Articles

Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing

WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki–Schaffer syndrome is a ...

Authors: Yan Meng, Jun Yang, Chan Tian and Jie Qiao

Relationship between circulating miR-132 and non-alcoholic fatty liver disease in a Chinese population

Non-invasive diagnostic markers are of great importance for early screening nonalcoholic fatty liver disease (NAFLD). MicroRNAs (miRNAs) play significant roles in many metabolic disease, including NAFLD. There...

Authors: Yicen Zong, Jing Yan, Li Jin, Bo Xu, Zhen He, Rong Zhang, Cheng Hu and Weiping Jia

Giant congenital melanocytic nevus of the scalp: from clinical-histological to molecular diagnosis

Congenital melanocytic nevus (CMN) is a benign proliferative skin disease in the epidermis and dermis. Large to giant CMNs are estimated to be associated with an increased lifetime risk of malignancy. It is ne...

Authors: Yi Sun, Yun Zou, Lizhen Wang, Hao Gu, Qingqing Cen, Hui Chen, Xiaoxi Lin and Ren Cai

Transcriptome analysis on responses of orchardgrass (Dactylis glomerata L.) leaves to a short term flooding

Orchardgrass (Dactylis glomerata L.) is a popular cool-season perennial grass with a high production value, and orchardgrass seed is the fourth top-selling forage grass seed in the world. However, its yield and q...

Authors: Dandan Qiao, Yajie Zhang, Xuemei Xiong, Mingyang Li, Kai Cai, Hui Luo and Bing Zeng

Genome-wide variations analysis of sorghum cultivar Hongyingzi for brewing Moutai liquor

Hongyingzi is a sorghum (Sorghum bicolor L. Moench) cultivar for brewing Moutai liquor. For an overall understanding of the whole genome of Hongyingzi, we performed whole-genome resequencing technology to reveal ...

Authors: Lingbo Zhou, Can Wang, Xu Gao, Yanqing Ding, Bin Cheng, Guobing Zhang, Ning Cao, Yan Xu, Mingbo Shao and Liyi Zhang

Suppression of miR-330-3p alleviates DSS-induced ulcerative colitis and apoptosis by upregulating the endoplasmic reticulum stress components XBP1

This study aimed to explore the biological activities of miR-330-3p in dextan sulphate sodium (DSS)-induced ulcerative colitis and apoptosis and the direct target of miR-330-3p in this process. HT-29 cells and...

Authors: Qifeng Chen, Xiaoming Fang, Ning Yao, Fang Wu, Biao Xu and Zhengguang Chen

ggroups: an R package for pedigree and genetic groups data

R is a multi-platform statistical software and an object oriented programming language. The package archive network for R provides CRAN repository that features over 15,000 free open source packages, at the ti...

Authors: Mohammad Ali Nilforooshan and Luis Antonio Saavedra-Jiménez

Association between methylenetetrahydrofolate reductase gene rs1801131 A/C polymorphism and urinary tumors’ susceptibility

The methylenetetrahydrofolate reductase (MTHFR) rs1801131 A/C variant results in a decrease in MTHFR enzymatic activity, which may play an important role in folate metabolism and is also an important source of...

Authors: Shuaili Xu and Li Zuo

microRNA-9 might be a novel protective factor for osteoarthritis patients

The study aimed to identify the targeting genes and miRNAs using the microarray expression profile dataset for Osteoarthritis (OA) patients. Differentially expressed genes (DEGs) between OA and control samples...

Authors: Lei Jiang, Xu Sun and Hongyang Kong

A fructan: the fructan 1-fructosyl-transferase gene from Helianthus tuberosus increased the PEG-simulated drought stress tolerance of tobacco

Jerusalem artichoke (Helianthus tuberosus) is a fructan-accumulating plant, and an industrial source of raw material for fructan production, but the crucial enzymes involved in fructan biosynthesis remain poorly ...

Authors: Xuemei Sun, Yuan Zong, Shipeng Yang, Lihui Wang, Jieming Gao, Ying Wang, Baolong Liu and Huaigang Zhang

Investigation of the gene co-expression network and hub genes associated with acute mountain sickness

Acute mountain sickness has become a heavily researched topic in recent years. However, the genetic mechanism and effects have not been elucidated. Our goal is to construct a gene co-expression network to iden...

Authors: Yue Chang, Jiange He, Jiqiang Tang, Kai Chen, Zhenguo Wang, Qun Xia and Hai Li

No association between interleukin-18 levels and risk of cardiovascular disease: A Mendelian randomization study

In this study, Mendelian randomization method was used to determine whether there was a causal association between inflammatory cytokine IL-18 and cardiovascular disease risk.

Authors: Siyu Fan, Pan He, Jieqiong Guan, Wenjing Song, Hong Zhi and Lina Wang

No association between three polymorphisms (rs1800629, rs361525 and rs1799724) in the tumor necrosis factor-α gene and susceptibility to prostate cancer: a comprehensive meta-analysis

Inflammation is one of the factors associated with prostate cancer. The cytokine tumor necrosis factor-alpha (TNF-α) plays an important role in inflammation. Several studies have focused on the association bet...

