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1.
Mikrochim Acta ; 189(8): 273, 2022 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-35792975

RESUMO

An integrated custom cross-response sensing array has been developed combining the algorithm module's visible machine learning approach for rapid and accurate pathogenic microbial taxonomic identification. The diversified cross-response sensing array consists of two-dimensional nanomaterial (2D-n) with fluorescently labeled single-stranded DNA (ssDNA) as sensing elements to extract a set of differential response profiles for each pathogenic microorganism. By altering the 2D-n and different ssDNA with different sequences, we can form multiple sensing elements. While interacting with microorganisms, the competition between ssDNA and 2D-n leads to the release of ssDNA from 2D-n. The signals are generated from binding force driven by the exfoliation of either ssDNA or 2D-n from the microorganisms. Thus, the signal is distinguished from different ssDNA and 2D-n combinations, differentiating the extracted information and visualizing the recognition process. Fluorescent signals collected from each sensing element at the wavelength around 520 nm are applied to generate a fingerprint. As a proof of concept, we demonstrate that a six-sensing array enables rapid and accurate pathogenic microbial taxonomic identification, including the drug-resistant microorganisms, under a data size of n = 288. We precisely identify microbial with an overall accuracy of 97.9%, which overcomes the big data dependence for identifying recurrent patterns in conventional methods. For each microorganism, the detection concentration is 105 ~ 108 CFU/mL for Escherichia coli, 102 ~ 107 CFU/mL for E. coli-ß, 103 ~ 108 CFU/mL for Staphylococcus aureus, 103 ~ 107 CFU/mL for MRSA, 102 ~ 108 CFU/mL for Pseudomonas aeruginosa, 103 ~ 108 CFU/mL for Enterococcus faecalis, 102 ~ 108 CFU/mL for Klebsiella pneumoniae, and 103 ~ 108 CFU/mL for Candida albicans. Combining the visible machine learning approach, this sensing array provides strategies for precision pathogenic microbial taxonomic identification. • A molecular response differential profiling (MRDP) was established based on custom cross-response sensor array for rapid and accurate recognition and phenotyping common pathogenic microorganism. • Differential response profiling of pathogenic microorganism is derived from the competitive response capacity of 6 sensing elements of the sensor array. Each of these sensing elements' performance has competitive reaction with the microorganism. • MRDP was applied to LDA algorithm and resulted in the classification of 8 microorganisms.


Assuntos
Escherichia coli , Nanoestruturas , DNA de Cadeia Simples , Aprendizado de Máquina , Nanoestruturas/química
2.
Gene ; 834: 146590, 2022 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-35623478

RESUMO

BACKGROUND: High altitude pulmonary edema (HAPE) is a fatal disease of fluid accumulation in the lungs resulting from acute exposure to high altitude and hypoxia. Now research has found that changes in DNA methylation are genetically related. We investigated the effects of hypermethylation and hypomethylation on HAPE. METHODS: We conducted an analysis of methylation in Chinese HAPE patients (53 patients and 53 controls). EpiTYPER of the Sequenom MassARRAY platform was used to detect DNA methylation at 43 CpG sites in CYP2S1. RESULTS: We used probability analysis to find that only five CPG sites were not methylated. CYP2S1_1_CpG_11, CYP2S1_2_CpG_11, CYP2S1_2_CpG_12, CYP2S1_2_CpG_13, and CYP2S1_3_CPG_11.12 in the case group were lower than those in the control group. Our results showed that, 12 CpG sites had different methylation levels in HAPE patients compared with healthy controls, and only CYP2S1_1_CPG_1.2.3 (OR = 2.920, 95 %Cl = 1.228-6.946, p = 0.015) had a higher risk of hypermethylation than hypomethylation. ROC curve analysis showed that the methylation level of CYP2S1 could effectively predict the risk of HAPE patients. CONCLUSION: Our results showed that several CpG sites in the promoter regions of CYP2S1 gene were abnormally methylated in HAPE patients.


