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1.
Artigo em Inglês | MEDLINE | ID: mdl-33822432

RESUMO

Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). In this study, we identified and characterized a novel SINE-VNTR-Alu (SVA) insertion in exon 12 of MSH2 in an individual with early-onset colorectal cancer and a very strong LS family history. RT-PCR analysis indicated a larger aberrant MSH2 transcript in one of the family members. MSK-IMPACT next-generation sequencing and long-range PCR analyses revealed an insertion in MSH2 exon 12 at the c.1972 position in an antisense orientation. The insertion was further characterized as an SVA element approximately 3 kb in length, belonging to the SVA_F1 family of retrotransposons. This variant also segregated with LS related cancers in four affected family members in this family. Based on this evidence, this MSH2 SVA insertion is considered pathogenic. This article is protected by copyright. All rights reserved.

2.
Nanotechnology ; 32(26): 265603, 2021 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-33843659

RESUMO

Core-shell nanocomposites with a catalytic metal-organic framework (MOF) shell are more effective and stable than bare MOF. We have successfully designed an effective heterogeneous catalyst for the synthesis of benzimidazole by integrating acidic catalytic activity, and promoted the aerobic oxidation and magnetic recyclability of core-shell nanocomposite Fe3O4@SiO2@UiO-66. The Fe3O4@SiO2 core is encapsulated by the in situ-grown UiO-66 shell, and the UiO-66 shell retains the porous structure and crystallinity of UiO-66 with abundant exposed Lewis acid sites. It shows high catalytic ability for the synthesis of various benzimidazoles through the acid-catalyzed condensation and aerobic oxidation with in situ oxygen. The Fe3O4@SiO2 core provides magnetic recyclability of Fe3O4@SiO2@UiO-66, and maintains high catalytic ability and stability over six cycles.

3.
J Colloid Interface Sci ; 594: 186-194, 2021 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-33756364

RESUMO

In this study, we have introduced a facile, effective and low-cost process of in-situ vulcanization for preparing α-MnS@C composite via simple calcination-thermolysis of one manganese coordination polymer (CP-1-ZX). In this procedure, the 1D chain [-Mn-SO4-]∞ in CP-1-ZX is completely reduced into α-MnS by the as-synthesized carbon. So the in-situ vulcanization provides an atom-economy route to fabricate sulfides by using least synthetic steps and sulfur sources. The α-MnS@C composite maintains the microball morphology of CP-1-ZX precursor, which is composed of many core-shell nanoparticles. Due to high porosity, hierarchical pores and good conductivity, the specific capacitance of α-MnS@C is up to 856F g-1 at 0.5 A g-1, and keeps 82% retention after 5000 cycles. Meanwhile, one asymmetric supercapacitor cell (ASC) is assembled by combining α-MnS@C with commercial active carbon (AC). The α-MnS@C//AC device delivers prominent energy density of 28.4 Wh kg-1 at power density of 395 W kg-1, and still retains 17.8 Wh kg-1 at 8020 W kg-1. Furthmore, four tandem ASC devices can brightly glow a lamp bulb for 30 s. Therefore, the α-MnS@C composite shows great applications in supercapacitors.

4.
Environ Res ; 197: 111057, 2021 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-33757825

RESUMO

Considering the omnipresence of microplastics (MPs) in aquatic environments, they are expected to exert significatn impacts as carriers for diverse waterborne pollutants. In this work, the adsorptive behavior of two ionic components (i.e., sodium dodecyl benzene sulfonate (SDBS) and Cr(VI)) has been explored against the two types of MPs as model adsorbents, namely poly (ethylene terephthalate) (PET) and polystyrene (PS). The influence of key variables (e.g., pH, particle size, and dose of the MPs) on their adsorption behavior is evaluated from various respects. The maximum adsorption capacity values of SDBS on PET and PS are estimated to be 4.80 and 4.65 mg⋅g-1, respectively, while those of Cr(VI) ions are significantly lower at 0.080 and 0.072 mg⋅g-1, respectively, The adsorptive equilibrium of SDBS is best described in relation to pH and MP size by a Freundlich isotherm. In contrast, the adsorption behavior of Cr(VI) is best accounted for by a Langmuir isotherm to indicate its adsorption across at least two active surface sites.

