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1.
Plant J ; 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38824648

RESUMO

Gibberellins (GAs) play crucial roles in regulating plant architecture and grain yield of crops. In rice, the inactivation of endogenous bioactive GAs and their precursors by GA 2-oxidases (GA2oxs) regulates stem elongation and reproductive development. However, the regulatory mechanisms of GA2ox gene expression, especially in rice reproductive organs, are unknown. The BEL1-like homeodomain protein OsBLH4, a negative regulatory factor for the rice OsGA2ox1 gene, was identified in this study. Loss of OsBLH4 function results in decreased bioactive GA levels and pleiotropic phenotypes, including reduced plant height, decreased grain number per panicle, and delayed heading date, as also observed in OsGA2ox1-overexpressing plants. Consistent with the mutant phenotype, OsBLH4 was predominantly expressed in shoots and young spikelets; its encoded protein was exclusively localized in the nucleus. Molecular analysis demonstrated that OsBLH4 directly bound to the promoter region of OsGA2ox1 to repress its expression. Genetic assays revealed that OsBLH4 acts upstream of OsGA2ox1 to control rice plant height, grain number, and heading date. Taken together, these results indicate a crucial role for OsBLH4 in regulating rice plant architecture and yield potential via regulation of bioactive GA levels, and provide a potential strategy for genetic improvements of rice.

2.
J Immunol ; 2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38819229

RESUMO

Myeloid-derived suppressor cells (MDSCs), the negative immune regulators, have been demonstrated to be involved in immune responses to a variety of pathological conditions, such as tumors, chronic inflammation, and infectious diseases. However, the roles and mechanisms underlying the expansion of MDSCs in malaria remain unclear. In this study, the phenotypic and functional characteristics of splenic MDSCs during Plasmodium yoelii NSM infection are described. Furthermore, we provide compelling evidence that the sera from P. yoelii-infected C57BL/6 mice containing excess IL-6 and granulocyte-macrophage colony-stimulating factor promote the accumulation of MDSCs by inducing Bcl2 expression. Serum-induced MDSCs exert more potent suppressive effects on T cell responses than control MDSCs within both in vivo P. yoelii infection and in vitro serum-treated bone marrow cells experiments. Serum treatment increases the MDSC inhibitory effect, which is dependent on Arg1 expression. Moreover, mechanistic studies reveal that the serum effects are mediated by JAK/STAT3 signaling. By inhibiting STAT3 phosphorylation with the JAK inhibitor JSI-124, effects of serum on MDSCs are almost eliminated. In vivo depletion of MDSCs with anti-Gr-1 or 5-fluorouracil significantly reduces the parasitemia and promotes Th1 immune response in P. yoelii-infected C57BL/6 mice by upregulating IFN-γ expression. In summary, this study indicates that P. yoelii infection facilitates the accumulation and function of MDSCs by upregulating the expression of Bcl2 and Arg1 via JAK/STAT3 signaling pathway in vivo and in vitro. Manipulating the JAK/STAT3 signaling pathway or depleting MDSCs could be promising therapeutic interventions to treat malaria.

3.
Small ; : e2309796, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38813728

RESUMO

The high-field energy-storage performance of dielectric capacitors has been significantly improved in recent years, yet the high voltage risks of device failure and large cost of insulation technology increase the demand for high-performance dielectric capacitors at finite electric fields. Herein, a unique superparaelectric state filled with polar nanoclusters with various local symmetries for lead-free relaxor ferroelectric capacitors is subtly designed through a simple chemical modification method, successfully realizing a collaborative improvement of polarization hysteresis, maximum polarization, and polarization saturation at moderate electric fields of 20-30 kV mm-1. Therefore, a giant recoverable energy density of ≈5.0 J cm-3 and a high efficiency of ≈82.1% are simultaneously achieved at 30 kV mm-1 in (0.9-x)NaNbO3-0.1BaTiO3-xBiFeO3 lead-free ceramics, showing a breakthrough progress in moderate-field comprehensive energy-storage performances. Moreover, superior charge-discharge performances of high-power density ≈182 MW cm-3, high discharge energy density ≈4.3 J cm-3 and ultra-short discharge time <70 ns as well as excellent temperature stability demonstrate great application potentials for dielectric energy-storage capacitors in pulsed power devices. This work provides an effective and paradigmatic strategy for developing novel lead-free dielectrics with high energy-storage performance under finite electric fields.

