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A guide to barley mutants Hereditas (IF 2.7) Pub Date : 2024-03-08 Mats Hansson, Helmy M. Youssef, Shakhira Zakhrabekova, David Stuart, Jan T. Svensson, Christoph Dockter, Nils Stein, Robbie Waugh, Udda Lundqvist, Jerome Franckowiak
Mutants have had a fundamental impact upon scientific and applied genetics. They have paved the way for the molecular and genomic era, and most of today’s crop plants are derived from breeding programs involving mutagenic treatments. Barley (Hordeum vulgare L.) is one of the most widely grown cereals in the world and has a long history as a crop plant. Barley breeding started more than 100 years ago
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Bioinformatic analysis and experimental validation of cuproptosis-related LncRNA as a novel biomarker for prognosis and immunotherapy of oral squamous cell carcinoma Hereditas (IF 2.7) Pub Date : 2024-02-27 Shuang Liang, Lanting Ji, Zhenyuan Yu, YaHsin Cheng, Ruifang Gao, Wenpeng Yan, Fang Zhang
The novel form of regulatory cell death, cuproptosis, is characterized by proteotoxicity, which ultimately leads to cell death. Its targeting has emerged as a promising therapeutic approach for oral squamous cell carcinoma (OSCC). Long noncoding RNAs (lncRNAs) participate in epigenetic regulation and have been linked to the progression, prognosis, and treatment of OSCC. Thus, this study aimed to identify
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A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family Hereditas (IF 2.7) Pub Date : 2024-02-20 Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron
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Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family Hereditas (IF 2.7) Pub Date : 2024-02-06 Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu
Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white. These conditions are caused by mutations in specific genes necessary for the production
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Integrative single-cell analysis: dissecting CD8 + memory cell roles in LUAD and COVID-19 via eQTLs and Mendelian Randomization Hereditas (IF 2.7) Pub Date : 2024-01-31 Jintao Wu, Xiaocheng Mao, Xiaohua Liu, Junying Mao, Xianxin Yang, Xiangwu zhou, Lu Tianzhu, Yulong Ji, Zhao Li, Huijuan Xu
Lung adenocarcinoma exhibits high incidence and mortality rates, presenting a significant health concern. Concurrently, the COVID-19 pandemic has emerged as a grave global public health challenge. Existing literature suggests that T cells, pivotal components of cellular immunity, are integral to both antiviral and antitumor responses. Yet, the nuanced alterations and consequent functions of T cells
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Comprehensive analysis revealed the immunoinflammatory targets of rheumatoid arthritis based on intestinal flora, miRNA, transcription factors, and RNA-binding proteins databases, GSEA and GSVA pathway observations, and immunoinfiltration typing Hereditas (IF 2.7) Pub Date : 2024-01-25 Yin Guan, Yue Zhang, Xiaoqian Zhao, Yue Wang
Rheumatoid arthritis (RA) is a chronic inflammatory arthritis. This study aimed to identify potential biomarkers and possible pathogenesis of RA using various bioinformatics analysis tools. The GMrepo database provided a visual representation of the analysis of intestinal flora. We selected the GSE55235 and GSE55457 datasets from the Gene Expression Omnibus database to identify differentially expressed
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Correction: Identification of five hub genes as monitoring biomarkers for breast cancer metastasis in silico Hereditas (IF 2.7) Pub Date : 2024-01-19 Yun Cai, Jie Mei, Zhuang Xiao, Bujie Xu, Xiaozheng Jiang, Yongjie Zhang, Yichao Zhu
Correction: Hereditas 156, 20 (2019). https://doi.org/10.1186/s41065-019-0096-6. Following publication of the original article [1], the author reported that Fig. 6B and 6C were repeated. The correct Figure is included here and the original article has been updated. Fig. 6 Diagnostic value of the five hub genes in identifying normal and breast cancer tissues. The ROC curve revealed that the mRNA levels
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A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype Hereditas (IF 2.7) Pub Date : 2024-01-18 Nuo Xu, Liping Zheng, Zhehao Dai, Jun Zhu, Peng Xie, Shun Yang, Fei Chen
Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs). We identified a novel heterozygous missense mutation, FGG c.1168G > T (NCBI NM_000509.6), and conducted expression studies and functional analyses to explore the influence on fibrinogen synthesis, secretion, and polymerization. Coagulation
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Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging Hereditas (IF 2.7) Pub Date : 2024-01-03 Yichao Wen, Haiyang Chen, Yu Wang, Yiqing Sun, Fangfang Dou, Xiling Du, Te Liu, Chuan Chen
