Abstract:
:Oral cancer is a serious disease caused by environmental factors and/or susceptible genes. In the present study, in order to identify useful genetic biomarkers for cancer prediction and prevention, and for personalized treatment, we detected somatic mutations in 5 pairs of oral cancer tissues and blood samples using whole exome sequencing (WES). Finally, we confirmed a novel nonsense single-nucleotide polymorphism (SNP; chr19:15288426A>C) in the NOTCH3 gene with sanger sequencing, which resulted in a N1438T mutation in the protein sequence. Using multiple in silico analyses, this variant was found to mildly damaging effects on the NOTCH3 gene, which was supported by the results from analyses using PANTHER, SNAP and SNPs&GO. However, further analysis using Mutation Taster revealed that this SNP had a probability of 0.9997 to be 'disease causing'. In addition, we performed 3D structure simulation analysis and the results suggested that this variant had little effect on the solubility and hydrophobicity of the protein and thus on its function; however, it decreased the stability of the protein by increasing the total energy following minimization (-1,051.39 kcal/mol for the mutant and -1,229.84 kcal/mol for the native) and decreasing one stabilizing residue of the protein. Less stability of the N1438T mutant was also supported by analysis using I-Mutant with a DDG value of -1.67. Overall, the present study identified and confirmed a novel mutation in the NOTCH3 gene, which may decrease the stability of NOTCH3, and may thus prove to be helpful in cancer prognosis.
journal_name
Int J Mol Medjournal_title
International journal of molecular medicineauthors
Yi Y,Tian Z,Ju H,Ren G,Hu Jdoi
10.3892/ijmm.2017.2965subject
Has Abstractpub_date
2017-06-01 00:00:00pages
1541-1547issue
6eissn
1107-3756issn
1791-244Xjournal_volume
39pub_type
杂志文章abstract::We studied whether feeding pregnant female mice with different fats affects lipid exchange and activity of the splenic lymphoid system in offspring exposed to low doses of carcinogen. Female mice were fed diets with either 7% or 15% corn oil or olive oil. The 4-week-old offspring of these mice were transferred to a ch...
journal_title:International journal of molecular medicine
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journal_title:International journal of molecular medicine
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abstract::Acute lymphoblastic leukemia (ALL), which involves the blood and bone marrow, is the most common type of cancer in children younger than 5 years of age. Previous studies have investigated the effects of centipedegrass extract (CGE), which is mainly composed of maysin and its derivatives, and have demonstrated that it ...
journal_title:International journal of molecular medicine
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abstract::Atherosclerosis is now considered a chronic inflammatory disease, and glucosamine has the potential to exhibit an anti-inflammatory action. Thus, we investigated the effect of glucosamine on tumor necrosis factor alpha (TNF-alpha)-induced endothelial cell activation. Human umbilical vein endothelial cells (HUVECs) wer...
journal_title:International journal of molecular medicine
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journal_title:International journal of molecular medicine
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abstract::Alopecia is known as a symptom of acute radiation, yet little is known concerning the mechanism of this phenomenon and the alteration of hair protein profiles. To examine this, 6-week-old male C57/BL6 mice were exposed to 6 Gy of X-ray irradiation, which caused acute alopecia. Their hair and skin were collected, and h...
journal_title:International journal of molecular medicine
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abstract::Cutaneous melanoma is very aggressive and results in high mortality rates for cancer patients. Determining molecular targets is important for developing novel therapies for cutaneous melanoma. Cell division cycle associated 8 (CDCA8) is a putative oncogene that is upregulated in multiple types of cancer. The present s...
journal_title:International journal of molecular medicine
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doi:10.3892/ijmm.2018.3985
更新日期:2019-01-01 00:00:00
abstract::The isolation of rare cells, such as fetal nucleated red blood cells and trophoblasts, from maternal blood for non-invasive prenatal diagnosis is a new field of research exhibiting several difficulties since this strategy requires unresolved basic technological protocols for a successful outcome. However, several achi...
journal_title:International journal of molecular medicine
pub_type: 杂志文章,评审
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更新日期:2008-01-01 00:00:00
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journal_title:International journal of molecular medicine
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更新日期:2010-05-01 00:00:00
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journal_title:International journal of molecular medicine
pub_type: 杂志文章
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更新日期:2001-03-01 00:00:00
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journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm_00000373
更新日期:2010-04-01 00:00:00
abstract::Human CD46 was identified as a complement regulator and was later shown to be a measles virus receptor. The ubiquitous distribution profile of CD46 accounted for systemic measles infection and general protection of host tissue/organs from autologous complement. A similar ubiquitous distribution was observed for swine ...