4.
Adv Mater ; 36(21): e2313285, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38330176

RESUMO

Taking into account the need for energy conservation, achieving near-zero energy loss, namely ultrahigh efficiency (η), in energy storage capacitors with large recoverable energy storage density (Wrec) plays an important role in applications, which is one of the major challenges in dielectric energy storage field. Here, guided by phase-field simulation, inhomogeneous polarization configuration with multiple symmetries and polarization magnitudes is controlled through aliovalent strongly polar double ion design to establish a strongly disordered state. A record-high η of ≈97.4% is realized in lead-free relaxors with a large Wrec of ≈8.6 J cm-3, which also give a giant Wrec of ≈11.6 J cm-3 with an ultrahigh η of ≈96.1% through high-energy ball milling, showing a breakthrough progress in ceramic capacitors with a maximum figure of merit of 330. This work demonstrates that controlling inhomogeneous polarization configuration is an effective avenue to develop new high-performance near-zero energy loss energy storage capacitors.

5.
Talanta ; 271: 125717, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38281430

RESUMO

The significant role of cell-free DNA (cfDNA) for disease diagnosis, including cancer, has garnered a lot of attention. The challenges of creating target-specific primers and the possibility of false-positive signals make amplification-based detection methods problematic. Fluorescent biosensors based on CRISPR-Cas have been widely established, however they still require an amplification step before they can be used for detection. To detect cfDNA, researchers have created a CRISPR-Cas12a-based nucleic acid amplification-free fluorescent biosensor that uses a combination of fluorescence and colorimetric signaling improved by duplex-specific nuclease (DSN). DSN-assisted signal recycling is initiated in H1@MBs when the target cfDNA activates the CRISPR-Cas12a complex, leading to the degradation of single-strand DNA (ssDNA) sequences. This method has an extremely high detection limit for the BRCA-1 breast cancer gene. In addition to measuring viral DNA in a field-deployable and point-of-care testing (POCT) platform, this fast and highly selective sensor can be used to evaluate additional nucleic acid biomarkers.


Assuntos
Técnicas Biossensoriais , Ácidos Nucleicos Livres , Ácidos Nucleicos , Sistemas CRISPR-Cas , Colorimetria , Corantes , DNA de Cadeia Simples , Endonucleases
6.
Food Chem ; 426: 136527, 2023 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-37336100

RESUMO

Fu brick tea (FBT) is popular for its unique 'fungal flower' aroma, however, its key odor-active compounds are essentially unknown. In this study, the odor-active compounds of "stale-fungal" aroma (CJX), "fresh-fungal" aroma (QJX), and "fermentation-fungal" aroma (FJX) types FBT were extracted and examined by headspace solid phase microextraction (HS-SPME) combined with gas chromatography-mass spectrometry (GC-MS) and gas chromatographyolfactometry (GC-O). A total of 43 volatile and 38 odor-active compounds were identified by these methods. Among them, the content of dihydroactindiolide (4596-13189 µg/L), (E)-linalool oxide (2863-6627 µg/L), and benzyl alcohol (4992-6859 µg/L) were highest. Aroma recombination experiments further verified that these odor-active compounds could be simulated the overall aroma profile of FBT successfully. Furthermore, omission experiments confirmed that 15, 20, and 15 key odor-active compounds in CJX, QJX, and FJX FBT, respectively. This study will provide a theoretical basis for comprehensively understanding the formation of characteristic aromas in FBT.


Assuntos
Odorantes , Compostos Orgânicos Voláteis , Odorantes/análise , Microextração em Fase Sólida/métodos , Cromatografia Gasosa-Espectrometria de Massas/métodos , Chá , Compostos Orgânicos Voláteis/análise , Olfatometria
7.
Nat Commun ; 14(1): 2414, 2023 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-37105995