Vascular aging is an important pathophysiological basis for the senescence of various organs and systems in the human body, and it is a common pathogenetic trigger for many chronic diseases in the elderly. The extracellular vesicles (EVs) from young and aged umbilical vein endothelial cells were isolated and identified by qPCR the differential expression levels of 47 mRNAs of genes closely related
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Network pharmacology to unveil the mechanism of suanzaoren decoction in the treatment of alzheimer’s with diabetes Hereditas (IF 2.7) Pub Date : 2024-01-03 Tao Chen, Yining Lei, Manqin Li, Xinran Liu, Lu Zhang, Fei Cai, Xiaoming Gong, Ruyi Zhang
Suanzaoren Decoction (SZRD), a well-known formula from traditional Chinese medicine, has been shown to have reasonable cognitive effects while relaxing and alleviating insomnia. Several studies have demonstrated significant therapeutic effects of SZRD on diabetes and Alzheimer’s disease (AD). However, the active ingredients and probable processes of SZRD in treating Alzheimer’s with diabetes are unknown
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Revisiting bicoid function: complete inactivation reveals an additional fundamental role in Drosophila egg geometry specification Hereditas (IF 2.7) Pub Date : 2024-01-02 Stefan Baumgartner
The bicoid (bcd) gene in Drosophila has served as a paradigm for a morphogen in textbooks for decades. Discovered in 1986 as a mutation affecting anterior development in the embryo, its expression pattern as a protein gradient later confirmed the prediction from transplantation experiments. These experiments suggested that the protein fulfills the criteria of a true morphogen, with the existence of
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Mechanisms of Actinidia chinensis Planch in treating colon cancer based on the integration of network pharmacology, molecular docking, and experimental verification Hereditas (IF 2.7) Pub Date : 2023-12-15 Jin-Fang Chen, Shi-Wei Wu, Zi-Man Shi, Yan-Jie Qu, Min-Rui Ding, Bing Hu
As an anticancer Chinese herbal medicine, the effective components and mechanism of Actinidia chinensis Planch (ACP, Tengligen) in the treatment of colon cancer are still unclear. In the present study, the integration of network pharmacology, molecular docking, and cell experiments was employed to study the effective mechanism of ACP against colon cancer. The Venn diagram and STRING database were used
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A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker Hereditas (IF 2.7) Pub Date : 2023-12-11 Xin-ying Liu, Qing Tan, Lin-xiao Li
Dyskeratosis congenita 1 (DKC1), a critical component of telomerase complex, is highly expressed in a variety of human cancers. However, the association of DKC1 with cancer occurrence and development stages is not clear, making a pan-cancer analysis crucial. We conducted a study using various bioinformatic databases such as TIMER, GEPIA, UALCAN, and KM plotter Analysis to examine the different expressions
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A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease Hereditas (IF 2.7) Pub Date : 2023-11-18 Lv Liu, Hua Luo, Yue Sheng, Xi Kang, Hong Peng, Hong Luo, Liang-Liang Fan
Interstitial lung diseases (ILDs), or diffuse pulmonary lung disease, are a subset of lung diseases that primarily affect lung alveoli and the space around interstitial tissue and bronchioles. It clinically manifests as progressive dyspnea, and patients often exhibit a varied decrease in pulmonary diffusion function. Recently, variants in telomere biology-related genes have been identified as genetic
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Insulin-like growth factor binding protein 2: a core biomarker of left ventricular dysfunction in dilated cardiomyopathy Hereditas (IF 2.7) Pub Date : 2023-10-31 Wei Yu, Hongli Gao, Tianyang Hu, Xingling Tan, Yiheng Liu, Hongli Liu, Siming He, Zijun Chen, Sheng Guo, Jing Huang
RNA modifications, especially N6-methyladenosine, N1-methyladenosine and 5–methylcytosine, play an important role in the progression of cardiovascular disease. However, its regulatory function in dilated cardiomyopathy (DCM) remains to be undefined. In the study, key RNA modification regulators (RMRs) were screened by three machine learning models. Subsequently, a risk prediction model for DCM was
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Correction to: Performance comparison of four types of target enrichment baits for exome DNA sequencing Hereditas (IF 2.7) Pub Date : 2023-09-06 Juan Zhou, Mancang Zhang, Xiaoqi Li, Zhuo Wang, Dun Pan, Yongyong Shi
Correction: Hereditas (2021) 158:10 https://doi.org/10.1186/s41065-021-00171-3 Following the publication of the original article [1], the competing interest section will be updated to: Zhou J, Zhang M, Li X, et al. Performance comparison of four types of target enrichment baits for exome DNA sequencing. Hereditas. 2021;158:10. https://doi.org/10.1186/s41065-021-00171-3. Article CAS PubMed PubMed Central
