keyword
https://read.qxmd.com/read/38545692/novel-compound-heterozygous-variants-in-ltbp2-associated-with-relative-anterior-microphthalmos
#21
JOURNAL ARTICLE
Peimin Lin, Jie Xu, Ao Miao, Yi Lu, Yongxiang Jiang, Tianyu Zheng
PURPOSE: Relative anterior microphthalmos (RAM) is a rare congenital defect associated with severe vision impairment that is primarily caused by genetic alterations. The purpose of this study was to identify the causative genetic variants in two Chinese families with RAM with an autosomal recessive inheritance pattern. METHODS: DNA samples were obtained from two probands and their family members. Targeted next-generation sequencing (NGS) was used to screen 425 genes associated with inherited eye diseases to identify possible disease-causing variants in the two patients...
March 28, 2024: European Journal of Ophthalmology
https://read.qxmd.com/read/38545620/anti-mir-141-3p-maintains-homeostasis-between-autophagy-and-apoptosis-by-targeting-yy1-in-the-fetal-lumbosacral-defecation-center-of-rats
#22
JOURNAL ARTICLE
Yue Li, Peiqi Liu, Yifan Yao, Weilin Wang, Huimin Jia, Yuzuo Bai, Zhengwei Yuan, Zhonghua Yang
Anorectal malformations (ARMs) are congenital diseases that lead to postoperative fecal incontinence, constipation, and soiling, despite improvements in surgery; however, their pathological mechanisms remain unclear. Here, we report the role of microRNA-141-3p in maintaining homeostasis between apoptosis and autophagy in the lumbosacral defecation center of fetal rats with ARMs. Elevated microRNA-141-3p expression inhibited YIN-YANG-1 expression by binding its 3' UTR, and repressed autophagy and triggered apoptosis simultaneously...
June 11, 2024: Molecular Therapy. Nucleic Acids
https://read.qxmd.com/read/38545484/sphingosine-1-phosphate-inhibition-increases-endoplasmic-reticulum-stress-to-enhance-oxaliplatin-sensitivity-in-pancreatic-cancer
#23
JOURNAL ARTICLE
Zachary Gao, Harinarayanan Janakiraman, Yang Xiao, Sung Wook Kang, Jiangling Dong, Jasmine Choi, Besim Ogretmen, Hyun-Sung Lee, Ernest Ramsay Camp
BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer resistant to current therapies, including oxaliplatin (Oxa). Growing evidence supports the ability of cancers to harness sphingolipid metabolism for survival. Sphingosine-1-phosphate (S1P) is an anti-apoptotic, pro-survival mediator that can influence cellular functions such as endoplasmic reticulum (ER) stress. We hypothesize that PDAC drives dysregulated sphingolipid metabolism and that S1P inhibition can enhance ER stress to improve therapeutic response to Oxa in PDAC...
April 2024: World Journal of Oncology
https://read.qxmd.com/read/38545476/high-ki67-gene-expression-is-associated-with-aggressive-phenotype-in-hepatocellular-carcinoma
#24
JOURNAL ARTICLE
Vicente Ramos-Santillan, Masanori Oshi, Erek Nelson, Itaru Endo, Kazuaki Takabe
BACKGROUND: Hepatocellular carcinoma (HCC) with high Ki67 protein expression, the most commonly used cell proliferation marker, is associated with an aggressive biologic phenotype; however, conventional immunostaining is hampered by variability in institutional protocol, specific antibody probe, and by assessor subjectivity. To this end, we hypothesized that Ki67 gene ( MKi67 ) expression would identify highly proliferative HCC, and clarify its association with oncologic outcome, tumor progression, and immune cell population in the tumor microenvironment (TME)...
April 2024: World Journal of Oncology
https://read.qxmd.com/read/38545470/dna-damage-induced-apoptosis-suppressor-triggers-progression-and-stemness-of-glioma-by-enhancing-lymphoid-enhancer-binding-factor-1-expression
#25
JOURNAL ARTICLE
You Lin Chen, Yi Liu, Yan Xu, An Qiang Yang, Gui Jie Chen, Jin Shan Xing, Hong Wei Su, Li Shang Liao
BACKGROUND: DNA damage-induced apoptosis suppressor (DDIAS) has recently been discovered to induce cancer progression, but its functions and mechanisms in glioma have not been well studied. METHODS: DDIAS expression in glioma tissues was analyzed by the Gene Expression Profiling Interactive Analysis server (GEPIA) and the Gene Expression database of Normal and Tumor tissue 2 (GENT2) databases. The role of DDIAS in glioma progression was studied by short hairpin RNA (shRNA) targeting DDIAS...