RESUMO

Enhanced electromechanical response can commonly be found during the crossover from normal to relaxor ferroelectric state, making relaxors to be potential candidates for actuators. In this work, (Pb0.917La0.083)(Zr0.65Ti0.35)0.97925O3 ceramic was taken as a case study, which shows a critical nonergodic state with both double-like P-E loop and irreversible relaxor-normal ferroelectric phase after poling at room temperature. The low-hysteresis linear-like S-P2 loop, in-situ synchrotron X-ray diffraction and transmission electron microscope results suggest that the nonpolar relaxor state acts as a bridge during polarization reorientation process, accompanying which lattice strain contributes to 61.8% of the total strain. In other words, the transformation from normal ferroelectric to nonergodic relaxor state could be triggered by electric field through polarization contraction, which could change to be spontaneously with slightly increasing temperature in the nonergodic relaxor zone. Therefore, pseudo-ergodicity in nonergodic relaxors (i.e. reversible nonergodic-normal ferroelectric phase transition) driven by periodic electric field should be the main mechanism for obtaining large electrostrain close to the nonergodic-ergodic relaxor boundary. This work provides new insights into polarization reorientation process in relaxor ferroelectrics, especially phase instability in nonergodic relaxor zone approaching to freezing temperature.

8.
Nat Chem ; 15(6): 803-814, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37106095

RESUMO

Precise dissection of DNA-protein interactions is essential for elucidating the recognition basis, dynamics and gene regulation mechanism. However, global profiling of weak and dynamic DNA-protein interactions remains a long-standing challenge. Here, we establish the light-induced lysine (K) enabled crosslinking (LIKE-XL) strategy for spatiotemporal and global profiling of DNA-protein interactions. Harnessing unique abilities to capture weak and transient DNA-protein interactions, we demonstrate that LIKE-XL enables the discovery of low-affinity transcription-factor/DNA interactions via sequence-specific DNA baits, determining the binding sites for transcription factors that have been previously unknown. More importantly, we successfully decipher the dynamics of the transcription factor subproteome in response to drug treatment in a time-resolved manner, and find downstream target transcription factors from drug perturbations, providing insight into their dynamic transcriptional networks. The LIKE-XL strategy offers a complementary method to expand the DNA-protein profiling toolbox and map accurate DNA-protein interactomes that were previously inaccessible via non-covalent strategies, for better understanding of protein function in health and disease.


Assuntos
DNA , Fatores de Transcrição , Fatores de Transcrição/química , DNA/química , Aminas/química , Ligação Proteica , Reagentes de Ligações Cruzadas/química
9.
Phys Rev Lett ; 130(7): 076801, 2023 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-36867791

RESUMO

For the first time, the origin of large electrostrain in pseudocubic BiFeO_{3}-based ceramics is verified with direct structural evidence backed by appropriate simulations. We employ advanced structural and microstructural characterizations of BiFeO_{3}-based ceramics that exhibit large electrostrain (>0.4%) to reveal the existence of multiple, nanoscale local symmetries, dominantly tetragonal or orthorhombic, which have a common, averaged direction of polarization over larger, meso- or microscale regions. Phase-field simulations confirm the existence of local nanoscale symmetries, thereby providing a new vision for designing high-performance lead-free ceramics for high-strain actuators.

10.
Food Chem X ; 17: 100551, 2023 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-36845510

RESUMO

The odor-active compounds in Fu-brick tea and their release behaviors during boiling-water were studied. Fifty-one odor-active compounds were identified, and their release behaviors were identified by continuously recovering 16 sections of condensed water combined with sensory, instrumental, and nonlinear curve fitting analysis. The odor intensities of condensed water and the concentrations of odor-active compounds could be significantly fitted (p < 0.01) to power-function type curves. Hydrocarbons showed the fastest release rate, while organic acids showed the slowest. The release rates had very little correlation with their concentrations, molecular weights, and boiling points. Most odor-active compounds (≥70 %) released need to evaporate more than 24 % of the added water during boiling-water extraction. Meanwhile, on the basis of odor activity value (OAV) calculation, the aroma recombination experiments were performed to explore the odor-active compounds that made major contributions to the formation of the aroma profile of each condensed water.

11.
Small ; 19(14): e2206840, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36625285

RESUMO

Electrostatic capacitors are emerging as a highly promising technology for large-scale energy storage applications. However, it remains a significant challenge to improve their energy densities. Here, an effective strategy of introducing non-isovalent ions into the BiFeO3 -based (BFO) ceramic to improve energy storage capability via delaying polarization saturation is demonstrated. Accordingly, an ultra-high energy density of up to 7.4 J cm-3 and high efficiency ≈ 81% at 680 kV m-1 are realized, which is one of the best energy storage performances recorded for BFO-based ceramics. The outstanding comprehensive energy storage performance is attributed to inhibiting the polarization hysteresis resulting from generation ergodic relaxor zone and random field, and generating highly-delayed polarization saturation with continuously-increased polarization magnitudes with the electric field of supercritical evolution. The contributions demonstrate that delaying the polarization saturation is a consideration for designing the next generation of lead-free dielectric materials with ultra-high energy storage performance.