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Construction and validation of a cuproptosis-related diagnostic gene signature for atrial fibrillation based on ensemble learning Hereditas (IF 2.7) Pub Date : 2023-08-24 Yixin Wang, Qiaozhu Wang, Peng Liu, Lingyan Jin, Xinghua Qin, Qiangsun Zheng
Atrial fibrillation (AF) is the most common type of cardiac arrhythmia. Nonetheless, the accurate diagnosis of this condition continues to pose a challenge when relying on conventional diagnostic techniques. Cell death is a key factor in the pathogenesis of AF. Existing investigations suggest that cuproptosis may also contribute to AF. This investigation aimed to identify a novel diagnostic gene signature
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Elevated HMGB1 promotes the malignant progression and contributes to cisplatin resistance of non-small cell lung cancer Hereditas (IF 2.7) Pub Date : 2023-07-31 Ying Ma, Qin Feng, Bateer Han, Rong Yu, Zhiyong Jin
HMGB1 (high mobility group box B-1) exhibits crucial role in tumor genesis and development, including lung cancer. Whereas, more HMGB1-related details in non-small cell lung cancer (NSCLC) are still largely unclear. The HMGB1 and inflammatory factors in malignant (MPE) and non-malignant pleural effusion (BPE) were determined by ELISA. Additionally, qRT-PCR, western blot, or immunohistochemistry were
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Significance of methylation-related genes in diagnosis and subtype classification of renal interstitial fibrosis Hereditas (IF 2.7) Pub Date : 2023-07-27 Hanchao Zhang, Yue Yang, Zhengdao Liu, Hong Xu, Han Zhu, Peirui Wang, Guobiao Liang
RNA methylation modifications, such as N1-methyladenosine/N6-methyladenosine /N5-methylcytosine (m1A/m6A/m5C), are the most common RNA modifications and are crucial for a number of biological processes. Nonetheless, the role of RNA methylation modifications of m1A/m6A/m5C in the pathogenesis of renal interstitial fibrosis (RIF) remains incompletely understood. Firstly, we downloaded 2 expression datasets
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A cuproptosis-related lncRNA signature for predicting prognosis and immunotherapy response of lung adenocarcinoma Hereditas (IF 2.7) Pub Date : 2023-07-24 Sheng Yu, Lingxue Tang, Qianqian Zhang, Wen Li, Senbang Yao, Yinlian Cai, Huaidong Cheng
Copper-induced cell death (cuproptosis) is a new regulatory cell death mechanism. Long noncoding RNAs (lncRNAs) are related to tumor immunity and metastasis. However, the correlation of cuproptosis-related lncRNAs with the immunotherapy response and prognosis of lung adenocarcinoma (LUAD) patients is not clear. We obtained the clinical characteristics and transcriptome data from TCGA-LUAD dataset (containing
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An 8-gene predicting survival model of hepatocellular carcinoma (HCC) related to pyroptosis and cuproptosis Hereditas (IF 2.7) Pub Date : 2023-07-18 Hongjin Wang, Nian Wang, Ze Tang, Qiuyu Liu, Shiyu Nie, Wu Tao
The study aimed to establish a prognostic survival model with 8 pyroptosis-and-cuproptosis-related genes to examine the prognostic effect in patients of hepatocellular carcinoma (HCC). We downloaded gene expression data and clinical information of HCC patients from The Cancer Genome Atlas (TCGA), International Cancer Genome Consortium (ICGC) and Gene Expression Omnibus (GEO). The clustering analysis
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Enhancer-driven transcription of MCM8 by E2F4 promotes ATR pathway activation and glioma stem cell characteristics Hereditas (IF 2.7) Pub Date : 2023-06-22 Yu-meng Sun, Yi-meng Zhang, Hai-liang Shi, Song Yang, Yin-long Zhao, Hong-jiang Liu, Chen Li, Hong-lei Liu, Ji-peng Yang, Jian Song, Guo-zhu Sun, Jian-kai Yang
Glioma stem cells (GSCs) are responsible for glioma recurrence and drug resistance, yet the mechanisms underlying their maintenance remains unclear. This study aimed to identify enhancer-controlled genes involved in GSCs maintenance and elucidate the mechanisms underlying their regulation. We analyzed RNA-seq data and H3K27ac ChIP-seq data from GSE119776 to identify differentially expressed genes and
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Mutations in the acetolactate synthase (ALS) enzyme affect shattercane (Sorghum bicolor) response to ALS-inhibiting herbicides Hereditas (IF 2.7) Pub Date : 2023-06-21 Ismail M. Dweikat, Malleswari Gelli, Mark Bernards, Alex Martin, Amit Jhala
Shattercane [Sorghum bicolor (L.) Moench ssp. Arundinaceum (Desv.)] is a competitive weed in North America's corn, soybean, sorghum, and other agronomic crops. Control of shattercane with POST herbicides in corn became possible with the introduction of acetolactate synthase (ALS)-inhibiting herbicides in the 1980s, and their extensive use resulted in the evolution of ALS-inhibitors resistant shattercane
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NPM3 as a novel oncogenic factor and poor prognostic marker contributes to cell proliferation and migration in lung adenocarcinoma Hereditas (IF 2.7) Pub Date : 2023-05-31 Shan Wei, Jing Xing, Kaining Lu, Kai Wang, Wanjun Yu
