Search results for: SFMBT1
#38817124 2024/05/31 To Up
Developing a predictive model for metastatic potential in pancreatic neuroendocrine tumor.
Pancreatic neuroendocrine tumors (PNETs) exhibit a wide range of behavior from localized disease to aggressive metastasis. A comprehensive transcriptomic profile capable of differentiating between these phenotypes remains elusive.Jacques A Greenberg, Yajas Shah, Nikolay A Ivanov, Teagan Marshall, Scott Kulm, Jelani Williams, Catherine Tran, Theresa Scognamiglio, Jonas J Heymann, Yeon Joo Lee-Saxton, Caitlin Egan, Sonali Majumdar, Irene M Min, Rasa Zarnegar, James Howe, Xavier M Keutgen, Thomas J Fahey Iii, Olivier Elemento, Brendan M Finnerty
1946 related Products with: Developing a predictive model for metastatic potential in pancreatic neuroendocrine tumor.
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#38351558 // To Up
[Epidemiology, Natural History, and Genetic Factors of Idiopathic Normal Pressure Hydrocephalus].
According to a cohort study in a Japanese rural area, the prevalence of idiopathic normal pressure hydrocephalus (iNPH) in the 80s was 7.7% among the older inhabitants, despite only a small percentage of the population seeking consultation. The 16-year observation of the cohort revealed that people were in the state of asymptomatic ventriculomegaly with features of iNPH on magnetic resonance imaging or asymptomatic ventricular enlargement several years before presenting symptoms and intracranial changes of iNPH. SFMBT1 was found to be a risk gene for iNPH, and investigating these risk genes will further the study of iNPH pathophysiology.Chifumi Iseki
1024 related Products with: [Epidemiology, Natural History, and Genetic Factors of Idiopathic Normal Pressure Hydrocephalus].
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#38266794 2024/01/23 To Up
COVID-19 plasma induces subcellular remodelling within the pulmonary microvascular endothelium.
COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can affect multiple organ systems, including the pulmonary vasculature. Endothelial cells (ECs) are thought to play a key role in the propagation of COVID-19, however, our understanding of the exact scale of dysregulation sustained by the pulmonary microvasculature (pMV) remains incomplete. Here we aim to identify transcriptional, phenotypic, and functional changes within the pMV induced by COVID-19.Rainha Passi, Justyna Cholewa-Waclaw, Ryan Wereski, Matthew Bennett, Stefan Veizades, Bronwyn Berkeley, Andrea Caporali, Ziwen Li, Julie Rodor, Mieke Dewerchin, Nicholas L Mills, Abdelaziz Beqqali, Mairi Brittan, Andrew H Baker
1361 related Products with: COVID-19 plasma induces subcellular remodelling within the pulmonary microvascular endothelium.
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#35577773 2022/05/16 To Up
SFMBT1 facilitates colon cancer cell metastasis and drug resistance combined with HMG20A.
In colorectal cancer (CRC), the development of reagents that increase sensitivity to chemotherapeutic agents could prevent drug resistance and improve patient survival. Scm-like with four malignant brain tumor domains 1 (SFMBT1) is up-regulated in CRC tumor tissues and cells and may be associated with drug resistance. We detected the expression of SFMBT1 in CRC tissue microarrays by immunohistochemistry. The role of SFMBT1 in the migration, proliferation and invasion of CRC or resistance to 5-fluorouracil (5-FU) was determined using scratch assay, colony formation and Transwell assay. Fluorescence co-localization and immunoprecipitation were used to analyze the correlation between SFMBT1 and high mobility group domain-containing protein 20 A (HMG20A). Xenograft experiments were conducted to investigate the role of SFMBT1 and HMG20A in tumor growth and metastasis in vivo. We found that SFMBT1 is up-regulated in CRC and its expression is further amplified in 5-FU resistance. SFMBT1 drives 5-FU resistance and CRC proliferation, migration and invasion. Correlation analysis shows that SFMBT1 and HMG20A are positively correlated. Mechanistically, fluorescence co-localization and immunoprecipitation assay indicate an interaction between SFMBT1 and HMG20A. Depletion of SFMBT1 down-regulates HMG20A downstream. These results were verified by murine xenograft and lung metastasis models. Our results indicate that the SFMBT1/HMG20A axis could be targeted to increase the resistance of CRC cells to 5-FU.Ruijun Pan, Dingye Yu, Jiajia Hu, Xiao Yang, Chenxing Wang, Luyang Zhang, Pei Xue, Jing Sun, Xiaoping Zhang, Wei Cai
2246 related Products with: SFMBT1 facilitates colon cancer cell metastasis and drug resistance combined with HMG20A.