April 2024: World Journal of Oncology
https://read.qxmd.com/read/38545440/next-generation-sequencing-metabarcoding-assays-reveal-diverse-bacterial-vector-borne-pathogens-of-mongolian-dogs
#26
JOURNAL ARTICLE
Cassandra Davitt, Lucas G Huggins, Martin Pfeffer, Lkhagvasuren Batchimeg, Malcolm Jones, Banzragch Battur, Anke K Wiethoelter, Rebecca Traub
Bacterial vector-borne pathogens (BVBPs) negatively impact canine health worldwide, with several also being zoonotic, posing an additional disease risk to humans. To date, BVBPs have been reported in humans and various sylvatic and domestic animal hosts across multiple Mongolian aimags (provinces); however, there has been no published data on these pathogens within Mongolia's canine populations. Collection of such data is important given Mongolia's size, diverse number of climatic regions, and large population of dogs, most of which closely share their environment with humans and livestock...
2024: Curr Res Parasitol Vector Borne Dis
https://read.qxmd.com/read/38545395/chromosome-level-genome-of-thymus-mandschuricus-reveals-molecular-mechanism-of-aroma-compounds-biosynthesis
#27
JOURNAL ARTICLE
Lin Jia, Ning Xu, Bin Xia, Wenjie Gao, Qingran Meng, Qiang Li, Ying Sun, Shoubin Xu, Miao He, Huiyan Gu
BACKGROUND: Thymus mandschuricus is an aromatic and medicinal plant with notable antibacterial and antioxidant properties. However, traditional breeding methods rely on phenotypic selection due to a lack of molecular resources. A high-quality reference genome is crucial for marker-assisted breeding, genome editing, and molecular genetics. RESULTS: We utilized PacBio and Hi-C technologies to generate a high-quality chromosome-level reference genome for T. mandschuricus , with a size of 587...
2024: Frontiers in Plant Science
https://read.qxmd.com/read/38545386/simple-promotion-of-cas9-and-cas12a-expression-improves-gene-targeting-via-an-all-in-one-strategy
#28
JOURNAL ARTICLE
Yiqiu Cheng, Lei Zhang, Jing Li, Xiaofei Dang, Jian-Kang Zhu, Hiroaki Shimada, Daisuke Miki
Gene targeting (GT) is a promising tool for precise manipulation of genome sequences, however, GT in seed plants remains a challenging task. The simple and direct way to improve the efficiency of GT via homology-directed repair (HDR) is to increase the frequency of double-strand breaks (DSBs) at target sites in plants. Here we report an all-in-one approach of GT in Arabidopsis by combining a transcriptional and a translational enhancer for the Cas expression. We find that facilitating the expression of Cas9 and Cas12a variant by using enhancers can improve DSB and subsequent knock-in efficiency in the Arabidopsis genome...
2024: Frontiers in Plant Science
https://read.qxmd.com/read/38545147/activation-of-astrocytes-by-anxa2-derived-extracellular-vesicles-from-lung-cancer-cells-affects-aggressiveness-immunotherapy-response-and-microenvironment-of-lung-cancer
#29
JOURNAL ARTICLE
Mudan He, Guogang Xie, Fang Shen, Xingjing Li
BACKGROUND: ANXA2 has been extensively documented in relation to cancer. Nevertheless, the involvement of ANXA2 in lung carcinoma remains uncertain. METHODS: Data from The Cancer Genome Atlas (TCGA) database was downloaded using open-access methods. The examination of publicly available data was conducted utilizing the R software. The mRNA level of specific molecules was detected using Real-time Quantitative PCR (qPCR). The protein level of specific molecules was detected using the Western blot assay...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38545113/the-role-of-dermal-fibroblasts-in-autoimmune-skin-diseases
#30
REVIEW
Zeqi Shi, Zhong Liu, Yujia Wei, Ri Zhang, Yunhua Deng, Dong Li
Fibroblasts are an important subset of mesenchymal cells in maintaining skin homeostasis and resisting harmful stimuli. Meanwhile, fibroblasts modulate immune cell function by secreting cytokines, thereby implicating their involvement in various dermatological conditions such as psoriasis, vitiligo, and atopic dermatitis. Recently, variations in the subtypes of fibroblasts and their expression profiles have been identified in these prevalent autoimmune skin diseases, implying that fibroblasts may exhibit distinct functionalities across different diseases...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38545095/ifn-%C3%AE-enhances-protective-efficacy-against-nocardia-seriolae-infection-in-largemouth-bass-micropterus-salmoides
#31
JOURNAL ARTICLE
Ruying Yu, Weixiang Zhang, Penghui Yu, Jiancheng Zhou, Jianguo Su, Gailing Yuan
INTRODUCTION: Nocardia seriolae adversely impacts a diverse range of fish species, exhibiting significant pathogenic characteristics that substantially impede the progress of aquaculture. N. seriolae infects in fish has a long incubation period, and clinical symptoms are not obvious in the early stages. There is presently no viable and eco-friendly approach to combat the spread of the disease. According to reports, N. seriolae primarily targets macrophages in tissues after infecting fish and can proliferate massively, leading to the death of fish...
