Epilepsy and preventive antiepileptic treatment in tuberous sclerosis complex. Literature review by I. Kasiulevičiūtė

“…The pathogenic mutation is found in either the TSC1 or TSC2 tumor suppressor genes. The presence of cortical or subcortical tubers is associated with focal epileptiform discharges on the electroencephalogram and subclinical seizures prior to the onset of clinical seizures. …”
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Сandidate SNP-markers of rheumatoid arthritis that can significantly alter the affinity of the TATA-binding protein for human gene promoters by I. V. Chadaeva, D. A. Rasskazov, E. B. Sharypova, I. A. Drachkova, E. A. Oshchepkova, L. K. Savinkova, P. M. Ponomarenko, M. P. Ponomarenko, N. A. Kolchanov, V. A. Kozlov

“…At the same time, against the background of such increased activity of effector lymphocytes, a decrease in the activity of a number of regulatory cells, including regulatory T-cells (Treg) and myeloid suppressor cells, is recorded. There is reason to say that it is the change in the activity of suppressor cells that is the leading element in RA pathogenesis. …”
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Genetic factors for breast carcinogenesis by Pedro Enrique Miguel-Soca, Ivis Argüelles González, Marisol Peña González

“…Breast cancer is a multifactorial genenetic disease in which oncogenes derived from normal cellular genes intervene, which constitute positive signals of cellular proliferation and tumour suppressor genes and represent negative signals of cells multiplication and differentiation. …”
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BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts by Asta Björk Jonsdottir, Maaike P. G. Vreeswijk, Ron Wolterbeek, Peter Devilee, Hans J. Tanke, Jorunn E. Eyfjörd, Karoly Szuhai

“…Background: Inherited mutations in the tumour suppressor gene BRCA2 greatly increase the risk of developing breast, ovarian and other types of cancers. …”
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Plakoglobin: Role in Tumorigenesis and Metastasis by Zackie Aktary, Manijeh Pasdar

“…However, unlike β-catenin that has well-documented oncogenic potential through its involvement in the Wnt signaling pathway, plakoglobin generally acts as a tumor/metastasis suppressor. The exact roles that plakoglobin plays during tumorigenesis and metastasis are not clear; however, recent evidence suggests that it may regulate gene expression, cell proliferation, apoptosis, invasion, and migration. …”
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Familial Aggregation of Urinary Tract and Bone Tumors: Searching for a Syndrome by Andreas Frings, Jochen B. Geigl, Bernadette Liegl-Atzwanger, Andreas Leithner

“…To confirm Li-Fraumeni syndrome, we set out to investigate this case by analyzing the tumor suppressor gene p53. However, taking into account all the diagnostic results obtained, Li-Fraumeni syndrome could not be confirmed, but there is still uncertainty regarding a definitive diagnosis.…”
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PTEN Sequence Analysis in Endometrial Hyperplasia and Endometrial Carcinoma in Slovak Women by H. Gbelcová, P. Bakeš, P. Priščáková, V. Šišovský, I. Hojsíková, Ľ. Straka, M. Konečný, J. Markus, C. W. D’Acunto, T. Ruml, D. Böhmer, Ľ. Danihel, V. Repiská

“…Phosphatase and tensin homolog (PTEN) is a protein that acts as a tumor suppressor by dephosphorylating the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. …”
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MDM4 Isoform Expression in Melanoma Supports an Oncogenic Role for MDM4-A by Abdullah Alatawi, SoonJye Kho, Michael P. Markey

“…The p53 tumor suppressor integrates upstream signals such as DNA damage and active oncogenes to initiate cell cycle arrest or apoptosis. …”
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Nongenomic Mechanisms of PTEN Regulation by Jimmie E. Fata, Shawon Debnath, Edmund C. Jenkins, Marcia V. Fournier

“…A large amount of data supports the view that PTEN is a bona fide tumor suppressor gene. However, recent evidence suggests that derailment of cellular localization and expression levels of functional nonmutated PTEN is a determining force in inducing abnormal cellular and tissue outcomes. …”
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Preclinical Studies of Chemotherapy Using Histone Deacetylase Inhibitors in Endometrial Cancer by Noriyuki Takai, Hisashi Narahara