Lung cancer is the leading cause of cancer-related deaths worldwide, and despite recent advances in targeted therapies and immunotherapies, the clinical benefit remains limited. Therefore, there is an urgent need to further investigate the molecular mechanisms underlying lung cancer. The aim of this study was to investigate the expression and function of NPM3 in the tumor microenvironment of lung adenocarcinoma
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LncRNA WAC-AS1 expression in human tumors correlates with immune infiltration and affects prognosis Hereditas (IF 2.7) Pub Date : 2023-05-30 Yanyang Wang, Haiyan Gong, Yue Cao
WAC-antisense RNA1 (WAC-AS1) is a newly identified long non-coding RNA (lncRNA) implicated in the prognosis and development of a few types of tumors. However, the correlations of WAC-AS1 with immune infiltration and patient prognosis in pan-cancer remain unclear. In the present study, we aimed to investigate the prognostic value and immunological functions of WAC-AS1 across 33 different types of cancers
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Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach Hereditas (IF 2.7) Pub Date : 2023-05-29 Fereshteh Maryami, Elham Rismani, Elham Davoudi-Dehaghani, Nasrin Khalesi, Fatemeh Zafarghandi Motlagh, Alireza Kordafshari, Saeed Talebi, Hamzeh Rahimi, Sirous Zeinali
Methylmalonic acidemia (MMA) is a rare metabolic disorder resulting from functional defects in methylmalonyl-CoA mutase. Mutations in the MMAB gene are responsible for the cblB type of vitamin B12-responsive MMA. This study used Whole-exome sequencing (WES), Sanger sequencing, linkage analysis, and in-silico evaluation of the variants’ effect on protein structure and function to confirm their pathogenicity
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Correction: Genomics in animal breeding from the perspectives of matrices and molecules Hereditas (IF 2.7) Pub Date : 2023-05-18 Martin Johnsson
Correction: Hereditas 160, 20 (2023). https://doi.org/10.1186/s41065-023-00285-w. Following publication of the original article [1], the author reported that the revised version with track changes of the manuscript was captured as an additional file. This should be removed. The original article has been corrected. Johnsson M. Genomics in animal breeding from the perspectives of matrices and molecules
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EZH2 regulates pancreatic cancer cells through E2F1, GLI1, CDK3, and Mcm4 Hereditas (IF 2.7) Pub Date : 2023-05-17 Hongfeng Li, Hailong Wang, Yunlong Cui, Wenhua Jiang, Hongjie Zhan, Lixia Feng, Mingyou Gao, Kuo Zhao, Limeng Zhang, Xiaojing Xie, Ning Zhao, Ying Li, Pengfei Liu
Pancreatic cancer (PC) is one of the most common malignant tumors in digestive tract. To explore the role of epigenetic factor EZH2 in the malignant proliferation of PC, so as to provide effective medical help in PC. Sixty paraffin sections of PC were collected and the expression of EZH2 in PC tissues was detected by immunohistochemical assay. Three normal pancreas tissue samples were used as controls
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Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome Hereditas (IF 2.7) Pub Date : 2023-05-12 Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also
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A potential immunotherapeutic and prognostic biomarker for multiple tumors including glioma: SHOX2 Hereditas (IF 2.7) Pub Date : 2023-05-11 Xiaocong Wu, Hui Chen, Chao You, Zongjun Peng
Short stature homeobox 2 (SHOX2) is significant gene in the development and progression of multiple types of tumors. Nonetheless, the biological role of SHOX2 within pan-cancer datasets has not been investigated. Thus, comprehensive bioinformatics analyses of pan-cancer datasets were conducted to explore how SHOX2 regulates tumorigenesis. A variety of tumor datasets and online analytical tools, including
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Genomics in animal breeding from the perspectives of matrices and molecules Hereditas (IF 2.7) Pub Date : 2023-05-06 Martin Johnsson
This paper describes genomics from two perspectives that are in use in animal breeding and genetics: a statistical perspective concentrating on models for estimating breeding values, and a sequence perspective concentrating on the function of DNA molecules. This paper reviews the development of genomics in animal breeding and speculates on its future from these two perspectives. From the statistical
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Stable populations and Hardy-Weinberg equilibrium Hereditas (IF 2.7) Pub Date : 2023-05-05 Alan E. Stark
The conditions on the mating matrix associated with a stable equilibrium are specified for an autosomal locus with five alleles. This points the way to the maintenance of Hardy-Weinberg proportions with non-random mating. The myth of random mating is exposed.