2024: Frontiers in Immunology
https://read.qxmd.com/read/38544938/-in-situ-imaging-of-mrna-transcripts-based-on-split-aptamer-and-split-protein-in-living-cells
#32
JOURNAL ARTICLE
Yan Peng, Mengqi Li, Fuyu Gong, Xiaofei Liu, Jirou Xiong, Keran Wang
Messenger RNA (mRNA) is an essential component of cell development and growth. However, the detection of endogenous mRNA in living cells is currently limited. To address this issue, we have developed a novel strategy that comprises split-aptamer and split fluorescent protein dual-color, "turn-on" probes that specifically target mRNA with complementary sequences. Our split-aptamer and split-protein-initiated fluorescence complementation (sAPiFC) approach for live-cell imaging has demonstrated selectivity, stability, and capability for targeting various mRNAs...
March 26, 2024: RSC Advances
https://read.qxmd.com/read/38544910/towards-genomic-newborn-screening-technical-feasibility-of-exome-sequencing-starting-from-dried-blood-spots
#33
JOURNAL ARTICLE
Alessia Mauri, Clarissa Berardo, Davide Biganzoli, Andrea Meta, Sara Benedetti, Federica Rey, Letizia Messa, Gian Vincenzo Zuccotti, Stephana Carelli, Luisella Alberti, Cristina Cereda
Each year thousands of babies are born with rare genetic disorders not identified by current NBS panels, due to programs which are not yet optimal. Next-generation sequencing technologies have the potential to overcome many NBS drawbacks and provide large amounts of molecular data, broadening the number of diseases investigated. Here, we design and set up an NGS-based approach to evaluate the feasibility of NGS from dried blood spot starting from 34 DBSs. After assessing gDNA yield and integrity, libraries were performed using three target enrichment approaches, sequenced on NS500 platform, and analyzed on commercial platform...
June 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38544826/analysis-of-the-expression-of-prdx6-in-patients-with-hepatocellular-carcinoma-and-its-effect-on-the-phenotype-of-hepatocellular-carcinoma-cells
#34
JOURNAL ARTICLE
Runhong Mu, Mingzhu Chang, Chuanbo Feng, Yunhe Cui, Tingyu Li, Chang Liu, Yilin Wang, Xiao Guo
OBJECTIVES: This research aimed to study the expression of PRDX6 mRNA in hepatocellular carcinoma (HCC) and its effect on the prognosis of HCC. Moreover, the effect of PRDX6 gene knockdown on the proliferation, migration, and invasion of HepG2 cells mediated by lentivirus was also examined. This study offers a theoretical and experimental basis for further research on the mechanism of PRDX6 in liver cancer and new methods for clinical diagnosis and treatment. METHODS: RNA sequence data of 369 HCC patients were screened through the TCGA database, and the expression and clinical characteristics of PRDX6 mRNA were analyzed based on high-throughput RNA sequencing data...
February 23, 2024: Current Genomics
https://read.qxmd.com/read/38544682/comparative-assessment-of-nanotrap-and-polyethylene-glycol-based-virus-concentration-in-wastewater-samples
#35
JOURNAL ARTICLE
Kata Farkas, Jessica L Kevill, Rachel C Williams, Igor Pântea, Nicola Ridding, Kathryn Lambert-Slosarska, Nick Woodhall, Jasmine M S Grimsley, Matthew J Wade, Andrew C Singer, Andrew J Weightman, Gareth Cross, Davey L Jones
Wastewater-based epidemiology is now widely used in many countries for the routine monitoring of SARS-CoV-2 and other viruses at a community level. However, efficient sample processing technologies are still under investigation. In this study, we compared the performance of the novel Nanotrap® Microbiome Particles (NMP) concentration method to the commonly used polyethylene glycol (PEG) precipitation method for concentrating viruses from wastewater and their subsequent quantification and sequencing. For this, we first spiked wastewater with SARS-CoV-2, influenza and measles viruses and norovirus and found that the NMP method recovered 0...
