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The novel KIR2DL3*00111 allele differs from the closest allele KIR2DL3*00101 by a single silent mutation.
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Receptores KIR2DL3 , Humanos , Alelos , Sequência de Bases , China , População do Leste Asiático , Éxons , Receptores KIR2DL3/genética , Alinhamento de Sequência , Análise de Sequência de DNA/métodosRESUMO
The novel KIR2DL3*037 allele differs from the closest allele KIR2DL3*00101 by a single missense mutation.
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Alelos , Povo Asiático , Mutação de Sentido Incorreto , Receptores KIR2DL3 , Análise de Sequência de DNA , Humanos , Povo Asiático/genética , Receptores KIR2DL3/genética , Análise de Sequência de DNA/métodos , Sequência de Bases , Éxons , Alinhamento de Sequência , Teste de Histocompatibilidade , Códon , População do Leste AsiáticoRESUMO
The novel KIR2DL3*00112 allele differs from the closest allele KIR2DL3*00101 by a single same sense mutation.
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Alelos , Éxons , Receptores KIR2DL3 , Humanos , Receptores KIR2DL3/genética , Sequência de Bases , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade , Polimorfismo de Nucleotídeo Único , Mutação Puntual , Alinhamento de SequênciaRESUMO
A novel TiO2-CsPbBr3(Q) photocatalyst is proposed and rationally constructed, where CsPbBr3 perovskite quantum dots (QDs) of various sizes inside mesopore TiO2 (M-TiO2) are integrated. These perovskite QDs, generated in situ within M-TiO2, establish a type-II homojunction. Interestingly, a Z-scheme heterojunction is simultaneously formed at the interface between CsPbBr3 and TiO2. Due to the coexistence of the type-II homojunction and the Z-scheme heterojunction, photogenerated electrons are effectively transferred from TiO2 to CsPbBr3, thereby suppressing carrier recombination and thus enhancing the degradation of rhodamine B (RhB). Compared with pure CsPbBr3 and TiO2, TiO2-CsPbBr3(Q) shows significantly enhanced photocatalytic performance for RhB degradation. The degradation efficiency of RhB in the presence of the TiO2-CsPbBr3(Q) attains 97.7% in 5 min under light illumination, representing the highest efficiency observed among photocatalysts based on TiO2. This study will facilitate the development of superior semiconductor catalysts for photocatalytic applications.
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OBJECTIVE: To investigate the accuracy of next-generation sequencing technology (NGS) in detecting the polymorphisms of HLA-DRB1, DQB1, DQA1, DRB3, DRB4, DRB5, DPA1 and DPB1 alleles in randomly-selected unrelated healthy individuals from Shenzhen Han population, investigate the potential reason for HLA-DRB1 allele dropout in routine NGS, and establish an internal quality control system. METHODS: NGS-based HLA class II genotyping was performed on 1 012 samples using the MiSeqDxTM platform. The suspected missed alleles indicated by the quality control software and HLA-DRB1 homozygotes were confirmed by PCR-SSOP or PCR-SBT methods. RESULTS: A total of 139 alleles were detected, including HLA-DRB1(45), DRB3(7), DRB4(5), DRB5(7), DQA1(17), DQB1(21), DPA1(10) and DPB1(27). HLA-DRB1*09:01(17.09%),15:01(10.72%); DRB3*02:02(25.99%),03:01(10.18%); DRB4*01:03(36.46%); DRB5*01:01(15.42%); DQA1*01:02(20.01%),03:02(17.19%); DQB1*03:01(19.47%),03:03(17.98%), 05:02(11.66%), 06:01(10.67%); DPA1*02:02(54.45%), 01:03(31.18%) and DPB1*05:01(39.13%), 02:01(16.90%) alleles were the most common alleles in Shenzhen Han population (frequencies >10%). There was no statistical difference between the gene frequencies of HLA-DRB1 and DQB1 loci in our study. The HLA Common and Well-Documented Alleles in China (CWD2.4) (χ2=12.68, P >0.05). 94 cases of HLA-DRB1 homozygous samples detected by NGS were retested by PCR-SSOP or SBT method, and one case of allele dropout at HLA-DRB1 locus was found. SBT method confirmed that the allele of DRB1*04:03 was missed. The laboratory internal quality control system was established. Two cases of new alleles were detected and named by WHO Nomenclature Committee for Factors of the HLA System. CONCLUSION: The HLA genotyping results based on NGS showed a significantly lower ambiguity rate. The HLA class II alleles exhibit genetic polymorphism in the Han population of unrelated healthy individuals in Shenzhen. The independent method based on NGS in clinical histocompatibility testing has limitations and requires internal quality control strategies to avoid allele-dropout events.
