journal
https://read.qxmd.com/read/38836039/identification-molecular-evolution-codon-bias-and-expansion-analysis-of-nlp-transcription-factor-family-in-foxtail-millet-setaria-italica-l-and-closely-related-crops
#41
JOURNAL ARTICLE
Huilong Chen, Fang Liu, Jing Chen, Kexin Ji, Yutong Cui, Weina Ge, Zhenyi Wang
The NODULE-INCEPTION-like protein (NLP) family is a plant-specific transcription factor (TF) family involved in nitrate transport and assimilation in plants, which are essential for improving plant nitrogen use efficiency. Currently, the molecular nature and evolutionary trajectory of NLP genes in the C4 model crop foxtail millet are unknown. Therefore, we performed a comprehensive analysis of NLP and molecular evolution in foxtail millet by scanning the genomes of foxtail millet and representative species of the plant kingdom...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38836038/advances-in-non-coding-rna-in-tendon-injuries
#42
REVIEW
Bin Wang, Qiang Chen, Xiaodi Zou, Ping Zheng, Jie Zhu
Tendons serve as important weight-bearing structures that smoothly transfer forces from muscles to skeletal parts, allowing contracted muscle movements to be translated into corresponding joint movements. For body mechanics, tendon tissue plays an important role. If the tendons are damaged to varying degrees, it can lead to disability or pain in patients. That is to say, tendon injuries havea significant impact on quality of life and deserve our high attention. Compared to other musculoskeletal tissues, tendons are hypovascular and hypo-cellular, and therefore have a greater ability to heal, this will lead to a longer recovery period after injury or even disability, which will significantly affect the quality of life...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38836037/phenotypic-spectrum-of-the-first-belgian-mybpc3-founder-a-large-multi-exon-deletion-with-a-varying-phenotype
#43
JOURNAL ARTICLE
Hanne M Boen, Maaike Alaerts, Lut Van Laer, Johan B Saenen, Inge Goovaerts, Jarl Bastianen, Pieter Koopman, Philippe Vanduynhoven, Elke De Vuyst, Michael Rosseel, Hein Heidbuchel, Emeline M Van Craenenbroeck, Bart Loeys
BACKGROUND: Variants in the MYBPC3 gene are a frequent cause of hypertrophic cardiomyopathy (HCM) but display a large phenotypic heterogeneity. Founder mutations are often believed to be more benign as they prevailed despite potential negative selection pressure. We detected a pathogenic variant in MYBPC3 (del exon 23-26) in several probands. We aimed to assess the presence of a common haplotype and to describe the cardiac characteristics, disease severity and long-term outcome of mutation carriers...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38836036/genetically-predicted-major-depression-causally-increases-the-risk-of-temporomandibular-joint-disorders
#44
JOURNAL ARTICLE
Shiqian Wu, Zhuo Chen, Yawen Zhao, Qiang He, Zhongxiu Yin, Hailiang Yao, Huili Liu, Lihui Yan
OBJECTIVE: Observational studies have reported that mental disorders are comorbid with temporomandibular joint disorder (TMD). However, the causal relationship remains uncertain. To clarify the causal relationship between three common mental illnesses and TMD, we conduct this Mendelian Randomization (MR) study. METHODS: The large-scale genome-wide association studies data of major depression, bipolar disorder and schizophrenia were retrieved from the Psychiatric Genomics Consortium...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38831775/keratin-19-krt19-is-a-novel-marker-gene-for-epicardial-cells
#45
JOURNAL ARTICLE
Juan Xu, Yiting Deng, Guang Li
Epicardial cells regulate heart growth by secreting numerous growth factors and undergoing lineage specification into other cardiac lineages. However, the lack of specific marker genes for epicardial cells has hindered the understanding of this cell type in heart development. Through the analysis of a cardiac single cell mRNA sequencing dataset, we identified a novel epicardial gene named Keratin 19 ( Krt19 ). Further analysis of the expression patterns of Krt19 and Wt1 , a well-known epicardial gene, revealed their preferences in major cardiac cell types...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38831774/genetic-diversity-and-haplotype-distribution-patterns-analysis-of-cytb-and-rag2-sequences-in-rana-hanluica-from-southern-china