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Deciphering the potential ability of RG108 in cisplatin-induced HEI-OC1 ototoxicity: a research based on RNA-seq and molecular biology experiment Hereditas (IF 2.7) Pub Date : 2023-04-24 Dongdong Zhang, Yixin Sun, Min Lei, Yue Wang, Chengfu Cai
Drug-induced hearing loss (DIHL) is very common, and seriously affects people's happiness in life. RG108 is a small molecule inhibitor. RG108 is protective against DIHL. Our purpose is to probe the incidence of RG108 on cisplatin-induced ototoxicity. In our research, the ototoxicity of RG108 was investigated in HEI-OC1. We observed under the microscope whether RG108 had an effect on cisplatin-induced
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Identification and validation of autophagy-related genes in Kawasaki disease Hereditas (IF 2.7) Pub Date : 2023-04-21 Hao Zhu, Biao Xu, Cunshu Hu, Aimin Li, Qing Liao
Kawasaki disease (KD) is a systemic vasculitis of unknown etiology affecting mainly children. Studies have shown that the pathogenesis of KD may be related to autophagy. Using bioinformatics analysis, we assessed the significance of autophagy-related genes (ARGs) in KD. Common ARGs were identified from the GeneCards Database, the Molecular Signatures Database (MSigDB), and the Gene Expression Omnibus
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Mendel’s terminology and notation reveal his understanding of genetics Hereditas (IF 2.7) Pub Date : 2023-04-17 T. H. Noel Ellis, Peter J. van Dijk
We describe both the terminology and use of symbols introduced by Mendel in his 1866 paper and discuss some misconceptions concerning their interpretation.
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γ-tocotrienol regulates gastric cancer by targeting notch signaling pathway Hereditas (IF 2.7) Pub Date : 2023-04-13 Ling Xie, Juan Yan
Gastric cancer is a common cause of death from cancer and an important global health care issue. Consequently, there is an urgent need to find new drugs and therapeutic targets for the treatment of gastric cancer. Recent studies have shown that tocotrienols (T3) have significant anticancer ability in cancer cell lines. Our previous study found that γ-tocotrienol (γ-T3) induced apoptosis in gastric
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Comprehensive evaluations of individual discrimination, kinship analysis, genetic relationship exploration and biogeographic origin prediction in Chinese Dongxiang group by a 60-plex DIP panel Hereditas (IF 2.7) Pub Date : 2023-03-29 Man Chen, Wei Cui, Xiaole Bai, Yating Fang, Hongbin Yao, Xingru Zhang, Fanzhang Lei, Bofeng Zhu
Dongxiang group, as an important minority, resides in Gansu province which is located at the northwest China, forensic detection system with more loci needed to be studied to improve the application efficiency of forensic case investigation in this group. A 60-plex system including 57 autosomal deletion/insertion polymorphisms (A-DIPs), 2 Y chromosome DIPs (Y-DIPs) and the sex determination locus (Amelogenin)
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CCNE1 is a predictive and immunotherapeutic indicator in various cancers including UCEC: a pan-cancer analysis Hereditas (IF 2.7) Pub Date : 2023-03-24 Xingyu Zheng, Lingli Chen, Wenlu Liu, Shuangshuang Zhao, Ye Yan, Jianzhen Zhao, Wenyan Tian, Yingmei Wang
CCNE1 plays an important oncogenic role in several tumors, especially high-stage serous ovarian cancer and endometrial cancer. Nevertheless, the fundamental function of CCNE1 has not been explored in multiple cancers. Therefore, bioinformatics analyses of pan-cancer datasets were carried out to explore how CCNE1 regulates tumorigenesis. A variety of online tools and cancer databases, including GEPIA2
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Circular RNA circHMCU promotes breast tumorigenesis through miR-4458/PGK1 regulatory cascade Hereditas (IF 2.7) Pub Date : 2023-03-23 Shubian Qiu, Lele Zou, Ruimin Qiu, Xin Wang
Circular RNAs (circRNAs) are abnormally expressed in breast cancer (BC). However, the biological function and mechanism of circHMCU still need to be further explored. The expression levels of circHMCU, miR-4458 and phosphoglycerate kinase 1 (PGK1) were measured by quantitative real-time polymerase chain reaction (qRT-PCR) or western blot. The glucose uptake, lactate production and ATP level were assayed
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SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency Hereditas (IF 2.7) Pub Date : 2023-03-13 Ruisong Wang, Ziyi Qin, Long Huang, Huiling Luo, Han Peng, Xinyu Zhou, Zhixiang Zhao, Mingyao Liu, Pinhong Yang, Tieliu Shi
Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann–Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM). Except for liver and spleen enlargement and lung disease, two subtypes (Type A and B) of NDP have different onset times, survival times, ASM activities, and neurological abnormalities. To comprehensively
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Development and validation of an RBP gene signature for prognosis prediction in colorectal cancer based on WGCNA Hereditas (IF 2.7) Pub Date : 2023-03-10 Lu Cao, Lili Duan, Rui Zhang, Wanli Yang, Ning Yang, Wenzhe Huang, Xuemin Chen, Nan Wang, Liaoran Niu, Wei Zhou, Junfeng Chen, Yiding Li, Yujie Zhang, Jinqiang Liu, Daiming Fan, Hong Liu
RNA binding proteins (RBPs) have been implicated in oncogenesis and progression in various cancers. However, the potential value of RBPs as prognostic indicators and therapeutic targets in colorectal cancer (CRC) requires further investigation. Four thousand eighty two RBPs were collected from literature. The weighted gene co-expression network analysis (WGCNA) was performed to identify prognosis-related
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Identification of the shared genes and immune signatures between systemic lupus erythematosus and idiopathic pulmonary fibrosis Hereditas (IF 2.7) Pub Date : 2023-03-04 Sheng Liao, Youzhou Tang, Ying Zhang, Qingtai Cao, Linyong Xu, Quan Zhuang
Systemic lupus erythematosus (SLE) is an autoimmune disorder which could lead to inflammation and fibrosis in various organs. Pulmonary fibrosis is a severe complication in patients with SLE. Nonetheless, SLE-derived pulmonary fibrosis has unknown pathogenesis. Of pulmonary fibrosis, Idiopathic pulmonary fibrosis (IPF) is a typicality and deadly form. Aiming to investigate the gene signatures and possible
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Identification of autophagy-related genes in neuropathic pain through bioinformatic analysis Hereditas (IF 2.7) Pub Date : 2023-03-01 Sheng Tian, Lanxiang Wu, Heqing Zheng, Xianhui Zhong, Xinping Yu, Wei Wu
Neuropathic pain (NP) is one of the most common types of chronic pain and significantly compromises the quality of life. Autophagy is an intracellular catabolic process that is required to maintain cellular homeostasis in response to various stresses. The role of autophagy-related genes in the diagnosis and treatment of neuropathic pain remains unclear. We identified autophagy-related differentially
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Exploration of the underlying comorbidity mechanism in psoriasis and periodontitis: a bioinformatics analysis Hereditas (IF 2.7) Pub Date : 2023-02-10 Hao Lei, Xin Chen, Ziyang Wang, Zixuan Xing, Wenqian Du, Ruimin Bai, Ke He, Wen Zhang, Yan Wang, Yan Zheng
Increasing evidence indicates that psoriasis (PSO) and periodontitis (PD) are likely to occur together, however, the underlying mechanism remains unclear. The expression profiles of PSO (lesion vs non-lesion, GSE30999, GSE14905) and PD (affected vs unaffected gingival tissue, GSE16134, GSE10334) were downloaded from the GEO database. First, we investigated the common differentially expressed genes
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m6A-related lncRNA-based immune infiltration characteristic analysis and prognostic model for colonic adenocarcinoma Hereditas (IF 2.7) Pub Date : 2023-02-09 Hao-lun Wang, Zhuo-miao Ye, Zi-yun He, Lu Huang, Zhi-hui Liu
Colonic adenocarcinoma (COAD) is a common gastrointestinal tract tumor, and its occurrence and progression are typically associated with genomic instability, tumor-suppressor gene and oncogene mutations, and tumor mutational load. N6-methyladenosine (m6A) modification of RNAs and long non-coding RNA (lncRNA) expression are important in tumorigenesis and progression. However, the regulatory roles of
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Understanding the contemporary high obesity rate from an evolutionary genetic perspective Hereditas (IF 2.7) Pub Date : 2023-02-07 Tong Wu, Shuhua Xu
The topic of obesity is gaining increasing popularity globally. From an evolutionary genetic perspective, it is believed that the main cause of the high obesity rate is the mismatch between environment and genes after people have shifted toward a modern high-calorie diet. However, it has been debated for over 60 years about how obesity-related genes become prevalent all over the world. Here, we review
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Development of a risk model based on autophagy-related genes to predict survival and immunotherapy response in ovarian cancer Hereditas (IF 2.7) Pub Date : 2023-02-01 Yuwei Chen, Zhibo Deng, Yang Sun