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População do Leste Asiático , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Antígenos de Histocompatibilidade Classe II , Humanos , Alelos , Frequência do Gene , Polimorfismo Genético , População do Leste Asiático/genética , Antígenos de Histocompatibilidade Classe II/genéticaRESUMO
Perovskite nanoplatelets (NPLs), as a promising material to achieve pure blue emission, have attracted significant attention in high gamut displays. However, the high surface-to-volume ratio and the loosely connected ligands of NPLs make them susceptible to degradation from light, air and heat. As a result, NPLs often exhibit low photoluminescence (PL) intensity and instability. Here, an Mn-ligand passivation strategy is proposed, in which Mn-doped DMAPbBr3 is used as a precursor. During the perovskite transformation, Mn2+ ions migrate from the lattice of DMAPbBr3 to the surface of CsPbBr3 NPLs, which have strong binding forces with ligands. The final products Mn-CsPbBr3 (M-CPB) NPLs are then acquired by the ligand-induced ripening growth process, which not only exhibit pure blue emission with narrow full width at half maximum (FWHM), but also possess near-unity PL quantum yields (QYs). Besides, M-CPB NPLs show excellent stability due to the strong Mn-ligand passivation layer. Based on the new growth mechanism discovery, the reaction time can be shortened to several minutes by heating. The innovative growth model proposed in this work will provide a paradigm for designing and optimizing future synthesis schemes.
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Ship detection is vital for maritime safety and vessel monitoring, but challenges like false and missed detections persist, particularly in complex backgrounds, multiple scales, and adverse weather conditions. This paper presents YOLO-Vessel, a ship detection model built upon YOLOv7, which incorporates several innovations to improve its performance. First, we devised a novel backbone network structure called Efficient Layer Aggregation Networks and Omni-Dimensional Dynamic Convolution (ELAN-ODConv). This architecture effectively addresses the complex background interference commonly encountered in maritime ship images, thereby improving the model's feature extraction capabilities. Additionally, we introduce the space-to-depth structure in the head network, which can solve the problem of small ship targets in images that are difficult to detect. Furthermore, we introduced ASFFPredict, a predictive network structure addressing scale variation among ship types, bolstering multiscale ship target detection. Experimental results demonstrate YOLO-Vessel's effectiveness, achieving a 78.3% mean average precision (mAP), surpassing YOLOv7 by 2.3% and Faster R-CNN by 11.6%. It maintains real-time detection at 8.0 ms/frame, meeting real-time ship detection needs. Evaluation in adverse weather conditions confirms YOLO-Vessel's superiority in ship detection, offering a robust solution to maritime challenges and enhancing marine safety and vessel monitoring.
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Traumatic spinal cord injury (TSCI) is a significant public health challenge that has an adverse impact on functional independence, quality of life, and life expectancy. Management of people's chronic conditions is a key aspect of contemporary medical practice. Our study was an open label, single arm, prospective pilot study to evaluate the feasibility of treating people with TSCI. The study intervention was treatment with oral selenium and vitamin E. Participants were 18 years or older and experienced a TSCI at least one year prior to enrollment. Daily doses of 50 mcg of selenium and 400 IU of vitamin E were administered. Participants had radiologic (MRI tractography) and clinical (ASIA) assessments prior to initiating treatment, and these assessments were repeated after one year of treatment. Four subjects completed the full twelve-month study. Adherence, based on pill counts, was approximately 75% in all subjects. There were no adverse events related to study medications. During the treatment period, subjects reported improvement in certain symptoms. There was no significant difference in ASIA scores before and after the intervention. Combination treatment with vitamin E and selenium has been demonstrated as safe for TSCI patients. It is possible to use DTI values to locate the epicenter of a lesion as well as gauge the extent of injury. MRI tractography may serve as a meaningful surrogate endpoint. The results of this study suggest that it is feasible to conduct a larger long-term clinical trial to evaluate the efficacy of combination treatment of TSCI.