#46
JOURNAL ARTICLE
Zeshuai Deng, Yuan Li, Zhiwei Gao, Zhiqiang Zhang, Daode Yang
Rana hanluica : an endemic amphibian of China, is found in the hills and mountains south of the Yangtze River. In this comprehensive study, we collected 162 samples from 14 different localities to delve into the genetic diversity of Rana hanluica using mitochondrial Cytb and nuclear RAG2 as genetic markers. Our findings reveal that the Nanling Mountains, specifically regions like Jiuyi Shan, Jinggang Shan, Mang Shan, and Qiyun Shan, are genetic hotspots harboring remarkable diversity. The research results also indicate that there is gene flow among the various populations of the species, and no distinct population structure has formed, which may be due to migration...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38831773/editorial-plant-growth-promoting-and-associated-microbes-multi-meta-omics-and-applications
#47
EDITORIAL
Mahloro Hope Serepa-Dlamini, Ntakadzeni Edwin Madala, Matsobane Godfrey Tlou
No abstract text is available yet for this article.
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826807/designing-a-multi-epitope-vaccine-against-shigella-dysenteriae-using-immuno-informatics-approach
#48
JOURNAL ARTICLE
Hurria Qureshi, Amina Basheer, Muhammad Faheem, Muhammad Waqar Arshad, Sunil Kumar Rai, Syed Babar Jamal
Shigella dysenteriae has been recognized as the second most prevalent pathogen associated with diarrhea that contains blood, contributing to 12.9% of reported cases, and it is additionally responsible for approximately 200,000 deaths each year. Currently, there is no S. dysenteriae licensed vaccine. Multidrug resistance in all Shigella spp. is a growing concern. Current vaccines, such as O-polysaccharide (OPS) conjugates, are in clinical trials but are ineffective in children but protective in adults. Thus, innovative treatments and vaccines are needed to combat antibiotic resistance...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826806/characteristics-of-phosgene-aspiration-lung-injury-analyzed-based-on-transcriptomics-and-proteomics
#49
JOURNAL ARTICLE
Li-Na Wang, Yi-Ru Shao, Peng-Fei Wang, Jiang Lv, Dai-Kun He
BACKGROUND: Phosgene is a chemical material widely used worldwide. No effective method has been developed to reverse its pathological injuries. Some studies have shown that neuronal inflammation in lung tissue is involved, but the specific mechanism has not been reported. OBJECTIVE: To analyze the expression alterations of whole transcriptome gene sequencing bioinformatics and protein expression profile in lung tissue after phosgene aspiration lung injury (P-ALI) and find the main factors and pathways affecting the prognosis of P-ALI...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826805/whole-genome-resequencing-reveals-genetic-diversity-and-adaptive-evolution-in-chinese-honeybee-apis-cerana-cerana-in-guizhou-china
#50
JOURNAL ARTICLE
Yinchen Wang, Bing Zeng, Mengqing Deng, Tian Zhao, Yan Liao, Rongqing Ren, Hua Wang, Yang Yuan
Introduction: Guizhou Province, characterized by complex and diverse geographic and climatic environments, has rich genetic resources for the Chinese honeybee ( Apis cerana cerana ) and is one of the main bee-producing areas in China. However, research on the genetic diversity of Chinese honeybee in the Guizhou region is very limited, despite implications for conservation of biodiversity. Methods: In this study, we analyzed the genetic diversity, differentiation, and selection signals based on 116 Chinese honeybees from 12 regions in Guizhou Province using whole-genome sequencing...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826804/genetic-determinants-of-serum-bilirubin-using-inferred-native-american-gene-variants-in-chilean-adolescents
#51
JOURNAL ARTICLE