5.
Commun Biol ; 4(1): 286, 2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33674721

RESUMO

Voracious feeding, trans-continental migration and insecticide resistance make Spodoptera litura among the most difficult Asian agricultural pests to control. Larvae exhibit strong circadian behavior, feeding actively at night and hiding in soil during daytime. The daily pattern of larval metabolism was reversed, with higher transcription levels of genes for digestion (amylase, protease, lipase) and detoxification (CYP450s, GSTs, COEs) in daytime than at night. To investigate the control of these processes, we annotated nine essential clock genes and analyzed their transcription patterns, followed by functional analysis of their coupling using siRNA knockdown of interlocked negative feedback system core and repressor genes (SlituClk, SlituBmal1 and SlituCwo). Based on phase relationships and overexpression in cultured cells the controlling mechanism seems to involve direct coupling of the circadian processes to E-boxes in responding promoters. Additional manipulations involving exposure to the neonicotinoid imidacloprid suggested that insecticide application must be based on chronotoxicological considerations for optimal effectiveness.

6.
Radiother Oncol ; 159: 98-105, 2021 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-33771577

RESUMO

BACKGROUND AND PURPOSE: Breast cancer patients frequently develop radiation dermatitis (RD) when undergoing post-operative radiation therapy (RT). Traditional RD assessment methods measure clinician-reported outcomes (CROs), but patient-reported outcomes (PROs) have gained recent popularity. The purpose of this prospective analysis was to compare PROs with CROs of breast RD. MATERIALS AND METHODS: Demographic and treatment characteristics were prospectively collected for patients receiving post-operative RT between February 2018 to September 2020. Patients and clinicians completed a skin symptom assessment at baseline, weekly during RT, and at a one- to three-month follow-up visit. Skin treatments used by patients were collected. Concordance between each PRO and CRO was determined using percent concordance and concordance index (C-statistic) by logistic regression analysis. RESULTS: A total of 777 patients were included in the present study. All skin symptom assessment items were significantly underreported by clinicians in comparison to patients (p < 0.0001), with a low to moderate level of concordance (C-statistic range: 0.58-0.70; percent concordance range: 29-50%). The majority of patients used moisturizing creams as a prophylactic measure (65.1%), as per institutional guidelines. CONCLUSION: There were significant discrepancies between PROs and CROs when assessing breast RD. CROs alone are insufficient in measuring RD as they fail to capture the impact on patient quality of life. The study findings highlight the need for improved RD symptom assessment and support the development of a new tool with both patient and clinician components.

7.
Neurochem Res ; 2021 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-33709257

RESUMO

Physical exercise is beneficial to the structural and functional recovery of post-ischemic stroke, but its molecular mechanism remains obscure. Herein, we aimed to explore the underlying mechanism of exercise-induced neuroprotection from the perspective of microRNAs (miRNAs). Adult male Sprague-Dawley (SD) rats were randomly distributed into 4 groups, i.e., the physical exercise group with the transient middle cerebral artery occlusion (tMCAO) surgery (PE-IS, n = 28); the physical exercise group without tMCAO surgery (PE, n = 6); the sedentary group with tMCAO surgery (Sed-IS, n = 28); and the sedentary group without tMCAO surgery (Sed, n = 6). Notably, rats in the PE-IS and PE groups were subjected to a running exercise for 28 days while rats in the Sed-IS and Sed groups received no exercise training. After long-term exercise, exosomal miRNAs of cerebrospinal fluid (CSF) were analyzed using high-throughput sequencing. Furthermore, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis were employed for the differentially expressed miRNAs. Physical exercise improved the neurological function and attenuated the lesion expansion after stroke. In total, 41 differentially expressed miRNAs were screened for the GO and KEGG analysis. GO enriched terms were associated with the central nervous system, including cellular response to retinoic acid, vagus nerve morphogenesis, cellular response to hypoxia, dendritic cell chemotaxis, cell differentiation, and regulation of neuron death. Besides, these differentially expressed miRNAs were linked to the pathophysiological process of stroke, including axon guidance, NF-kappa B signaling pathway, thiamine metabolism, and MAPK signaling pathway according to KEGG analysis. In summary, exercise training significantly alleviated the neurological damage at both functional and structural levels. Moreover, the differentially expressed miRNAs regulating multiple signal pathways were potentially involved in the neuroprotective effects of physical exercise. Therefore, these miRNAs altered by physical exercise might represent the therapeutic strategy for cerebral ischemia.