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OBJECTIVE: To study the genetic polymorphisms of short-tandem repeats (STR) for the D13S317 locus among an ethnic Han Chinese population and verify a novel tri-allelic pattern identified for the locus. METHODS: A total of 378 paternity test cases from Guangdong Forensic Authentication Institute from October 17, 2017 to December 28, 2017 were selected as the study subjects. A GlobalFilerTM Express kit was used for the STR genotyping. Samples suspected for having a novel tri-allelic pattern were verified with a PowerPlex 21 kit. Potential variant of the primer-binding region and flanking sequences underlying the tri-allelic pattern was excluded by molecular cloning and sequencing. RESULTS: Six alleles were detected for the D13S317 locus, with the characteristic distribution frequencies being 8 (29.1%), 9 (13.1%), 10 (15.21%), 11 (24.21%), 12 (13.89%) and 13 (3.44%), respectively. In one of the families, the D13S317 locus of the proband was suspected to harbor a triband allele (8, 9, 10). A re-test has confirmed the result of initial test. Molecular cloning and sequencing analysis of the D13S317 locus in the proband and his daughter has failed to find allelic variants in the primer-binding region and flanking sequence, which has confirmed the novel tri-allelic pattern for the locus. CONCLUSION: A novel type 2 tri-allelic pattern (8, 9, 10) at the D13S317 locus has been identified among the ethnic Han Chinese population. The pattern has not been transmitted to the female offspring, and has been included in the international STRBase database for the first time.
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População do Leste Asiático , Polimorfismo Genético , Humanos , Alelos , China , Clonagem Molecular , Frequência do Gene , Genética Populacional , Repetições de Microssatélites , População do Leste Asiático/genéticaRESUMO
Mn-based perovskites have become a new candidate material for backlight display applications. However, low efficiency and poor stability are the key problems limiting the application of Mn-based perovskites. In this work, Zn-doped and SiO2-encapsulated Cs3MnBr5, denoted as Cs3Mn0.93Zn0.07Br5@SiO2 (CMZBS), was successfully synthesized to improve the photoluminescence quantum yield (PLQY) and stability. After Zn doping, the PLQY increased from 51% to 72% due to the reduction in the energy transfer between [MnBr4]2-. The PLQY can be further improved to 80% after coating SiO2. Compared with Cs3MnBr5 (CMB), CMZBS showed better stability against thermal, air, light, and polar solvents (ethanol and isopropanol). In addition, a white LED (WLED) device with a CIE of (0.323, 0.325) was fabricated by integrating CMZBS and the red phosphor K2SiF6:Mn4+ on a 465 nm blue GaN chip, which exhibited a high luminous efficiency of 92 lm W-1 and excellent stability, demonstrating its great potential application in wide color gamut displays.
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Cytoplasmic FAM21 works as a guiding protein in Wiskott-Aldrich Syndrome Protein and SCAR Homolog (WASH) complex by linking WASH complex to endosomes through its interaction with retromer. Recently, we have reported that nuclear WASH localizes to DNA double strand break (DSB) sites to promote DNA repair through non-homologous end-joining (NHEJ). However, whether FAM21, the close partner of WASH, is involved in the nuclear WASH localization and DNA repair remains to be clarified. Here, we show that FAM21 interacts with Ku and the interaction between C-terminal FAM21 and Ku is essential for its recruitment to DSB sites. Moreover, FAM21 depletion led to decreases in WASH recruitment to damaged DNA and repair capacity upon DNA damage. Taken together, these results reveal that FAM21 promotes DNA repair by orchestrating the recruitment of WASH to DSB sites, providing a mechanistic insight into WASH-dependent DNA DSB repair.