José P Miranda, Ana Pereira, Camila Corvalán, Juan F Miquel, Gigliola Alberti, Juan C Gana, José L Santos
Gene variants in the UGT1A1 gene are strongly associated with circulating bilirubin levels in several populations, as well as other variants of modest effect across the genome. However, the effects of such variants are unknown regarding the Native American ancestry of the admixed Latino population. Our objective was to assess the Native American genetic determinants of serum bilirubin in Chilean admixed adolescents using the local ancestry deconvolution approach. We measured total serum bilirubin levels in 707 adolescents of the Chilean Growth and Obesity Cohort Study (GOCS) and performed high-density genotyping using the Illumina-MEGA array (>1...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826803/genetic-tests-as-the-strongest-motivator-of-cooperation-between-participants-and-biobanks-findings-from-cross-sectional-study
#52
JOURNAL ARTICLE
Anita Majchrowska, Jakub Pawlikowski, Jarosław Sak, Blanka Świerczyńska, Magdalena Suchodolska
INTRODUCTION: The development of the scientific potential linked with biobanking and research on human biological material is highly dependent on the willingness of potential donors to cooperate with entities that collect the material. For this reason, it is crucial to identify the circumstances and factors that may encourage potential participants to donate their biological material. In particular, knowledge of the motivational factors that can be modified by the persons managing a biobank may prove notably important for shaping the organizational and communication policy of the biobank and other scientific institutions...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826802/case-report-clinical-imaging-and-genetic-characteristics-of-type-b-niemann-pick-disease-combined-with-segawa-syndrome-diagnosed-via-dual-gene-sequencing
#53
Fang Wu, Dongying Su, Weisi Wang, Xia Song, Shufeng Fan, Jinzhan Su, Linying Ma, Jianxia Xu, Qinpan Rao
Niemann Pick disease B (NPB) often presents with hepatosplenomegaly and lung pathological changes, but it usually does not present with central nervous system symptoms. This report presents the unique case of a 21-year-old woman with a 10-year history of hard skin and hepatosplenomegaly. Genetic sequencing revealed NPB and also suggested Segawa syndrome. Although symptomatic supportive treatments were administered in an attempt to improve muscle tone and treat the skin sclerosis, their efficacy was not satisfactory, and the patient refused further treatment...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826801/prenatal-diagnosis-of-silver-russell-syndrome-with-8q12-deletion-including-the-plag1-gene-a-case-report-and-review
#54
Ke Wu, Yuying Zhu, Qiumin Zhu
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder. A retrospective analysis predicted that the live birth prevalence of SRS in Estonia is 1:15,886 [Yakoreva et al., Eur J Hum Genet, 2019, 27(11), 1649-1658]. The most common causative genetic mechanism in the proband is loss of paternal methylation in the imprinted control region 1 (ICR1) at 11p15.5 chromosome. A few studies suggested that inherited or de novo loss-of-function alterations of the PLAG1 gene, including the whole-gene deletion and intragenic pathogenic variants, could cause a rare type of SRS...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826800/causal-effects-and-metabolites-mediators-between-immune-cell-and-risk-of-breast-cancer-a-mendelian-randomization-study
#55
JOURNAL ARTICLE
Ruijie Ming, Huan Wu, Hong Liu, Fangbiao Zhan, Xingan Qiu, Ming Ji
Introduction: The incidence and mortality of female breast cancer remain high, and the immune microenvironment of breast cancer has undergone significant alterations. However, the impact of blood immune cell levels on the risk of breast cancer is not fully understood. Therefor this study aims to investigate the causal relationship between blood immune cell levels and the risk of breast cancer. Methods: A Mendelian randomization (MR) analysis was employed to assess the causal relationship between immune cells and the risk of breast cancer, as along with their potential mediating factors...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38826799/comparative-transcriptomics-revealed-neurodevelopmental-impairments-and-ferroptosis-induced-by-extremely-small-iron-oxide-nanoparticles