12.
J Phys Condens Matter ; 34(41)2022 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-35868294

RESUMO

Two-dimensional intrinsic antiferromagnetic semiconductors are expected to stand out in the spintronic field. The present work finds the monolayer T'-MoTeI is intrinsically an antiferromagnetic semiconductor by using first-principles calculation. Firstly, the dimerized distortion of the Mo atoms causes T'-MoTeI to have dynamic stability, which is different from the small imaginary frequency in the phonon spectrum of T-MoTeI. Secondly, T'-MoTeI is an indirect-bandgap semiconductor with 1.35 eV. Finally, in the systematic study of strain effects, there are significant changes in the electronic structure as well as the bandgap, but the antiferromagnetic ground state is not affected. Monte Carlo simulations predict that the Néel temperature of T'-MoTeI is 95 K. The results suggest that the monolayer T'-MoTeI can be a potential candidate for spintronics applications.

13.
Cell Signal ; 96: 110373, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35640821

RESUMO

BACKGROUND: Prostate cancer is one of the most common malignancies in men. Members of the elongation of the very-long-chain fatty acid (ELOVL) gene family have been reported to participate in the occurrence and development of various cancers. However, the function of ELOVL gene family members (ELOVLs) in prostate cancer has not been fully elucidated. METHODS: The mRNA expression and prognostic value of ELOVLs in prostate cancer were analyzed using the GEPIA database. The Oncomine database and PrognoScan database were used to further verify the mRNA expression level and prognostic value of ELOVL2 in prostate cancer. RT-qPCR and Western blotting were used to validate the expression levels of ELOVL2 in four prostate cancer cell lines. Immunohistochemistry was performed to detect the ELOVL2 protein expression levels in prostate cancer tissues. Coexpression analysis in the cBioPortal database and enrichment analysis in Kyoto Encyclopedia of Genes and Genomes (KEGG), CCK8, colony formation, and transwell assays were used to identify the functions and mechanisms of ELOVL2. RESULTS: ELOVL2 expression was upregulated in prostate cancer tissues compared with normal tissues. High expression of ELOVL2 indicated a better prognosis in prostate cancer patients. ELOVL2 expression was negatively correlated with Gleason score. Knockdown of ELOVL2 promoted cell proliferation, colony formation, migration, invasion, and the growth of subcutaneous xenografts and activated the PI3K/Akt signaling pathway by downregulating INPP4B, while overexpression of ELOVL2 reversed these effects. In addition, overexpression of INPP4B blocked the promoting effect of sh-ELOVL2 on cell proliferation, colony formation, migration, invasion, and the PI3K/Akt signaling pathway. CONCLUSIONS: Our findings suggest that ELOVL2 might be a prognostic biomarker and therapeutic target for prostate cancer.


Assuntos
Elongases de Ácidos Graxos/metabolismo , Neoplasias da Próstata , Proteínas Proto-Oncogênicas c-akt , Linhagem Celular Tumoral , Movimento Celular/genética , Proliferação de Células/genética , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Fosfatidilinositol 3-Quinases/metabolismo , Monoéster Fosfórico Hidrolases/metabolismo , Neoplasias da Próstata/patologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , RNA Mensageiro
14.
Sci Adv ; 8(14): eabl9088, 2022 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-35385309

RESUMO

The devil's staircase, describing step-like function for two competing frequencies, is well known over a wide range of dynamic systems including Huyghens' clocks, Josephson junction, and chemical reaction. In condensed matter physics, the devil's staircase has been observed in spatially modulated structures, such as magnetic ordering. It draws widespread attentions because it plays a crucial role in the fascinating phenomena including phase-locking behaviors, commensurate-incommensurate phase transition, and spin-valve effect. Here, we report the observation of polymorphic phase transitions consisting of several steps in PbZrO3-based system-namely, electric devil's staircase-originated from competing ferroelectric and antiferroelectric interactions. We fully characterize a specific electric dipole configuration by decomposing this competitive interaction in terms of basic structure and modulation function. Of particular interest is that the occurrence of many degenerate electric dipole configurations in devil's staircase enables superior energy storage performance. These observations are of great significance for exploring more substantive magnetic-electric correspondence and engineering practical high-power antiferroelectric capacitors.