Assuntos
Doença da Altitude , Edema Pulmonar , Altitude , Doença da Altitude/genética , Sistema Enzimático do Citocromo P-450/genética , Metilação de DNA , Humanos , Hipertensão Pulmonar , Edema Pulmonar/genética
3.
Sci Rep ; 12(1): 5493, 2022 03 31.
Artigo em Inglês | MEDLINE | ID: mdl-35361868

RESUMO

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in Wuhan, China, has led to the rapid development of Coronavirus disease 2019 (COVID-19) pandemic. COVID-19 represents a fatal disease with a great global public health importance. This study aims to develop a three-parameter Weibull mathematical model using continuous functions to represent discrete COVID-19 data. Subsequently, the model was applied to quantitatively analyze the characteristics for the mortality of COVID-19, including the age, sex, the length of symptom time to hospitalization time (SH), hospitalization date to death time (HD) and symptom time to death time time (SD) and others. A three-parameter mathematical model was developed by combining the reported cases in the Data Repository from the Center for Systems Science and Engineering at Johns Hopkins University and applied to estimate and analyze the characteristics for mortality of COVID-19. We found that the scale parameters of males and females were 5.85 and 5.45, respectively. Probability density functions in both males and females were negative skewness. 5% of male patients died under the age of 43.28 (44.37 for females), 50% died under 69.55 (73.25 for females), and 95% died under 86.59 (92.78 for females). The peak age of male death was 67.45 years, while that of female death was 71.10 years. The peak and median values of SH, HD and SD in male death were correspondingly 1.17, 5.18 and 10.30 days, and 4.29, 11.36 and 16.33 days, while those in female death were 1.19, 5.80 and 12.08 days, and 4.60, 12.44 and 17.67 days, respectively. The peak age of probability density in male and female deaths was 69.55 and 73.25 years, while the high point age of their mortality risk was 77.51 and 81.73 years, respectively. The mathematical model can fit and simulate the impact of various factors on IFR. From the simulation results of the model, we can intuitively find the IFR, peak age, average age and other information of each age. In terms of time factors, the mortality rate of the most susceptible population is not the highest, and the distribution of male patients is different from the distribution of females. This means that Self-protection and self-recovery in females against SARS-CoV-2 virus might be better than those of males. Males were more likely to be infected, more likely to be admitted to the ICU and more likely to die of COVID-19. Moreover, the infection fatality ration (IFR) of COVID-19 population was intrinsically linked to the infection age. Public health measures to protect vulnerable sex and age groups might be a simple and effective way to reduce IFR.


Assuntos
COVID-19 , Idoso , Idoso de 80 Anos ou mais , Suscetibilidade a Doenças , Feminino , Humanos , Masculino , Modelos Teóricos , Saúde Pública , SARS-CoV-2
4.
Future Oncol ; 18(15): 1861-1872, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35156841

RESUMO

Aim: This study was designed to evaluate the contribution of GBAP1 variants to gastric cancer (GC) risk in a Chinese Han population. Methods: The genotypes of GBAP1 polymorphisms were detected using the Agena MassARRAY platform. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% CIs. Results: GBAP1 rs140081212 (OR = 0.51, p = 4.50 × 10-07), rs1057941 (OR = 0.48, p = 1.19 × 10-08) and rs2990220 (OR = 0.46, p = 7.34 × 10-09) contribute to reduced GC risk, especially gastric adenocarcinoma. Interestingly, the contribution of GBAP1 variants to GC susceptibility was associated with age, sex, BMI, smoking and drinking. Conclusion: This research suggested that GBAP1 polymorphisms might provide a protective effect against GC occurrence in a Chinese Han population.


Assuntos
Neoplasias Gástricas , Estudos de Casos e Controles , China/epidemiologia , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologia
5.
Nat Prod Res ; 36(8): 2032-2036, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33172306

RESUMO

A convenient and selective alkylation of icaritin has been developed. The methodology involved initial formation of ß-anhydroicaritine (3) under acidic conditions followed by selective methylation at the C-3 position and then alkylation at C-5 position. Several alkylated ß-anhydroicaritine derivatives were synthesised using this methodology. These newly synthesised derivatives, especially the compounds 5b, 5c and 5j, significantly suppressed cell proliferation when tested against cancer cell lines in vitro. Compound 5j (R = Bn) exhibited a competitive inhibition against MCF7 in vivo compared to tamoxifen.