journal_title:International journal of molecular medicine
pub_type: 杂志文章,评审
doi:10.3892/ijmm.1.5.809
更新日期:1998-05-01 00:00:00
abstract::Periodontitis is the main cause of tooth or tissue loss. Human periodontal ligament stem cells (hPDLSCs), which have high proliferative, self‑renewal and multi‑differentiation abilities, are vital for the restoration of periodontitis‑induced injuries. The anti‑inflammatory and anti‑apoptotic agent, tetramethylpyrazine...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2020.4554
更新日期:2020-06-01 00:00:00
abstract::Atrial natriuretic peptide (ANP) is a regulatory hormone widely expressed, along with its receptors, in organs and body tissues. ANP is well known to inhibit aldosterone secretion from mammalian adrenals, but its effect on glucocorticoid-hormone production is controversial. In vivo experiments showed that prolonged AN...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2006-04-01 00:00:00
abstract::The efficacy of the most commonly used form of suicide gene therapy, the HSV-TK/GCV method, utilizing herpes simplex virus thymidine kinase (HSV-TK) and antiviral drug ganciclovir (GCV) has been demonstrated in clinical trials. However, safer delivery of the therapeutic gene and more controlled regulation of the trans...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2006-11-01 00:00:00
abstract::The increased expression of sialyl-Lewisx (SLex) epitope on the surface of tumor cells has been known for decades. However, genetic manipulation of the expression of SLex and the role of SLex in cancer cell proliferation remains to be fully elucidated. The present study suggested that the monoclonal antibody of SLex (...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2018.3850
更新日期:2018-11-01 00:00:00
abstract::A substantial increase in NADH production, arising from accelerated glycolysis, occurs in cardiac hypertrophy and this raises the question of how the NADH is oxidised. We have addressed this problem by reconstructing appropriate mitochondrial shuttles in vitro, using mitochondria from the left ventricles of both normo...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2006-07-01 00:00:00
abstract::Type 2 cytokine‑associated immunity may be involved in the pathogenesis of allergic asthma. Although interleukin 27 (IL‑27) has been reported as an initiator and suppressor of T‑helper 1 (Th1) and T‑helper 2 (Th2) responses, respectively, its effects on the development of asthma remain unclear. In the present study, m...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2020.4622
更新日期:2020-08-01 00:00:00
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journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2018.3943
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journal_title:International journal of molecular medicine
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journal_title:International journal of molecular medicine
pub_type: 杂志文章
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journal_title:International journal of molecular medicine
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doi:
更新日期:2005-10-01 00:00:00
abstract::Melanin-concentrating hormone (MCH) is known to be an important regulator for feeding and energy balance. MCH was recently reported to stimulate water intake independent of food intake. The purpose of the present study is to examine the dipsogenic response of MCH with special emphasis on sweetened beverages, the prefe...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2005-06-01 00:00:00
abstract::Mutations in mitochondrial DNA (mtDNA) are a major cause of hearing loss. In this study, we performed a systematic mutational screening of the 12S rRNA, tRNA Ser(UCN), tRNA Lys and tRNA Leu(UUR) genes in 227 unrelated patients with nonsyndromic hearing impairment for the first time in a Korean population. We found two...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2008-08-01 00:00:00
abstract::The aetiological agent of chronic hepatitis C is the hepatitis C virus. The hepatitis C virus is spread by parenteral transmission of body fluids, primarily blood or blood products. In 1989, after more than a decade of research, HCV was isolated and characterised. The hepatitis C viral genome is a positive-sense, sing...
journal_title:International journal of molecular medicine
pub_type: 杂志文章,评审
doi:
更新日期:2002-02-01 00:00:00
abstract::Gene therapy is becoming an important treatment modality against various diseases including cancer, genetic disorders, infectious diseases and inflammatory diseases. For achieving successful gene therapy, it is extremely important to control the expression of a transduced therapeutic gene. However, there have been few...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:
更新日期:2002-07-01 00:00:00
abstract::Evidence has indicated that mesenchymal stem cells (MSCs) harvested with the Reamer/Irrigator/Aspirator (RIA) procedure exhibited an improved osteogenic differentiation capability compared with MSCs obtained by bone marrow aspiration from the iliac crest. In the present study, we hypothesized that the harvest procedur...
journal_title:International journal of molecular medicine
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journal_title:International journal of molecular medicine
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更新日期:2017-09-01 00:00:00
abstract::The prognosis for patients with metastatic bladder cancer (BCa) is poor, and has not been improved by current treatment methods. Long noncoding RNAs (lncRNAs) are involved in the pathology of various tumors, including bladder cancer. However, the role of zinc finger E‑box‑binding homeobox 1‑antisense 1 (ZEB1‑AS1) in B...
journal_title:International journal of molecular medicine
pub_type: 杂志文章
doi:10.3892/ijmm.2019.4187
更新日期:2019-07-01 00:00:00