8.
Nanotechnology ; 2021 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-33725669

RESUMO

The core-shell nanocomposite with catalytic metal-organic framework (MOF) shell is more effective and stable than bare MOF. We have successfully designed an effective heterogeneous catalyst for the synthesis of benzimidazole by integrating acidic catalytic activity, promoted aerobic oxidation and magnetic recyclability into core-shell nanocomposite Fe3O4@SiO2@UiO-66. Fe3O4@SiO2 core is encapsulated by the in-situ growing UiO-66 shell, and the UiO-66 shell retains the porous structure and crystallinity of UiO-66 with abundant exposed Lewis acid sites, which shows high catalytic ability for the synthesis of various benzimidazole through the acid-catalyzed condensation and aerobic oxidation with in-situ oxygen. The Fe3O4@SiO2 core provides magnetic recyclability of Fe3O4@SiO2@UiO-66, which maintains high catalytic ability and stability for 6 cycles.

9.
Front Public Health ; 9: 606711, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33681127

RESUMO

Background: Previous studies have constructed prediction models for type 2 diabetes mellitus (T2DM), but machine learning was rarely used and few focused on genetic prediction. This study aimed to establish an effective T2DM prediction tool and to further explore the potential of genetic risk scores (GRS) via various classifiers among rural adults. Methods: In this prospective study, the GRS for a total of 5,712 participants from the Henan Rural Cohort Study was calculated. Cox proportional hazards (CPH) regression was used to analyze the associations between GRS and T2DM. CPH, artificial neural network (ANN), random forest (RF), and gradient boosting machine (GBM) were used to establish prediction models, respectively. The area under the receiver operating characteristic curve (AUC) and net reclassification index (NRI) were used to assess the discrimination ability of the models. The decision curve was plotted to determine the clinical-utility for prediction models. Results: Compared with the individuals in the lowest quintile of the GRS, the HR (95% CI) was 2.06 (1.40 to 3.03) for those with the highest quintile of GRS (P trend < 0.05). Based on conventional predictors, the AUCs of the prediction model were 0.815, 0.816, 0.843, and 0.851 via CPH, ANN, RF, and GBM, respectively. Changes with the integration of GRS for CPH, ANN, RF, and GBM were 0.001, 0.002, 0.018, and 0.033, respectively. The reclassifications were significantly improved for all classifiers when adding GRS (NRI: 41.2% for CPH; 41.0% for ANN; 46.4% for ANN; 45.1% for GBM). Decision curve analysis indicated the clinical benefits of model combined GRS. Conclusion: The prediction model combined with GRS may provide incremental predictions of performance beyond conventional factors for T2DM, which demonstrated the potential clinical use of genetic markers to screen vulnerable populations. Clinical Trial Registration: The Henan Rural Cohort Study is registered in the Chinese Clinical Trial Register (Registration number: ChiCTR-OOC-15006699). http://www.chictr.org.cn/showproj.aspx?proj=11375.

10.
Eur J Hum Genet ; 2021 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-33619332

RESUMO

Hereditary Diffuse Gastric Cancer (HDGC) syndrome is associated with CDH1 germline likely pathogenic/pathogenic variants. Carriers of CDH1 germline likely pathogenic/pathogenic variants are predisposed to diffuse gastric cancer and lobular breast cancer. This study aims to classify the CDH1 c.[715G>A] missense variant identified in a diffuse gastric cancer prone family by performing splicing studies. RT-PCR and subsequent cloning experiments were performed to investigate whether this variant completely disrupts normal splicing. This variant preferentially abolishes normal splicing through activation of a cryptic 3' acceptor splice site within exon 6 of CDH1, presumably leading to a premature protein truncation within first extracellular domain repeat of E-cadherin protein. Our results contributed to evidence necessary to resolve pathogenicity classification of this variant, indicating that this variant is to be classified as pathogenic.