Assuntos
Antineoplásicos , Alquilação , Antineoplásicos/farmacologia , Proliferação de Células , Ensaios de Seleção de Medicamentos Antitumorais , Relação Estrutura-Atividade
6.
Opt Express ; 29(23): 37747-37758, 2021 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-34808841

RESUMO

Non-collinear stimulated Brillouin scattering (SBS) amplification can obtain high peak power Stokes output while ensuring the stability, but the frequency mismatch reduces the energy conversion efficiency of the system. In this paper, a dual-frequency pulse laser based on acousto-optic crystal modulation is designed. The output pulse pair can be used as pump and Stokes light, respectively, which realizes the active frequency matching of the gain medium Brillouin frequency shift during the SBS amplification process and helps to maintain ideal energy conversion efficiency. The dual-frequency laser finally produced a laser pulse pair with a pulse width adjustment range of 100 ps-50 ns, a frequency shift range of 0 GHz-2 GHz, and the polarization extinction ratio (PER) reaches 20.82dB.

7.
Plant Physiol ; 187(1): 361-377, 2021 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-34618136

RESUMO

Photoperiod strictly controls vegetative and reproductive growth stages in soybean (Glycine max). A soybean GmRAV (Related to ABI3/VP1) transcription factor containing both AP2 and B3 domains was shown to be a key component of this process. We identified six polymorphisms in the GmRAV promoter that showed significant association with flowering time and maturity of soybean in one or multiple environments. Soybean varieties with minor polymorphism exhibited a longer growth period contributing to soybean adaptation to lower latitudes. The cis-acting element GT1CONSENSUS motif of the GmRAV promoter controlled the growth period, and the major allele in this motif shortened duration of late reproductive stages by reducing GmRAV expression levels. Three GmRAV-overexpressing (GmRAV-ox) transgenic lines displayed later flowering time and maturity, shorter height and fewer numbers of leaves compared with control plants, whereas transgenic inhibition of GmRAV expression resulted in earlier flowering time and maturity and increased plant height. Combining DNA affinity purification sequencing and RNA sequencing analyses revealed 154 putative target genes directly bound and transcriptionally regulated by GmRAV. Two GmRAV binding motifs [C(A/G)AACAA(G/T)A(C/T)A(G/T)] and [C(T/A)A(C)C(T/G)CTG] were identified, and acting downstream of E3E4, GmRAV repressed GmFT5a transcriptional activity through binding a CAACA motif, thereby delaying soybean growth and extending both vegetative and reproductive phases.


Assuntos
Adaptação Biológica , Flores/crescimento & desenvolvimento , Fotoperíodo , Proteínas de Plantas/genética , Soja/genética , Fatores de Transcrição/genética , Flores/genética , Proteínas de Plantas/metabolismo , Soja/crescimento & desenvolvimento , Soja/metabolismo , Fatores de Transcrição/metabolismo
8.
Infect Genet Evol ; 95: 105022, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34371160

RESUMO

OBJECTIVE: Tuberculosis (TB) is a chronic infectious disease which remains a main cause of death worldwide, and arises more and more concerns in recent years. CytochromeP450 (CYP450) is involved in the metabolism of many exogenous and endogenous compounds, and its polymorphism is associated with many diseases. The objective of our study was to explore the relationship between CYP450 polymorphisms and TB susceptibility in Northwest Chinese Han population. METHODS: 506 TB patients and 506 controls were recruited for our study, and their DNA were extracted. Six single nucleotide polymorphisms (SNPs) were selected for genotype. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated to evaluate the correlation between SNPs and TB risk. RESULTS: The genotype "TA" of CYP2C8 rs2275620 was related to an increased risk of TB in the co-dominant model (OR = 1.33, 95%CI =1.00-1.76, p = 0.049). In females, CYP2E1 rs2070672 was related to an increased TB susceptibility (co-dominant: OR = 1.62, 95%CI = 1.04-2.52, p = 0.032; dominant: OR = 1.66, 95%CI = 1.08-2.56, p = 0.020; additive: OR = 1.60, 95%CI = 1.08-2.36, p = 0.018), and CYP2E1 rs2515641 was also associated with an increased risk of TB (co-dominant: OR = 1.90, 95%CI = 1.19-3.04, p = 0.007; dominant: OR = 1.94, 95%CI = 1.23-3.05, p = 0.004; additive: OR = 1.80, 95%CI = 1.20-2.71, p = 0.005) in women. But there was no statistical significance between haplotypes and TB risk (p > 0.05). CONCLUSIONS: Our research showed CYP2C8 and CYP2E1 polymorphisms are associated with an increased risk of TB in Northwest Chinese Han population, which may provide a crucial help on defining new therapeutic strategies for chemoprevention.