Autophagy is a highly conserved cellular proteolytic process that can interact with innate immune signaling pathways to affect the growth of tumor cells. However, the regulatory mechanism of autophagy in the tumor microenvironment, drug sensitivity, and immunotherapy is still unclear. Based on the prognostic autophagy-related genes, we used the unsupervised clustering method to divide 866 ovarian cancer
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Forkhead box P3 gene polymorphisms predispose to type 2 diabetes and diabetic nephropathy in the Han Chinese populations: a genetic-association and gender-based evaluation study Hereditas (IF 2.7) Pub Date : 2023-01-31 Xiaorong Wang, Zejing Liu, Shangdi Zhang, Yinfeng Yang, Xue Wu, Xinyue Liu
Functional mutations or polymorphisms affecting forkhead box P3 (FOXP3) can lead to their abnormal FOXP3 gene expression and/or defective Treg cells generation, thus resulting in autoimmune disease and inflammatory disorders. FOXP3 also plays a key role in Type 2 diabetes mellitus (T2DM) and its complications, because the disease usually involves chronic low-grade inflammatory disorders and is associated
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Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer Hereditas (IF 2.7) Pub Date : 2023-01-25 Yu Xiao, Yi Huang, Jianping Jiang, Yan Chen, Changyuan Wei
Breast cancer is a heterogeneous group of diseases. The polarization of CD4+ T helper (Th) lymphocytes (mainly Th1 and Th2) may differ in breast cancers with different outcomes, but this has not been fully validated. This study is a bioinformatic analysis, in which differentially expressed genes (DEGs) were identified in patients with low and high Th1/Th2 ratios. And then, DEG functions, hub genes
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Upregulation of CENPM is associated with poor clinical outcome and suppression of immune profile in clear cell renal cell carcinoma Hereditas (IF 2.7) Pub Date : 2023-01-13 Zhang, Zhi-Cheng, Liu, Yi-Fu, Xi, Ping, Nie, Ye-Chen, Sun, Ting, Gong, Bin-Bin
The response of advanced clear cell renal cell carcinoma (ccRCC) to immunotherapy is still not durable, suggesting that the immune landscape of ccRCC still needs to be refined, especially as some molecules that have synergistic effects with immune checkpoint genes need to be explored. The expression levels of CENPM and its relationship with clinicopathological features were explored using the ccRCC
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Stages of preadipocyte differentiation: biomarkers and pathways for extracellular structural remodeling Hereditas (IF 2.7) Pub Date : 2022-12-27 Hu, Zhihan, Liu, Yi, Yao, Zongjiang, Chen, Liming, Wang, Gang, Liu, Xiaohui, Tian, Yafei, Cao, Guangtong
This study utilized bioinformatics to analyze the underlying biological mechanisms involved in adipogenic differentiation, synthesis of the extracellular matrix (ECM), and angiogenesis during preadipocyte differentiation in human Simpson–Golabi–Behmel syndrome at different time points and identify targets that can potentially improve fat graft survival. We analyzed two expression profiles from the
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Variations in the TAS2R38 gene among college students in Hubei Hereditas (IF 2.7) Pub Date : 2022-12-19 Wang, Xiaojun, Wang, Lin, Xia, Mengwei, Teng, Feng, Chen, Xuejiao, Huang, Rufeng, Zhou, Jiahao, Xiao, Juan, Zhai, Lihong
The bitter taste receptor gene TAS2R38 is a member of the human TAS2R gene family. Polymorphisms in TAS2R38 affect the ability to taste the bitterness of phenylthiourea (PTC) compounds, thus affecting an individual’s food preference and health status. We investigated polymorphisms in the TAS2R38 gene and the sensitivity to PTC bitterness among healthy Chinese college students in Hubei province. The
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Identification of GINS1 as a therapeutic target in the cancer patients infected with COVID-19: a bioinformatics and system biology approach Hereditas (IF 2.7) Pub Date : 2022-12-01 Hu, Changpeng, Dai, Yue, Zhou, Huyue, Zhang, Jing, Xie, Dandan, Xu, Rufu, Yang, Mengmeng, Zhang, Rong
Coronavirus disease 2019 (COVID-19) caused a series of biological changes in cancer patients which have rendered the original treatment ineffective and increased the difficulty of clinical treatment. However, the clinical treatment for cancer patients infected with COVID-19 is currently unavailable. Since bioinformatics is an effective method to understand undiscovered biological functions, pharmacological
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Mechanisms of Cynarine for treatment of non-alcoholic fatty liver disease based on the integration of network pharmacology, molecular docking and cell experiment Hereditas (IF 2.7) Pub Date : 2022-12-01 Sun, Chun-Yong, Yang, Le-Le, Zhao, Pan, Yan, Pei-Zheng, Li, Jia, Zhao, Dong-Sheng