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Reparo do DNA , Proteínas , Reparo do DNA por Junção de Extremidades , Dano ao DNA , DNA , Autoantígeno KuRESUMO
Prior evidence has suggested the alleviatory effect of metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) on neuroinflammation in neurodegenerative diseases. This study primarily investigates the underlying mechanism of how the long non-coding RNA MALAT1 affects neuronal apoptosis in the hippocampus of mice with autism spectrum disorder (ASD). The findings demonstrate that CASP3 is highly expressed while MALAT1 is downregulated in the hippocampal neurons of autistic mice. MALAT1 mainly localizes within the cell nucleus and recruits DNA methyltransferases (including DNMT1, DNMT3a, and DNMT3b) to the promoter region of CASP3, promoting its methylation and further inhibiting its expression. In vitro experiments reveal that reducing MALAT1 expression promotes the expression of CASP3 and Bax while suppressing Bcl-2 expression, thereby enhancing cellular apoptosis. Conversely, increasing MALAT1 expression yields the opposite effect. Consequently, these results further confirm the role of MALAT1 in suppressing neuronal apoptosis in the hippocampus of mice with ASD through the regulation of CASP3 promoter methylation. Thus, this research unveils the significant roles of MALAT1 and CASP3 in the pathogenesis of ASD, offering new possibilities for future therapeutic interventions.
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Transtorno do Espectro Autista , Transtorno Autístico , Caspase 3 , RNA Longo não Codificante , Animais , Camundongos , Apoptose/genética , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/metabolismo , Transtorno Autístico/genética , Transtorno Autístico/metabolismo , Caspase 3/metabolismo , Proliferação de Células , Modelos Animais de Doenças , Metilação de DNA , Hipocampo/metabolismo , Neurônios/metabolismo , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismoRESUMO
Stimuli-responsive luminescent materials have received great attention for their potential application in anti-counterfeiting and information encryption. Manganese halide hybrids have been considered an efficient stimuli-responsive luminescent material due to their low price and adjustable photoluminescence (PL). However, the photoluminescence quantum yield (PLQY) of PEA2MnBr4 is relatively low. Herein, Zn2+- and Pb2+-doped PEA2MnBr4 samples are synthesized, and show an intense green emission and orange emission, respectively. After doping with Zn2+, the PLQY of PEA2MnBr4 is elevated from 9% to 40%. We have found that green emitting Zn2+-doped PEA2MnBr4 could transform to a pink color after being exposed to air for several seconds and the reversible transformation from pink to green was achieved by using heating treatment. Benefiting from this property, an anti-counterfeiting label is fabricated, which exhibits excellent "pink-green-pink" cycle capability. Pb2+-doped PEA2Mn0.88Zn0.12Br4 is acquired by cation exchange reaction, which shows intense orange emission with a high QY of 85%. The PL of Pb2+-doped PEA2Mn0.88Zn0.12Br4 decreases with increasing temperature. Hence, the encrypted multilayer composite film is fabricated relying on the different thermal responses of Zn2+- and Pb2+-doped PEA2MnBr4, whereby the encrypted information can be read out by thermal treatment.
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OBJECTIVE: To develop a polymerase chain reaction-sequence specific primer (PCR-SSP) method for simultaneous amplification and identification of the KIR genes among Chinese population. METHODS: Peripheral blood samples from 132 healthy donors who had given blood at Shenzhen Blood Center from January 2015 to November 2015 were selected as the study subjects. Based on the polymorphism and single nucleotide polymorphism (SNP) information of high-resolution KIR alleles in the Chinese population and the IPD-KIR database, specific primers were designed to amplify all the 16 KIR genes and the 2DS4-Normal and 2DS4-Deleted subtypes. The specificity of each pair of PCR primers was verified by using samples with known KIR genotypes. During PCR amplification of the KIR gene, co-amplification the fragment of human growth hormone (HGH) gene by multiplex PCR was used as the internal control to prevent false negative results. A total of 132 samples with known KIR genotypes were randomly selected for blind inspection to verify the reliability of the developed method. RESULTS: The designed primers can specifically amplify the corresponding KIR genes, with clear and bright bands for the internal control and KIR genes. The results of detection are fully consistent with the known results. CONCLUSION: The KIR PCR-SSP method established in this study can yield accurate results for the identification of the presence of KIR genes.