Assuntos
Citocromo P-450 CYP2C8/genética , Citocromo P-450 CYP2E1/genética , Tuberculose/genética , Adulto , Idoso , Estudos de Casos e Controles , China/epidemiologia , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Tuberculose/epidemiologia , Adulto Jovem
9.
J Med Microbiol ; 70(7)2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34313585

RESUMO

Introduction. Coronavirus disease 2019 (COVID-19) is a highly contagious disease and ravages the world.Hypothesis/Gap Statement. We proposed that R. crenulata might have potential value in the treatment of COVID-19 patients by regulating the immune response and inhibiting cytokine storm.Aim. We aimed to explore the potential molecular mechanism for Rhodiola crenulata (R. crenulata), against the immune regulation of COVID-19, and to provide a referenced candidate Tibetan herb (R. crenulata) to overcome COVID-19.Methodology. Components and targets of R. crenulata were retrieved from the TCMSP database. GO analysis and Kyoto Encyclopaedia of Genes and Genomes (KEGG) pathway enrichment were built by R bioconductor package to explore the potential biological effects for targets of R. crenulata. The R. crenulata-compound-target network, target pathway network and protein-protein interaction (PPI) network were constructed using Cytoscape 3.3.0. Autodock 4.2 and Discovery Studio software were applied for molecular docking.Result. Four bioactive components (quercetin, kaempferol, kaempferol-3-O-α-l-rhamnoside and tamarixetin) and 159 potential targets of R. crenulata were identified from the TCMSP database. The result of GO annotation and KEGG-pathway-enrichment analyses showed that target genes of R. crenulata were associated with inflammatory response and immune-related signalling pathways, especially IL-17 signalling pathway, and TNF signalling pathway. Targets-pathway network and PPI network showed that IL-6, IL-1B and TNF-α were considered to be hub genes. Molecular docking showed that core compound (quercetin) had a certain affinity with IL-1ß, IL-6 and TNF-α.Conclusion. R. crenulata might play an anti-inflammatory and immunoregulatory role in the cytokine storm of COVID-19.


Assuntos
COVID-19/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Rhodiola/química , COVID-19/metabolismo , Humanos , Inflamação/tratamento farmacológico , Inflamação/metabolismo , Interleucinas/metabolismo , Medicina Tradicional Chinesa/métodos , Simulação de Acoplamento Molecular/métodos , SARS-CoV-2/efeitos dos fármacos , Transdução de Sinais/efeitos dos fármacos , Tibet
10.
Int J Gen Med ; 14: 2147-2159, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34093035