Nonalcoholic Fatty Liver Disease (NAFLD) is a chronic Liver Disease prevalent all over the world. It has become more and more common in Japan, China and most western developed countries. The global prevalence rate is 25.24%, and the trend is increasing year by year. Related studies have shown that Cynarine has certain liver protection, lipid lowering and immune intervention effects. So, this study
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Comprehensive analysis to identify pseudogenes/lncRNAs-hsa-miR-200b-3p-COL5A2 network as a prognostic biomarker in gastric cancer Hereditas (IF 2.7) Pub Date : 2022-11-29 Li, Peiyuan, Ji, Wenbin, Wei, Zhiwang, Wang, Xiulan, Qiao, Gangjie, Gao, Chao, Wang, Yifan, Qi, Feng
Gastric cancer is one of the most common and deadly types of cancer. The molecular mechanism of gastric cancer progression remains unclear. Four hub genes were identified through GEO and TCGA database screening and analysis. Prognostic analysis revealed that COL5A2 was the most likely to affect the prognosis of gastric cancer among the four hub genes. The relationships between COL5A2 and clinical variables
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Screening of ulcerative colitis biomarkers and potential pathways based on weighted gene co-expression network, machine learning and ceRNA hypothesis Hereditas (IF 2.7) Pub Date : 2022-11-23 Li, Ying, Tang, Mengyao, Zhang, Feng Jun, Huang, Yihan, Zhang, Jing, Li, Junqi, Wang, Yunpeng, Yang, Jinguang, Zhu, Shu
Ulcerative colitis (UC) refers to an intractable intestinal inflammatory disease. Its increasing incidence rate imposes a huge burden on patients and society. The UC etiology has not been determined, so screening potential biomarkers is critical to preventing disease progression and selecting optimal therapeutic strategies more effectively. The microarray datasets of intestinal mucosal biopsy of UC
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Profiling ATM regulated genes in Drosophila at physiological condition and after ionizing radiation Hereditas (IF 2.7) Pub Date : 2022-10-21 Liu, Jun, Jin, Tianyu, Ran, Lanxi, Zhao, Ze, Zhu, Rui, Xie, Gangcai, Bi, Xiaolin
ATM (ataxia-telangiectasia mutated) protein kinase is highly conserved in metazoan, and plays a critical role at DNA damage response, oxidative stress, metabolic stress, immunity, RNA biogenesis etc. Systemic profiling of ATM regulated genes, including protein-coding genes, miRNAs, and long non-coding RNAs, will greatly improve our understanding of ATM functions and its regulation. 1) differentially
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A novel chromatin regulator-related immune checkpoint related gene prognostic signature and potential candidate drugs for endometrial cancer patients Hereditas (IF 2.7) Pub Date : 2022-10-18 Liu, Zesi, Yang, Hongxia, Chen, Ziyu, Jing, Chunli
Endometrial cancer (EC) is the most common gynecologic malignancy in developed countries and its prevalence is increasing. As an emerging therapy with a promising efficacy, immunotherapy has been extensively applied in the treatment of solid tumors. In addition, chromatin regulators (CRs), as essential upstream regulators of epigenetics, play a significant role in tumorigenesis and cancer development
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Integrative analyses of genes related to liver ischemia reperfusion injury Hereditas (IF 2.7) Pub Date : 2022-10-18 Wang, Hang-Pin, Chen, Chu-Hong, Wei, Ben-Kai, Miao, Ying-Lei, Huang, Han-Fei, Zeng, Zhong
Liver ischemia reperfusion injury (LIRI) is not only a common injury during liver transplantation and major hepatic surgery, but also one of the primary factors that affect the outcome of postoperative diseases. However, there are still no reliable ways to tackle the problem. Our study aimed to find some characteristic genes associated with immune infiltration that affect LIRI, which can provide some
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Bioinformatics analysis of diagnostic biomarkers for Alzheimer's disease in peripheral blood based on sex differences and support vector machine algorithm Hereditas (IF 2.7) Pub Date : 2022-10-04 Ji, Wencan, An, Ke, Wang, Canjun, Wang, Shaohua
The prevalence of Alzheimer's disease (AD) varies based on gender. Due to the lack of early stage biomarkers, most of them are diagnosed at the terminal stage. This study aimed to explore sex-specific signaling pathways and identify diagnostic biomarkers of AD. Microarray dataset for blood was obtained from the Gene Expression Omnibus (GEO) database of GSE63060 to conduct differentially expressed genes