15.
Nat Commun ; 13(1): 1390, 2022 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-35296672

RESUMO

Phase boundary provides a fertile ground for exploring emergent phenomena and understanding order parameters couplings in condensed-matter physics. In Pb(Zr1-xTix)O3, there are two types of composition-dependent phase boundary with both technological and scientific importance, i.e. morphotropic phase boundary (MPB) separating polar regimes into different symmetry and ferroelectric/antiferroelectric (FE/AFE) phase boundary dividing polar and antipolar dipole configurations. In contrast with extensive studies on MPB, FE/AFE phase boundary is far less explored. Here, we apply atomic-scale imaging and Rietveld refinement to directly demonstrate the intermediate phase at FE/AFE phase boundary exhibits a rare multipolar Pb-cations ordering, i.e. coexistence of antipolar or polar displacement, which manifests itself in both periodically gradient lattice spacing and anomalous initial hysteresis loop. In-situ electron/neutron diffraction reveals that the same parent intermediate phase can transform into either FE or AFE state depending on suppression of antipolar or polar displacement, coupling with the evolution of long-/short-range oxygen octahedra tilts. First-principle calculations further show that the transition between AFE and FE phase can occur in a low-energy pathway via the intermediate phase. These findings enrich the structural understanding of FE/AFE phase boundary in perovskite oxides.

16.
Genome Res ; 32(3): 534-544, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35105668

RESUMO

Enhancer-promoter communication is known to regulate spatiotemporal dynamics of gene expression. Several methods are available to capture enhancer-promoter interactions, but they either require large amounts of starting materials and are costly, or provide a relative low resolution in chromatin contact maps. Here, we present nicking enzyme-assisted open chromatin interaction capture (NicE-C), a method that leverages nicking enzyme-mediated open chromatin profiling and chromosome conformation capture to enable robust and cost-effective detection of open chromatin interactions at high resolution, especially enhancer-promoter interactions. Using TNF stimulation and mouse kidney aging as models, we applied NicE-C to reveal characteristics of dynamic enhancer-promoter interactions.


Assuntos
Cromatina , Elementos Facilitadores Genéticos , Animais , Cromatina/genética , Cromossomos/genética , Camundongos , Regiões Promotoras Genéticas
17.
Foods ; 12(1)2022 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-36613243

RESUMO

Yellow tea is one of the six major tea categories in China. The floral fragrance type, high-fired fragrance type, fresh fragrance type, and corn-like fragrance type were the main aroma types of yellow tea screened by QDA. A total of 103 volatiles were identified in yellow teas by HS-SPME/GC-MS analysis. Using multivariate analysis and OAVs, forty-seven aroma compounds were identified as key aroma compounds for the formation of different aroma types of yellow teas. Among them, 8, 14, 7, and 18 key aroma compounds played an important role in the formation of aroma characteristics of floral fragrance, high-fired fragrance, fresh fragrance, and corn-like fragrance types of yellow teas, respectively. Furthermore, PLS analysis revealed that 12 aroma compounds were the key contributors to the 'floral and fruity' and 'sweet' attributes, five aroma compounds contributed to the 'roasted' attribute, and four aroma compounds related to the 'fresh' and 'grassy' attributes. This study provides new insights into the aroma characteristics formation of different aroma types of yellow teas and will provide a valuable theoretical basis for improving the flavor quality of yellow tea during the manufacturing process.

18.
ACS Appl Mater Interfaces ; 13(50): 60241-60249, 2021 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-34881567

RESUMO

Antiferroelectric materials has become one of the most promising candidates for pulsed power capacitors. The polarization versus electric-field hysteresis loop is the key electrical property for evaluating their energy-storage performance. Here, we applied in situ biasing transmission electron microscopy to decode two representative energy-storage behaviors-namely, multiple and double hysteresis loops-in (Pb,La)(Zr,Sn,Ti)O3 system. Simultaneous structural examination and domain/defects observation establish a direct relationship between phase transitions and hysteresis loops. Sustaining a smaller period of modulated structure to a certain applied electric field and then undergoing additional transitions among varying antiferroelectric phases with increasing modulation periods before the final antiferroelectric-ferroelectric transition leads to the favorable multiple-loop configuration that realizes a high energy-storage performance. Such phenomenon is described by a model in terms of defect-driven phase transition. The distinctive mechanisms of multiple phase transition will inspire future composition-design for high switch-fielding antiferroelectric materials.