RESUMO

BACKGROUND: Rheumatoid arthritis (RA), an autoimmune systemic inflammatory disease, largely resulted from genetic factor. Our purpose was to explore the association for IL1R1 and IL1R2 genetic variants with RA susceptibility in the Chinese Han population. PATIENTS AND METHODS: A total of 508 RA patients and 494 controls were involved in this case-control study; single-nucleotide polymorphisms (SNPs) genotyping was identified by the Agena MassARRAY platform. The relationship between polymorphisms and RA susceptibility was calculated using the Pearson's Chi-square test with odds ratios and 95% confidence intervals (CIs) in multiple genetic models. The Pearson's Chi-square test and Student's t-test were used for sample basic characteristic analysis. And linkage disequilibrium (LD) analysis and haplotype analysis were performed by logistic regression analysis. RESULTS: The result from this study showed that rs2072472 (IL1R2) was an increased risk factor of RA (adjusted OR = 1.41, p = 0.011). Stratified analysis indicated SNPs rs10490571, rs956730, rs3917318 of IL1R1, and SNPs rs4851527, rs719250, rs3218896, rs3218977, rs2072472 of IL1R2 had impacts on RA risk after stratification based on gender and average age (54 years). Finally, haplotype analysis revealed that Ars3218977Ars2072472 haplotype in IL1R2 was related to a decreased RA risk (adjusted OR = 0.79; 95% CI = 0.65-0.94; p = 0.010). Yet, rs3917225(IL1R1) and rs11674595(IL1R2) were not significant in RA association analysis. CONCLUSION: We determined SNPs (rs3917318, rs956730, rs1049057) of IL1R1 and SNPs (rs3218977, rs719250, rs4851527, rs3218896, rs2072472) of IL1R2 were correlated with the RA susceptibility in the Chinese Han population.

11.
Appl Opt ; 60(16): 4698-4705, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34143027

RESUMO

A novel trench-assisted dual-mode multi-core fiber with large-mode-field-area is proposed. The structure consists of 17 conventional cores and two air holes according to a regular hexagon, which can realize strict dual-mode transmission. The structural parameters' effect on mode transmission characteristics, mode-field-area, and bending loss are analyzed systematically. By optimizing the structural parameters, the mode-field-area of the fundamental mode can reach ${2100.619}\;{{\unicode{x00B5}{\rm m}}^2}$. The introduction of the trench with a lower refractive index than cladding can reduce the bending loss to ${9.88} \times {{10}^{- 4}}\;{\rm dB}/{\rm m}$ when the bending radius is 2.3 cm. Besides, the structural design is flexible, and the manufacturing process is simple, which has broad application prospects.

12.
Front Plant Sci ; 12: 667242, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34040624

RESUMO

The flowering time and plant height of soybean are important agronomic characters, which control the adaptability and yield of soybean. R2R3 MYB transcription factor plays an important regulatory role in plant growth and development. In this study, soybean GmGAMYB gene of R2R3-MYB type was induced by long-days (LDs). GmGAMYB showed higher transcriptional levels in the flowers, leaves and pods of soybean. Overexpression of GmGAMYB in transgenic soybean showed earlier flowering time and maturity in LDs and short-days (SDs). GmGAMYB interacted with GmGBP1 and might promote flowering time by up-regulating the expression of GmFULc gene in soybean. Moreover, the expression level of GmGAMYB was also induced by gibberellins (GAs) and the plant height of GmGAMYB-ox plants was significantly increased, which was caused by the enlargement of internode cell in stem. Furthermore, GmGAMYB overexpression led to increased GA sensitivity in the hypocotyl of soybean seedlings compared with WT. GmGAMYB may be a positive regulator of GA response of promoting plant height by up-regulating the expression of GmGA20ox gene in soybean. Together, our studies preliminarily showed that the partial functions of GmGAMYB in regulating flowering time and GA pathway.