11.
Lipids Health Dis ; 20(1): 11, 2021 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-33579296

RESUMO

BACKGROUND: Few studies have developed risk models for dyslipidaemia, especially for rural populations. Furthermore, the performance of genetic factors in predicting dyslipidaemia has not been explored. The purpose of this study is to develop and evaluate prediction models with and without genetic factors for dyslipidaemia in rural populations. METHODS: A total of 3596 individuals from the Henan Rural Cohort Study were included in this study. According to the ratio of 7:3, all individuals were divided into a training set and a testing set. The conventional models and conventional+GRS (genetic risk score) models were developed with Cox regression, artificial neural network (ANN), random forest (RF), and gradient boosting machine (GBM) classifiers in the training set. The area under the receiver operating characteristic curve (AUC), net reclassification index (NRI), and integrated discrimination index (IDI) were used to assess the discrimination ability of the models, and the calibration curve was used to show calibration ability in the testing set. RESULTS: Compared to the lowest quartile of GRS, the hazard ratio (HR) (95% confidence interval (CI)) of individuals in the highest quartile of GRS was 1.23(1.07, 1.41) in the total population. Age, family history of diabetes, physical activity, body mass index (BMI), triglycerides (TGs), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) were used to develop the conventional models, and the AUCs of the Cox, ANN, RF, and GBM classifiers were 0.702(0.673, 0.729), 0.736(0.708, 0.762), 0.787 (0.762, 0.811), and 0.816(0.792, 0.839), respectively. After adding GRS, the AUCs increased by 0.005, 0.018, 0.023, and 0.015 with the Cox, ANN, RF, and GBM classifiers, respectively. The corresponding NRI and IDI were 25.6, 7.8, 14.1, and 18.1% and 2.3, 1.0, 2.5, and 1.8%, respectively. CONCLUSION: Genetic factors could improve the predictive ability of the dyslipidaemia risk model, suggesting that genetic information could be provided as a potential predictor to screen for clinical dyslipidaemia. TRIAL REGISTRATION: The Henan Rural Cohort Study has been registered at the Chinese Clinical Trial Register. (Trial registration: ChiCTR-OOC-15006699 . Registered 6 July 2015 - Retrospectively registered).

12.
Arch Psychiatr Nurs ; 35(1): 42-48, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33593514

RESUMO

Social determinants of health influence psychological health in pregnancy and contribute to health inequities in birth outcomes. This study examines the association between family involvement during pregnancy and psychological health among Black women. Pregnant women in Detroit, MI and Columbus, OH were recruited between 8 and 29 weeks' gestation (n = 203). Higher family involvement was associated with lower depressive symptoms (CES-D; ß = -1.3, p < 0.001), perceived stress (ß = -0.8, p < 0.001), and anxiety (ß = -0.39, p < 0.01), and higher levels of psychological well-being (ß = 2.2, p < 0.001). Family involvement may be a protective factor for pregnant Black women.

13.
Artigo em Inglês | MEDLINE | ID: mdl-33557516

RESUMO

Bimetallic organic frameworks (Bi-MOFs) have been recognized as one of the most ideal precursors to construct metal oxide semiconductor (MOS) composites, owing to their high surface area, various chemical structures, and easy removal of the sacrificial MOF scaffolds through calcination. Herein, we synthesized Zn/Ni Bi-MOF for the first time via a facile ion exchange postsynthetic strategy, formed a three-dimensional framework consisting of infinite one-dimensional chains that is unattainable through the direct solvothermal approach, and then transformed the Zn/Ni Bi-MOF into a unique ZnO/NiO heterostructure through calcination. Notably, the obtained sensor based on a ZnO/NiO heterostructure exhibits an ultrahigh response of 280.2 toward 500 ppm n-propanol at 275 °C (17.2-fold enhancement compared with that of ZnO), remarkable selectivity, and a limit of detection of 200 ppb with a notable response (2.51), which outperforms state-of-the-art n-propanol sensors. The enhanced n-propanol sensing properties may be attributed to the synergistic effects of several points including the heterojunction at the interface between the NiO and ZnO nanoparticles, especially a one-dimensional chain MOF template structure as well as the chemical sensitization effect of NiO. This work provides a promising strategy for the development of a novel Bi-MOF-derived MOS heterostructure or homostructure with well-defined morphology and composition that can be applied to the fields of gas sensing, energy storage, and catalysis.