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#35483874 2022/04/28 To Up
A de novo pathogenic variant identified in a boy with Poland syndrome.
Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial cases have been reported. We report the employment of trio exome investigation and the identification of a heterozygous de novo pathogenic variant in the gene, a transcription factor associated with transcriptional repression during development, in a 14-yr-old boy with Poland syndrome. We further demonstrate by means of cDNA sequencing and western blot analysis that this variant results in exon 10 skipping and a lower concentration of the SFMBT1 wild-type protein. To our knowledge, the heterozygous pathogenic variant identified in association with this condition is novel as it has not been elsewhere described in the literature and it can be incorporated to the limited reported cases published.Andri Miltiadous, Philippos Demetriou, Maria Kyriakou, Petroula Gerasimou, George Herodotou, Agathi Elpidoforou, Yiannos Kyprianou, Maria Iacovou, Jianxiang Chi, Paul Costeas, George A Tanteles
1077 related Products with: A de novo pathogenic variant identified in a boy with Poland syndrome.
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#35400649 // To Up
[Epidemiology of Idiopathic Normal Pressure Hydrocephalus and Hereditary Hydrocephalus].
Several cohort studies in Japan have revealed that the prevalence of idiopathic normal pressure hydrocephalus(iNPH)is around 1.6% among the elderly population(≧ 50 years old). The incidence of iNPH from the Yamagata(Takahata)cohort was 1.2/ 1,000 person-years in the elderly population. Although the Japanese guidelines for iNPH clearly describe the definition of "possible iNPH with MRI support," it is still difficult to find out not only patients with iNPH but also individuals in its preclinical stage with radiological findings of asymptomatic ventriculomegaly with features of iNPH on MRI(AVIM)or asymptomatic ventricular enlargement(AVE). It is assumed that only less than 10% of patients with iNPH were referred to hospitals in Japan. Several genes associated with congenital hydrocephalus have been found, including ciliopathy-related genes that directly affect the ependymal cilia in ventricles. Loss of the copy number of was found to be a risk factor for iNPH. Knowledge about risk genes and their mechanisms in congenital and familial NPH may be a clue for the further understanding of the pathophysiology of iNPH.Chifumi Iseki
1061 related Products with: [Epidemiology of Idiopathic Normal Pressure Hydrocephalus and Hereditary Hydrocephalus].
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#34978167 2022/01/02 To Up
Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression.