13.
Sci Rep ; 11(1): 7294, 2021 03 31.
Artigo em Inglês | MEDLINE | ID: mdl-33790390

RESUMO

Nasopharyngeal carcinoma (NPC) is a rare malignancy, with the unique geographical and ethnically characteristics of distribution. Gene chip and bioinformatics have been employed to reveal regulatory mechanisms in current functional genomics. However, a practical solution addressing the unresolved aspects of microarray data processing and analysis have been long pursuit. This study developed a new method to improve the accuracy of identifying key biomarkers, namely Unit Gamma Measurement (UGM), accounting for multiple hypotheses test statistics distribution, which could reduce the dependency problem. Three mRNA expression profile of NPC were selected to feed UGM. Differentially expressed genes (DEGs) were identified with UGM and hub genes were derived from them to explore their association with NPC using functional enrichment and pathway analysis. 47 potential DEGs were identified by UGM from the 3 selected datasets, and affluent in cysteine-type endopeptidase inhibitor activity, cilium movement, extracellular exosome etc. also participate in ECM-receptor interaction, chemical carcinogenesis, TNF signaling pathway, small cell lung cancer and mismatch repair pathway. Down-regulation of CAPS and WFDC2 can prolongation of the overall survival periods in the patients. ARMC4, SERPINB3, MUC4 etc. have a close relationship with NPC. The UGM is a practical method to identify NPC-associated genes and biomarkers.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma/metabolismo , Biologia Computacional/métodos , Neoplasias Nasofaríngeas/metabolismo , Algoritmos , Biomarcadores Tumorais/metabolismo , Carcinoma/genética , Carcinoma/patologia , Perfilação da Expressão Gênica/métodos , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Nasofaríngeas/genética , Neoplasias Nasofaríngeas/patologia
14.
Micromachines (Basel) ; 12(4)2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33916235

RESUMO

Nucleic acid extraction is crucial for PCR detection of pathogenic bacteria to ensure food safety. In this study, a new magnetic extraction method was developed using 3D printing and magnetic silica beads (MSBs) to extract the target DNA from a large volume of bacterial sample and combined with microfluidic PCR to determine the bacteria. After proteinase K was added into a bacterial sample to lyse the bacteria and release the DNA, it was continuous-flow injected into the serpentine channel of the extraction chip, where magnetic silica bead chains had been formed in advance using a homogeneous magnetic field generated by two concentric semicircle magnets to capture the MSBs. Then, the flowing DNA was captured by the MSB chains, washed with alcohol, dried with gas, and eluted with deionized water to obtain the purified and concentrated DNA. Finally, the extracted DNA templates were injected into a microfluidic PCR chip with lyophilized amplification reagents and determined using a commercial qPCR device. The experimental results showed that the DNA extraction efficiency was more than 90%, and the lower detection limit of Salmonella was 102 CFU/mL. This new Salmonella detection method is promising to provide the rapid, sensitive, and simultaneous detection of multiple foodborne pathogens.

16.
Clin Exp Pharmacol Physiol ; 48(5): 668-678, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-32311112

RESUMO

Personalized medicine, the treatment best suited for an individual, is a hot field of clinical research in the world. Many recent studies have shown that genetic variations have a great influence on the treatment. This study aimed to identify the distribution differences of very important pharmacogene (VIP) variants between the Tibetan population and the other 26 populations from the 1000 Genomes project. Based on the PharmGKB database, we successfully genotyped 50 VIP variants located in 27 genes in the Tibetan population. We also compared the genotype frequencies of VIP variants between Tibetan population and the other 26 populations. Without adjustment, the Chi-square test showed that the only significant variant between Tibetans and every other group was rs1801159 in dihydropyrimidine dehydrogenase (DPYD), followed by rs1800566 in NAD(P)H quinone dehydrogenase 1 (NQO1) and rs1051296 in solute carrier family 19 member 1 (SLC19A1). After Bonferroni's multiple adjustments, the genotype frequencies distribution of DPYD rs1801159 was found to be different in Tibetans compared to the other 26 groups, apart from ACB and ASW. Moreover, genetic structure/F-statistics (Fst) analysis and the phylogenetic tree illustrated that Tibetans had a closer affinity with CDX, CHB, CHS, JPT and KHV. Our data will complement pharmacogenomics information of the Tibetan population and provide theoretical support for the realization of individualized medical treatment for Tibetans in the future.


Assuntos
Frequência do Gene , Filogenia , Genótipo , Humanos , Tibet
17.
Nat Prod Res ; 35(24): 5752-5756, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33078626

RESUMO

In this paper, a series of novel derivatives of camptothecin substituted norcantharimide was designed by mimic strategy. These compounds were synthesized in moderate yields by directly coupling CPT with N-amino acid norcantharimides. Their cytotoxicity to four human tumour cell lines (HepG2, BGC-803, SW480 and PANC-1) and normal human cell lines L-O2 and HIEC was evaluated. The synthesized CPT substituted norcantharimide analogs (3g and 3f) showed better anti-hepatocarcinoma activity than CPT. Compounds 3d, 3e, 3g, 3h and 3i also showed strong inhibition activity against BGC803.