14.
Public Health Nurs ; 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33590543

RESUMO

OBJECTIVES: We examine the mediation effects of prenatal stress on the associations between intimate partner violence (IPV) experience and the most common forms of substance use (i.e., cigarette smoking, alcohol drinking, and marijuana use) among pregnant Black women. DESIGN: Cross-sectional. SAMPLE: Black women (N = 203) from metropolitan Detroit, Michigan and Columbus, Ohio, were recruited between 8 and 29 weeks of gestation. MEASUREMENTS: Women were asked about IPV experience during 12 months prior to the start of the pregnancy, perceived stress during pregnancy, and substance use during pregnancy. RESULTS: Intimate partner violence prior to pregnancy was positively associated with cigarette smoking and marijuana use but not with alcohol use during pregnancy. IPV prior to pregnancy was also positively associated with higher levels of perceived stress during pregnancy after controlling for covariates. Path analysis indicated that IPV had an indirect effect on marijuana use through perceived stress (standardized indirect effect = 0.026, SE = 0.020, 95% CI = 0.005-0.064, p =.017). CONCLUSIONS: Perceived stress during pregnancy partially mediated the association between previous experience of IPV and marijuana use among pregnant Black women. Interventions are needed to reduce IPV that would lower stress during pregnancy and consequently substance abuse to improve pregnancy outcomes and maternal and newborn health.

15.
Environ Sci Technol ; 55(5): 3270-3282, 2021 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-33566597

RESUMO

Microbial communities are believed to outperform monocultures in the complete catabolism of organic pollutants via reduced metabolic burden and increased robustness to environmental challenges; however, the interaction mechanism in functional microbiomes remains poorly understood. Here, three functionally differentiated activated sludge microbiomes (S1: complete catabolism of sulfamethoxazole (SMX); S2: complete catabolism of the phenyl part of SMX ([phenyl]-SMX) with stable accumulation of its heterocyclic product 3-amino-5-methylisoxazole (3A5MI); A: complete catabolism of 3A5MI rather than [phenyl]-SMX) were enriched. Combining time-series cultivation-independent microbial community analysis, DNA-stable isotope probing, molecular ecological network analysis, and cultivation-dependent function verification, we identified key players involved in the SMX degradation process. Paenarthrobacter and Nocardioides were primary degraders for the initial cleavage of the sulfonamide functional group (-C-S-N- bond) and 3A5MI degradation, respectively. Complete catabolism of SMX was achieved by their cross-feeding. The co-culture of Nocardioides, Acidovorax, and Sphingobium demonstrated that the nondegraders Acidovorax and Sphingobium were involved in the enhancement of 3A5MI degradation. Moreover, we unraveled the internal labor division patterns and connections among the active members centered on the two primary degraders. Overall, the proposed methodology is promisingly applicable and would help generate mechanistic, predictive, and operational understanding of the collaborative biodegradation of various contaminants. This study provides useful information for synthetic activated sludge microbiomes with optimized environmental functions.

16.
Viruses ; 13(2)2021 02 08.
Artigo em Inglês | MEDLINE | ID: mdl-33567490

RESUMO

Recent research indicates that most tissue and cell types can secrete and release membrane-enclosed small vesicles, known as exosomes, whose content reflects the physiological/pathological state of the cells from which they originate. These exosomes participate in the communication and cell-to-cell transfer of biologically active proteins, lipids, and nucleic acids. Studies of RNA viruses have demonstrated that exosomes release regulatory factors from infected cells and deliver other functional host genetic elements to neighboring cells, and these functions are involved in the infection process and modulate the cellular responses. This review provides an overview of the biogenesis, composition, and some of the most striking functions of exosome secretion and identifies physiological/pathological areas in need of further research. While initial indications suggest that exosome-mediated pathways operate in vivo, the exosome mechanisms involved in the related effects still need to be clarified. The current review focuses on the role of exosomes in RNA virus infections, with an emphasis on the potential contributions of exosomes to pathogenesis.


Assuntos
Exossomos/metabolismo , Infecções por Vírus de RNA/patologia , Vírus de RNA/fisiologia , Exossomos/química , Biogênese de Organelas , Infecções por Vírus de RNA/metabolismo , Infecções por Vírus de RNA/transmissão , Infecções por Vírus de RNA/virologia , Vírus de RNA/classificação , Replicação Viral
17.
J Clin Pharm Ther ; 2021 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-33511675