19.
Transl Androl Urol ; 10(1): 243-257, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33532314

RESUMO

BACKGROUND: Non-obstructive azoospermia (NOA) is a disease related to spermatogenic disorders. Currently, the specific etiological mechanism of NOA is unclear. This study aimed to use integrated bioinformatics to screen biomarkers and pathways involved in NOA and reveal their potential molecular mechanisms. METHODS: GSE145467 and GSE108886 gene expression profiles were obtained from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) between NOA tissues and matched obstructive azoospermia (OA) tissues were identified using the GEO2R tool. Common DEGs in the two datasets were screened out by the VennDiagram package. For the functional annotation of common DEGs, DAVID v.6.8 was used to perform Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis. In accordance with data collected from the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) database, a protein-protein interaction (PPI) network was constructed by Cytoscape. Cytohubba in Cytoscape was used to screen the hub genes. Furthermore, the hub genes were validated based on a separate dataset, GSE9210. Finally, potential micro RNAs (miRNAs) of hub genes were predicted by miRWalk 3.0. RESULTS: A total of 816 common DEGs, including 52 common upregulated and 764 common downregulated genes in two datasets, were screened out. Some of the more important of these pathways, including focal adhesion, PI3K-Akt signaling pathway, cell cycle, oocyte meiosis, AMP-activated protein kinase (AMPK) signaling pathway, FoxO signaling pathway, and Huntington disease, were involved in spermatogenesis. We further identified the top 20 hub genes from the PPI network, including CCNB2, DYNLL2, HMMR, NEK2, KIF15, DLGAP5, NUF2, TTK, PLK4, PTTG1, PBK, CEP55, CDKN3, CDC25C, MCM4, DNAI1, TYMS, PPP2R1B, DNAI2, and DYNLRB2, which were all downregulated genes. In addition, potential miRNAs of hub genes, including hsa-miR-3666, hsa-miR-130b-3p, hsa-miR-15b-5p, hsa-miR-6838-5p, and hsa-miR-195-5p, were screened out. CONCLUSIONS: Taken together, the identification of the above hub genes, miRNAs and pathways will help us better understand the mechanisms associated with NOA, and provide potential biomarkers and therapeutic targets for NOA.

20.
Gene ; 765: 145045, 2021 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-32777524

RESUMO

To find the variant spectrum of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and evaluate its frequent variants in Chinese congenital absence of vas deferens (CAVD) patients. A total of 276 patients with azoospermia and CAVD (aged from 21 to 44 years old) were investigated from May 2013 to September 2019 in the Third Affiliated Hospital of Sun Yat-sen University. Additionally, 50 healthy, unrelated volunteers were recruited as controls (aged from 21 to 46 years old). The 5'-UTR, exons and their flanking side of the CFTR gene were sequenced by high-throughput sequencing technology. The results were compared with those retrieved from the Ensembl Genome Browser. In addition, all 13 novel variants were further confirmed independently by Sanger sequencing and evaluated in the bioinformatics web servers. A schematic of the variant spectrum of the CFTR gene, including 13 novel variants (12 in CAVD patients, one in the control group), is shown, and the frequent variants in Chinese CAVD patients were 5 T (27.54%), c.-8G > C (7.25%), p.Q1352H (5.98%), and p.I556V (3.08%). 5 T was found to be the most frequent variant. p.Q1352H had a significantly high allelic frequency in CAVD patients (P < 0.05). c.-8G > C and p.I556V had high allelic frequencies but showed no difference between patients and controls (P > 0.05). p.Q1352H is the most common and important missense variant in Chinese patients with CAVD, while the pathological effects of C.-8G > C and p.I556V may be weak after evaluation.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Doenças Urogenitais Masculinas/genética , Ducto Deferente/anormalidades , Adulto , Alelos , Povo Asiático/genética , Azoospermia/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Análise Mutacional de DNA/métodos , Éxons/genética , Frequência do Gene/genética , Humanos , Infertilidade Masculina/genética , Masculino , Doenças Urogenitais Masculinas/metabolismo , Mutação/genética , Ducto Deferente/metabolismo
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