Assuntos
Antineoplásicos , Camptotecina , Antineoplásicos/farmacologia , Camptotecina/farmacologia , Linhagem Celular Tumoral , Humanos , Relação Estrutura-Atividade
18.
Eur J Med Genet ; 63(11): 104021, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32755715

RESUMO

Spondyloepimetaphyseal dysplasias (SEMDs), which comprise a heterogeneous group of autosomal-dominant, autosomal-recessive and X-linked recessive disorders, are characterized by anomalies of the spine, the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints. UFSP2 gene encodes a highly conserved cysteine protease which cleaves two C-terminal residues from ubiquitin-fold modifier 1, an ubiquitin-like post-translational modifier protein. In 2018, Di Rocco, M reported for the first time that a novel heterozygous variant exon 11: c.1277A > C of the UFSP2 gene was the cause to spondyloepimetaphyseal dysplasia mainly manifested as: short stature, anterior vertebral dysplasia, hip dysplasia, flat vertebra, spinal metaphyseal dysplasia, irregular acetabular apex, distal femoral metaphyseal dysplasia, proximal tibial metaphyseal dysplasia, osteoarthritis and so on. In this report, we describe a boy with spondyloepimetaphyseal dysplasia due to a novel mutation exon 11: c.1283A > G (leading to p. H428R) of the UFSP2 gene. This is the second report to describe children with SEMDs associated with an UFSP2 variant. However, it is the first to describe a UFSP2 gene mutation exon 11: c.1283A > G (leading to p. H428R). Our findings of a novel heterozygous mutation of UFSP2 gene add to the list of 2 reported heterozygous mutations of UFSP2 which led to hereditary osteopathy.


Assuntos
Cisteína Endopeptidases/genética , Osteocondrodisplasias/genética , Criança , Heterozigoto , Humanos , Masculino , Mutação de Sentido Incorreto , Osteocondrodisplasias/patologia
19.
Arch. bronconeumol. (Ed. impr.) ; 56(6): 360-364, jun. 2020. tab
Artigo em Inglês | IBECS | ID: ibc-198143

RESUMO

BACKGROUND: High-altitude pulmonary edema (HAPE) is a kind of non-cardiogenic edema with high incidence and life-threatening. This study was designed to explore the association of LINC-PINT and LINC00599 polymorphisms with HAPE susceptibility. METHODS: This study included 244 HAPE patients and 243 age-, sex-matched healthy controls from the Chinese population. The genotypes of polymorphisms were detected using the Agena MassARRAY. The relationship between polymorphisms and HAPE risk was evaluated using a chi2 test with an odds ratio (OR) and 95% confidence intervals (CIs) in multiple genetic models. RESULTS: We observe a significant association between the rs157928 and decreased HAPE risk in genotype model (OR = 0.65, 95% CI = 0.43-0.98, p = 0.038). The subgroup analysis results indicated that rs2272026 was associated with a decreased risk of HAPE in younger patients with age ≤ 32 (codominant model: p = 0.006; recessive model: p = 0.005 additive model: p = 0.018; and allele model: p = 0.012; rs72625676, codominant model: p = 0.038; recessive model: p = 0.037). Among patients older than 32 years, there was a significantly increased risk of HAPE associated with the rs2272026 and rs1962430 (rs2272026: genotype model: p = 0.049; recessive model: p = 0.029; rs1962430: genotype model: p = 0.024; recessive model: p = 0.020). Nevertheless, rs157928 had relationship with significantly reducing the risk of HAPE in the genotype model (p = 0.018). CONCLUSION: Our study suggests that LINC-PINT and LINC00599 polymorphisms are associated with HAPE susceptibility in Chinese population