2024: FEMS Microbes
https://read.qxmd.com/read/38544667/the-genetically-modified-human-foreskin-fibroblast-cell-line-yhff-8-stably-expressing-cas9-gene-a-lab-resource-report
#36
JOURNAL ARTICLE
Farzad Soheilipour, Sohrab Boozarpour, Shiva Aghaei, Ehsan Farashahi Yazd
BACKGROUND: Stable Cas9 (CRISPR-associated protein 9)-expressing cell lines have emerged as valuable tools in genetic research, enhancing the efficiency of the CRISPR/Cas9 system and streamlining gene editing procedures. These cell lines enable simultaneous editing of multiple genes and reduce the overall editing time. OBJECTIVE: This study aimed to develop a stable human fibroblast cell line capable of genetic conversion into a mutant form, serving as a cellular model for a specific genetic disease...
January 2024: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://read.qxmd.com/read/38544552/identification-and-application-of-an-exocarp-preferential-promoter-for-genetic-engineering-of-tomato-fruit
#37
JOURNAL ARTICLE
Xue-Ming Ruan, Xiangyu Xiong, Jian-Feng Li
Tomato ( Solanum lycopersicum ) is a globally cultivated crop with great economic value. The exocarp determines the appearance of tomato fruit and protects it from various biotic and abiotic challenges at both pre-harvest and post-harvest stages. However, no tomato exocarp-specific promoter is currently available, which hinders exocarp-based genetic engineering. Here, we identified by RNA sequencing and reverse transcription-quantitative PCR analyses that the tomato gene SlPR10 ( PATHOGENESIS RELATED 10 ) was abundantly and predominantly expressed in the exocarp...
March 2024: Horticulture Research
https://read.qxmd.com/read/38544480/wemics-a-single-base-resolution-methylation-quantification-method-for-enhanced-prediction-of-epigenetic-regulation
#38
JOURNAL ARTICLE
Yi Liu, Jiani Yi, Pin Wu, Jun Zhang, Xufan Li, Jia Li, Liyuan Zhou, Yong Liu, Haiming Xu, Enguo Chen, Honghe Zhang, Mingyu Liang, Pengyuan Liu, Xiaoqing Pan, Yan Lu
DNA methylation, an epigenetic mechanism that alters gene expression without changing DNA sequence, is essential for organism development and key biological processes like genomic imprinting and X-chromosome inactivation. Despite tremendous efforts in DNA methylation research, accurate quantification of cytosine methylation remains a challenge. Here, a single-base methylation quantification approach is introduced by weighting methylation of consecutive CpG sites (Wemics) in genomic regions. Wemics quantification of DNA methylation better predicts its regulatory impact on gene transcription and identifies differentially methylated regions (DMRs) with more biological relevance...
March 28, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://read.qxmd.com/read/38543885/potential-intersections-between-lncrna-vascular-cognitive-impairment-and-immunization-strategies-insights-and-future-directions
#39
REVIEW
Yishu Fan, Bo Xiao, Mengqi Zhang
Vascular cognitive impairment (VCI) encompasses a wide range of cognitive disorders stemming from cerebrovascular issues, such as strokes or small vessel disease. These conditions often pose challenges to traditional diagnostic approaches due to their multifactorial nature and varied clinical presentations. Recently, next-generation sequencing (NGS) technologies have provided detailed analyses of long non-coding RNAs (lncRNAs) in the molecular pathobiology of VCI. These new findings help with molecular-based diagnostics and treatments of VCI...
February 28, 2024: Vaccines
https://read.qxmd.com/read/38543832/host-like-rna-elements-regulate-virus-translation
#40
REVIEW
Debjit Khan, Paul L Fox
Viruses are obligate, intracellular parasites that co-opt host cell machineries for propagation. Critical among these machineries are those that translate RNA into protein and their mechanisms of control. Most regulatory mechanisms effectuate their activity by targeting sequence or structural features at the RNA termini, i.e., at the 5' or 3' ends, including the untranslated regions (UTRs). Translation of most eukaryotic mRNAs is initiated by 5' cap-dependent scanning. In contrast, many viruses initiate translation at internal RNA regions at internal ribosome entry sites (IRESs)...
March 20, 2024: Viruses
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