RESUMO

WHAT IS KNOWN AND OBJECTIVE: To evaluate the clinical efficacy of acupuncture through a review and analysis of systematic reviews of acupuncture for the treatment of diabetic peripheral neuropathy. METHODS: Systematic reviews of acupuncture treatment for diabetic peripheral neuropathy were collected by searching CNKI, VIP, Wanfang database, Chinese Biomedical Literature Database (CBM), PubMed, Web of Science and the Cochrane Library. The retrieval period was from the establishment of the database to February 14, 2020. After literature selection and extraction, included reports were evaluated in terms of the quality of the methodology and of the report using criteria from the AMSTAR2 scale and the PRISMA statement. RESULTS AND DISCUSSION: Eighty eight reviews were retrieved. The inclusion criteria were a published systematic evaluation/meta-analysis/systematic review of acupuncture treatment for diabetic peripheral neuropathy, which included subjects meeting the diagnostic criteria for diabetic peripheral neuropathy, and which compared acupuncture treatment with non-acupuncture treatment. After the inclusion criteria had been applied, 18 reviews were finally included. According to the PRISMA statement, 3 reports were relatively complete, 12 reports had certain defects, 3 reports had considerable information missing, and 18 reports had extremely low methodological quality according to the AMSTAR2 scale. Current evidence shows that acupuncture improves diabetic peripheral neuropathy and increases nerve conduction velocity. However, the methodological quality of the reviews is generally extremely low, and most of the reviews had certain defects, showing that there is still much room for improvement in terms of the methodology and quality of the research reports. WHAT IS NEW AND CONCLUSION: Acupuncture appears to have an effect on DPN, effectively improving nerve conduction and clinical symptoms. Although the methodological quality of the included studies was generally very low and defects were frequent, our study highlights areas where improvement in methodology is required. There is a need for further study of the pathogenesis of DPN, and for developing a unified standard for methods of acupuncture treatment, acupoint selection, and adverse reactions reporting. Traditional Chinese medical practices such as acupuncture should adopt an evidence-based approach to provide greater confidence in their use.

19.
Biosci Rep ; 41(1)2021 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-33416073

RESUMO

Triple negative breast cancer (TNBC) is a more common type of breast cancer with high distant metastasis and poor prognosis. The potential role of lamins in cancer progression has been widely revealed. However, the function of lamin B2 (LMNB2) in TNBC progression is still unclear. The present study aimed to investigate the role of LMNB2 in TNBC. The cancer genome atlas (TCGA) database analysis and immunohistochemistry (IHC) were performed to examine LMNB2 expression levels. LMNB2 short hairpin RNA plasmid or lentivirus was used to deplete the expression of LMNB2 in human TNBC cell lines including MDA-MB-468 and MDA-MB-231. Alterations in cell proliferation and apoptosis in vitro and the nude mouse tumorigenicity assay in vivo were subsequently analyzed. The human TNBC tissues shown high expression of LMNB2 according to the bioinformation analysis and IHC assays. LMNB2 expression was correlated with the clinical pathological features of TNBC patients, including pTNM stage and lymph node metastasis. Through in vitro and in vivo assays, we confirmed LMNB2 depletion suppressed the proliferation and induced the apoptosis of TNBC cells, and inhibited tumor growth of TNBC cells in mice, with the decrease in Ki67 expression or the increase in caspase-3 expression. In conclusion, LMNB2 may promote TNBC progression and could serve as a potential therapeutic target for TNBC treatment.

20.
Breast Cancer Res Treat ; 185(3): 869-877, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33452952

RESUMO

PURPOSE: Mutations in RAD51D are associated with a predisposition to primary ovarian, fallopian tube, and peritoneal carcinoma. Our study aims to characterize a RAD51D missense variant in a hereditary ovarian cancer family. METHODS: The effects of the RAD51D c.82G>A (p.Val28Met) variant on mRNA splicing were evaluated and characterized using RT-PCR, cloning and DNA sequencing. RESULTS: This variant completely disrupts normal splicing and results in the loss of 3'end of 5'UTR and the entire exon 1 (c.-86_c.82), which presumably leads to loss of the RAD51D protein. The RAD51D c.82G>A (p.Val28Met) variant is clinically significant and classified as likely pathogenic. CONCLUSIONS: Our results indicate that the RAD51D c.82G>A (p.Val28Met) variant contributes to cancer predisposition through disruption of normal mRNA splicing. The identification of this variant in an individual affected with high-grade serous fallopian tube cancer suggests that the RAD51D variant may contribute to predisposition to the ovarian cancer in this family.

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