ANTECEDENTES: El edema pulmonar de altitud (EPA) es un tipo de edema no cardiogénico con una incidencia alta y es potencialmente mortal. Este estudio se diseñó para explorar la asociación entre los polimorfismos de LINC-PINT y LINC00599 y la susceptibilidad al EPA. MÉTODOS: Este estudio incluyó a 244 pacientes con EPA y 243 controles sanos de la misma edad y sexo, todos de origen chino. Los genotipos de los polimorfismos se detectaron utilizando el MassARRAY de AgenaTM La relación entre los polimorfismos y el riesgo de EPA se evaluó utilizando el test de la CHi2 con el odds ratio (OR) e intervalos de confianza (IC) del 95% en múltiples modelos genéticos. RESULTADOS: Observamos una asociación significativa entre el rs157928 y una disminución del riesgo de EPA en el modelo genotípico (OR = 0,65, IC del 95% = 0,43-0,98, p = 0,038). Los resultados de los análisis por subgrupos indicaron que el rs2272026 se asociaba a una disminución del riesgo de EPA en pacientes jóvenes de ≤ 32 años (modelo codominante: p = 0,006; modelo recesivo: p = 0,005; modelo aditivo: p = 0,018; y modelo por alelos: p = 0,012 para rs72625676, modelo concomitante: p = 0,038; modelo recesivo: p = 0,037). Entre los pacientes mayores de 32 años, se encontró un riesgo aumentado de EPA de manera significativa asociado a los rs2272026 y rs1962430 (rs2272026: modelo genotípico: p = 0,049; modelo recesivo: p = 0,029; rs1962430: modelo genotípico: p = 0,024; modelo recesivo: p = 0,020). Sin embargo, el rs157928 tenía relación con una reducción significativa del riesgo de EPA en el modelo genotípico (p = 0,018). CONCLUSIÓN: Nuestro estudio sugiere que los polimorfismos de LINC-PINT y LINC00599 están asociados a la susceptibilidad de EPA en la población china


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Polimorfismo Genético , Edema Pulmonar/genética , Altitude , Estudos de Casos e Controles , Genótipo , China
20.
Biosci Rep ; 40(5)2020 05 29.
Artigo em Inglês | MEDLINE | ID: mdl-32329795

RESUMO

BACKGROUND: The present study aimed to investigate the roles of insulin related gene IGF2BP2, HMG20A, and HNF1B variants in the susceptibility of Type 2 diabetes mellitus (T2DM), and to identify their association with age, gender, BMI, and smoking and alcohol drinking behavior among the Han Chinese population. METHODS: About 508 patients with T2DM and 503 healthy controls were enrolled. Rs11927381 and rs7640539 in IGF2BP2, rs7178572 in HMG20A, rs4430796, and rs11651052 in HNF1B were genotyped by using the Agena MassARRAY. Odds ratio (OR) and 95% confidence intervals (CI) were calculated by logistic regression. RESULTS: We found that HMG20A rs7178572 (OR = 1.25, P = 0.015) and HNF1B rs11651052 (OR = 1.26, P = 0.019) increased the risk of T2DM. Rs7178572, rs4430796, and rs11651052 might be related to the higher T2DM susceptibility not only by itself but also by interacting with age, gender smoking, and alcohol drinking. Rs11927381 also conferred the higher T2DM susceptibility at age ≤ 59 years. Besides, rs7178572-AA (P = 0.032) genotype and rs11651052 GG (P = 0.018) genotype were related to higher glycated hemoglobin and insulin level, respectively. CONCLUSION: Specifically, we first found that rs11927381, rs7640539, and rs11651052 were associated with risk of T2DM among the Han Chinese population. We also provide evidence that age, gender, BMI, smoking, and drinking status have an interactive effect with these variants on T2DM susceptibility.


Assuntos
Diabetes Mellitus Tipo 2/genética , Fator 1-beta Nuclear de Hepatócito/genética , Proteínas de Grupo de Alta Mobilidade/genética , Polimorfismo de Nucleotídeo Único , Proteínas de Ligação a RNA/genética , Fatores Etários , Idoso , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/etnologia , Índice de Massa Corporal , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/etnologia , Feminino , Interação Gene-Ambiente , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Medição de Risco , Fatores de Risco , Fatores Sexuais , Fumar/efeitos adversos , Fumar/etnologia
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