“…Because epigenetic alterations are believed to be involved in the repression of tumor suppressor genes and promotion of tumorigenesis in endometrial cancers, novel compounds endowed with a histone deacetylase (HDAC) inhibitory activity are an attractive therapeutic approach. …”
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Cell-Specific Dual Role of Caveolin-1 in Pulmonary Hypertension by Rajamma Mathew

“…Caveolin-1, also known as a tumor-suppressor factor, interacts with a number of transducing molecules that reside in or are recruited to caveolae, and it inhibits cell proliferative pathways. …”
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Aneuploidy Mechanisms in Human Colorectal Preneoplastic Lesions and Barrett’s Esophagus. Is There a Role for K-Ras and p53 Mutations? by Walter Giaretti

“…It appears that aneuploidy is linked with specific gene mutations, i.e., of the tumour suppressor gene p53 in chronic ulcerative colitis and in Barrett’s esophagus, and of the protooncogene K‐ras in colorectal adenomas. …”
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Long-Term Remission of a Spinal Atypical Teratoid Rhabdoid Tumor in Response to Intensive Multimodal Therapy by Fahd Refai, Haneen Al-Maghrabi, Hassan Al Trabolsi, Jaudah Al-Maghrabi

“…Provided clinical and diagnostic suspicion is high, the histopathological diagnosis is relatively straightforward to secure by testing for the characteristic loss of the tumor suppressor protein SMARCB1/INI1. Here, we describe a case of thoracic spinal ATRT in a three-year-old boy that showed characteristic aggressive progression until managed with intensive multimodal therapy to achieve durable long-term remission. …”
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Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 1 by Grzegorz Piecha, Jerzy Chudek, Andrzej Więcek

“…This syndrome is caused by a germline mutation in MEN-1 gene encoding a tumour-suppressor protein, menin. Primary hyperparathyroidism is the most frequent clinical presentation of MEN-1, which usually appears in the second decade of life as an asymptomatic hypercalcemia and progresses through the next decades. …”
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Outside-in engineering of cadherin endocytosis using a conformation strengthening antibody by Bin Xie, Shipeng Xu, Sanjeevi Sivasankar

“…Formation of stable X-dimers results in the phosphorylation of p120-catenin, a suppressor of cadherin endocytosis. This triggers the dissociation of p120-catenin from the X-dimer cytoplasmic region, which increases P-cadherin turnover and targets the cadherin-antibody complex to the lysosome. …”
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Research progress of HIF-1a on immunotherapy outcomes in immune vascular microenvironment by Shaoyan Shi, Xuehai Ou, Chao Liu, Hao Wen, Jiang Ke

“…HIF-1α regulates critical pathways, including the expression of vascular endothelial growth factor and immune checkpoint upregulation, leading to tumor-infiltrating lymphocyte dysfunction and recruitment of immunosuppressive cells like regulatory T cells and myeloid-derived suppressor cells. These alterations reduce the efficacy of checkpoint inhibitors and other immunotherapies. …”
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Molecular profiling and detection methods of microRNA in cancer research by Nurul-Syakima Ab Mutalib, Imilia Ismail, Hooi-Leng Ser

“…Acting like a “double-edge” sword, miRNAs can control and/or act as tumor suppressor genes and oncogenes, thus any unwanted alterations in their expression would bring upon disastrous effects on the host. …”
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A Study of Epstein-Barr Virus BRLF1 Activity in a Drosophila Model System by Amy Adamson, Dennis LaJeunesse

“…Via our GMR-R model system, we have found that BRLF1 expression results in overproliferation of fly tissue, unlike BZLF1, and does so through the interaction with known tumor suppressor genes. Through an additional genetic screen, we have identified several Drosophila genes, with human homologs, that may offer further insights into the pathways that BRLF1 interacts with in order to promote EBV replication.…”
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Expression of LGI1 Impairs Proliferation and Survival of HeLa Cells by Nadia Gabellini, Valentina Masola

“…The LGI1 gene was suggested to function as tumor suppressor for its ability to reduce malignant features of glioblastoma cells. …”
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Tumor-Related Exosomes Contribute to Tumor-Promoting Microenvironment: An Immunological Perspective by Wuzhen Chen, Jingxin Jiang, Wenjie Xia, Jian Huang

“…They can interfere with the maturation of DC cells, impair NK cell activation, induce myeloid-derived suppressor cells, and educate macrophages into protumor phenotype. …”
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