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Polimorfismo Genético , Receptores KIR , Humanos , Receptores KIR/genética , Reprodutibilidade dos Testes , Genótipo , Reação em Cadeia da Polimerase MultiplexRESUMO
The novel KIR3DL3*118 allele differs from the closest allele KIR3DL3*01002 by a single missense mutation at CDS nt502 A > G in exon 4.
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Mutação de Sentido Incorreto , Receptores KIR , Humanos , Alelos , Sequência de Bases , População do Leste Asiático/genética , Receptores KIR/genéticaRESUMO
The novel KIR3DL3*116 allele differs from the closest allele KIR3DL3*00902 by a single missense mutation.
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Receptores KIR , Humanos , Alelos , Sequência de Bases , População do Leste Asiático/genética , Receptores KIR/genética , Análise de Sequência de DNA , Mutação de Sentido IncorretoRESUMO
The novel KIR3DL3*117 allele differs from the closest allele KIR3DL3*01002 by two mutations in exon 3.
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Receptores KIR , Humanos , Alelos , População do Leste Asiático/genética , Éxons/genética , Mutação , Receptores KIR/genéticaRESUMO
PURPOSE: Colorectal cancer is one of the most commonly diagnosed and deadly cancers worldwide. Epidemiological studies on the relationship between folate intake and the risk of colorectal cancer have reported inconsistent findings since folate fortification in the USA. For this situation, we conducted a large number of data analyses to study the relationship between folate intake and colorectal cancer risk. METHODS: PubMed and EMBASE databases were used to search the literature systematically. Eligible studies were reviewed and meta-analyzed to assess the relationship. RESULTS: A total of 24 cohort studies involving 37 280 patients and 6 165 894 individuals were included. The results showed that high folate intake was associated with a reduced risk of colorectal cancer. The combined relative risk (RR) for the highest intake compared with the lowest was 0.88 [95% confidence interval (CI), 0.83-0.92, P = 10 -4 ). Further studies indicated that the increase of folate intake may decrease the risk of colorectal cancer in people with medium or high alcohol consumption (RR = 0.97, 95% CI: 0.96-0.99, P = 0.008; RR = 0.95, 95% CI: 0.92-0.98, P = 0.003), but not in non-drinkers (RR = 1.00, 95% CI: 0.98-1.02, P = 0.827). Next, high folate intake may decrease the risk of colon cancer (RR = 0.86, 95% CI: 0.81-0.92, P = 10 -4 ) but not rectal cancer (RR = 0.92, 95% CI: 0.84-1.02, P = 0.112). Additionally, the result that high folate intake may decrease the risk of colorectal cancer was observed in the USA and Europe but not in other regions. CONCLUSION: High folate intake may be protective against colon cancer, particularly in people with middle or high alcohol consumption, but it still needs to be further confirmed.
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Neoplasias do Colo , Neoplasias Colorretais , Humanos , Ácido Fólico , Estudos Prospectivos , Dieta , Neoplasias do Colo/prevenção & controle , Risco , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/etiologia , Neoplasias Colorretais/prevenção & controle , Fatores de RiscoRESUMO
The novel KIR3DL1*01507 allele differs from the closest allele KIR3DL1*01502 by a single synonymous mutation.
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Receptores KIR3DL1 , Humanos , Alelos , Sequência de Bases , População do Leste Asiático , Teste de Histocompatibilidade , Receptores KIR3DL1/genéticaRESUMO
The novel KIR2DL4*00108 allele differs from the closest allele KIR2DL4*00102 by a single synonymous mutation.