups F and H in Lung Cancer Progression

Contact Info

Product

Resources

About