#56
JOURNAL ARTICLE
Zhaojie Lyu, Yao Kou, Yao Fu, Yuxuan Xie, Bo Yang, Hongjie Zhu, Jing Tian
Iron oxide nanoparticles are a type of nanomaterial composed of iron oxide (Fe3 O4 or Fe2 O3 ) and have a wide range of applications in magnetic resonance imaging. Compared to iron oxide nanoparticles, extremely small iron oxide nanoparticles (ESIONPs) (∼3 nm in diameter) can improve the imaging performance due to a smaller size. However, there are currently no reports on the potential toxic effects of ESIONPs on the human body. In this study, we applied ESIONPs to a zebrafish model and performed weighted gene co-expression network analysis (WGCNA) on differentially expressed genes (DEGs) in zebrafish embryos of 48 hpf, 72 hpf, 96 hpf, and 120 hpf using RNA-seq technology...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38818043/a-novel-homozygous-rsph4a-variant-in-a-family-with-primary-ciliary-dyskinesia-and-literature-review
#57
JOURNAL ARTICLE
Chenling Shen, Yilin Shen, Weiyi Huang, Andi Zhang, Tianyuan Zou, Dongye Guo, Hao Wang, Jichang Wu, Haixia Hu, Mingliang Xiang, Bin Ye
Introduction: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disease caused by abnormalities in motile cilia. In this case report, we first analyzed the clinical and genetic data of a proband who was suspected of having PCD on the basis of her clinical and radiological findings. Methods: Whole-exome sequencing was performed, and a variant in the RSPH4A gene was identified in the proband. Sanger sequencing was used for validation of RSPH4A variants in the proband, her sister, her daughter and her parents...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38818042/assessing-the-impact-of-sequencing-platforms-and-analytical-pipelines-on-whole-exome-sequencing
#58
JOURNAL ARTICLE
Yanping Sun, Xiaochao Zhao, Xue Fan, Miao Wang, Chaoyang Li, Yongfeng Liu, Ping Wu, Qin Yan, Lei Sun
No abstract text is available yet for this article.
2024: Frontiers in Genetics
https://read.qxmd.com/read/38818041/whole-exome-sequencing-identified-a-homozygous-novel-variant-in-dop1a-gene-in-the-pakistan-family-with-neurodevelopmental-disabilities-case-report-and-literature-review
#59
JOURNAL ARTICLE
Wei Zhang, Muhammad Tariq, Bhaskar Roy, Juan Shen, Ayaz Khan, Naveed Altaf Malik, Sijie He, Shahid Mahmood Baig, Xiaodong Fang, Jianguo Zhang
BACKGROUND: Hereditary neurodevelopmental disorders (NDDs) are prevalent in poorly prognostic pediatric diseases, but the pathogenesis of NDDs is still unclear. Irregular myelination could be one of the possible causes of NDDs. CASE PRESENTATION: Here, whole exome sequencing was carried out for a consanguineous Pakistani family with NDDs to identify disease-associated variants. The co-segregation of candidate variants in the family was validated using Sanger sequencing...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38818040/identifying-potential-drug-targets-for-varicose-veins-through-integration-of-gwas-and-eqtl-summary-data
#60
JOURNAL ARTICLE
Yu Cui, Mengting Hu, He Zhou, Jiarui Guo, Qijia Wang, Zaihua Xu, Liyun Chen, Wancong Zhang, Shijie Tang
BACKGROUND: Varicose veins (VV) are a common chronic venous disease that is influenced by multiple factors. It affects the quality of life of patients and imposes a huge economic burden on the healthcare system. This study aimed to use integrated analysis methods, including Mendelian randomization analysis, to identify potential pathogenic genes and drug targets for VV treatment. METHODS: This study conducted Summary-data-based Mendelian Randomization (SMR) analysis and colocalization analysis on data collected from genome-wide association studies and cis-expression quantitative trait loci databases...
2024: Frontiers in Genetics
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