Genome-wide association studies have identified 3p21.1 as a robust risk locus for schizophrenia. However, the underlying molecular mechanisms remain elusive. Here a functional regulatory variant (rs2535629) is identified that disrupts CTCF binding at 3p21.1. It is confirmed that rs2535629 is also significantly associated with schizophrenia in Chinese population and the regulatory effect of rs2535629 is validated. Expression quantitative trait loci analysis indicates that rs2535629 is associated with the expression of three distal genes (GLT8D1, SFMBT1, and NEK4) in the human brain, and CRISPR-Cas9-mediated genome editing confirmed the regulatory effect of rs2535629 on GLT8D1, SFMBT1, and NEK4. Interestingly, differential expression analysis of GLT8D1, SFMBT1, and NEK4 suggested that rs2535629 may confer schizophrenia risk by regulating SFMBT1 expression. It is further demonstrated that Sfmbt1 regulates neurodevelopment and dendritic spine density, two key pathological characteristics of schizophrenia. Transcriptome analysis also support the potential role of Sfmbt1 in schizophrenia pathogenesis. The study identifies rs2535629 as a plausibly causal regulatory variant at the 3p21.1 risk locus and demonstrates the regulatory mechanism and biological effect of this functional variant, indicating that this functional variant confers schizophrenia risk by altering CTCF binding and regulating expression of SFMBT1, a distal gene which plays important roles in neurodevelopment and synaptic morphogenesis.Yifan Li, Changguo Ma, Shiwu Li, Junyang Wang, Wenqiang Li, Yongfeng Yang, Xiaoyan Li, Jiewei Liu, Jinfeng Yang, Yixing Liu, Kaiqin Li, Jiao Li, Di Huang, Rui Chen, Luxian Lv, Xiao Xiao, Ming Li, Xiong-Jian Luo
2631 related Products with: Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression.
1000 TESTS/0.65ml100.00 ug0.5 mg2 Pieces/Box100 μg100.00 ug96tests100 300 units100.00 ug10 Inserts of 96 Tips/UniRelated Pathways
#33948156 2021/04/15 To Up
EZH2 is involved in psoriasis progression by impairing miR-125a-5p inhibition of SFMBT1 and leading to inhibition of the TGFβ/SMAD pathway.
In this study, we aimed to decipher the impact of enhancer of zeste homolog 2 (EZH2) in psoriasis as well as the underlying mechanism.Shengming Qu, Zhe Liu, Bing Wang
1244 related Products with: EZH2 is involved in psoriasis progression by impairing miR-125a-5p inhibition of SFMBT1 and leading to inhibition of the TGFβ/SMAD pathway.
0.1ml (1mg/ml)48 assays 96 assays 48 assays48 samples48 assays 96 assaysRelated Pathways
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#33777203 2021/03/16 To Up
Novel VHL substrate targets SFMBT1 and ZHX2 may be important prognostic predictors in patients with ccRCC.
Renal cell carcinoma is one of the most malignant cancers, with limited prognostic prediction system. The present study aimed to determine the prognostic value of novel von Hippel-Lindau (VHL) substrate targets in predicting the outcome of clear cell renal cell carcinoma (ccRCC). A total of 97 patients with ccRCC were enrolled in the present study, and the tissue microarray that was constructed using 97 ccRCC samples was used for immunohistochemical analysis. Univariate and multivariate Cox regression analyses were performed to determine the independent prognostic factors. Reverse transcription-quantitative PCR analysis demonstrated that the mRNA expression levels of scm-like with four malignant brain tumor domains (SFMBT1) and zinc fingers and homeoboxes 2 (ZHX2) were upregulated in cancer tissues compared with adjacent normal tissues. Among the 97 patients with ccRCC, SFMBT1 expression was upregulated in 61.9% (60/97), while ZHX2 expression was upregulated in 52.6% (51/97). Overall survival (OS) and disease-free survival (DFS) analyses indicated that SFMBT1 or ZHX2 alone were of limited predictive value; however, the combined expression of these two targets (high SFMBT1 and high ZHX2 expression, SHZH group) was significantly associated with OS (P=0.0350) and DFS (P=0.0434). In addition, multivariate analysis identified SHZH as an independent prognostic factor in patients with ccRCC. Taken together, these results suggest that SFMBT1 and ZHX2 act as novel substrate targets of VHL and, to the best of our knowledge, the present study was the first to provide insight on the co-expression of these two targets in representing a promising biomarker to predict the outcome of patients with ccRCC.Yufeng Chen, Liangsong Zhu, Song Xue, Jian Shi, Chunfeng He, Qingchuan Zhang
1942 related Products with: Novel VHL substrate targets SFMBT1 and ZHX2 may be important prognostic predictors in patients with ccRCC.
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