Authors: Lei Yin, Chuang Yue, Hongwei Jing, Hongyuan Yu, Li Zuo and Tao Liu

Characterization and functional analysis of SIAH1 during skin and hair follicle development in the angora rabbit (Oryctolagus cuniculus)

Seven in absentia homolog 1 (SIAH1) is an E3 ubiquitin ligase containing a RING-finger domain and a key regulator of normal development. Skin and hair follicle development is a complex and special process of morp...

Authors: Tong Zhou, Yang Chen, Bohao Zhao, Shuaishuai Hu, Jiali Li, Ming Liu, Shuang Liang, Zhiyuan Bao and Xinsheng Wu

Comparative transcriptome analysis reveals gene expression differences between two peach cultivars under saline-alkaline stress

Saline-alkaline stress is a major abiotic stress that is harmful to plant growth worldwide. Two peach cultivars (GF677 and Maotao) display distinct phenotypes under saline-alkaline stress. The molecular mechan...

Authors: Shuxia Sun, Haiyan Song, Jing Li, Dong Chen, Meiyan Tu, Guoliang Jiang, Guoqing Yu and Zhiqin Zhou

STRsearch: a new pipeline for targeted profiling of short tandem repeats in massively parallel sequencing data

Short tandem repeats (STRs) are important polymorphism makers for human identification and kinship analyses in forensic science. With the continuous development of massively parallel sequencing (MPS), more lab...

Authors: Dong Wang, Ruiyang Tao, Zhiqiang Li, Dun Pan, Zhuo Wang, Chengtao Li and Yongyong Shi

Evaluation of heritability of β-eudesmol/hinesol content ratio in Atractylodes lancea De Candolle

Atractylodes lancea De Candolle is a medicinal plant distributed in East Asia. Its rhizome has been used as an important crude drug in traditional Chinese and Japanese medicines for the treatment of numerous dise...

Authors: Takahiro Tsusaka, Bunsho Makino, Ryo Ohsawa and Hiroshi Ezura

Identification of differentially expressed miRNAs in differentiating benign from malignant pleural effusion

Tuberculosis pleural effusion (TPE) and malignant pleural effusion (MPE) are very common clinical complications. Considering the totally different prognosis and clinical treatment of TPE and MPE, the accurate ...

Authors: Quanlei Bao, Yaping Xu, Ming Ding and Ping Chen

Advances in salt tolerance molecular mechanism in tobacco plants

Tobacco, an economic crop and important model plant, has received more progress in salt tolerance with the aid of transgenic technique. Salt stress has become a key research field in abiotic stress. The study ...

Authors: Haiji Sun, Xiaowen Sun, Hui Wang and Xiaoli Ma

Morphological variation in Cynodon dactylon (L.) Pers., and its relationship with the environment along a longitudinal gradient

Geographical variation in morphological traits may reflect evolutionary patterns of morphological adaptability along environmental gradients. Comprehensive information on longitudinal patterns of morphological...

Authors: Miaoli Wang, Jingxue Zhang, Zhipeng Guo, Yongzhuo Guan, Gen Qu, Jianyu Liu, Yuxia Guo and Xuebing Yan

Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout

Genetic background affects serum urate concentration and gout risk, especially regarding these variants in the urate-transporter gene ABCG2. However, the role of epistasis between PKD2 and ABCG2 on the pathogenes...

Authors: Zheng Dong, Jingru Zhou, Shuai Jiang, Yuan Li, Dongbao Zhao, Chengde Yang, Yanyun Ma, Hongjun He, Hengdong Ji, Li Jin, Hejian Zou and Jiucun Wang

Profiling of the germline mutation BRCA1: p.Ile1845fs in a large cohort of Han Chinese breast cancer

Breast cancer is a one of the malignant carcinomas partially caused by genetic risk factors. Germline BRCA1 gene mutations are reportedly associated with breast cancers. Identification of BRCA1 mutations greatly ...

Authors: Yu Wu, Huanhuan Zhang, Xiaoling Weng, Honglian Wang, Qinghua Zhou, Ying Wu, Yi Shen and Zhen Hu

Neonatal Crohn’s disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report

To investigate the clinical and genetic characteristics of neonatal Crohn’s disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed.

Authors: Hongyan Lv, Baojun Qiao, Liyuan Fang, Lihong Yang, Qiuli Wang, Sujing Wu, Pengshun Ren and Lianxiang Li

Genetic interactions between Protein Kinase D and Lobe mutants during eye development of Drosophila melanogaster

In Drosophila, the development of the fly eye involves the activity of several, interconnected pathways that first define the presumptive eye field within the eye anlagen, followed by establishment of the dorso-v...

Authors: Dieter Maier, Anja C. Nagel and Anette Preiss

Responses of earliness and lateness genes for heading to different photoperiods, and specific response of a gene or a pair of genes to short day length in rice

Heading time is an important trait for regional and seasonal adaptabilities in rice, and is controlled by genetic factors in relation with environmental factors, mainly day length and temperature. The followin...

Authors: Birendra Bahadur Rana, Misa Kamimukai, Mukunda Bhattarai, Yohei Koide and Masayuki Murai

Identification of key microRNAs in the carotid arteries of ApoE^−/− mice exposed to disturbed flow

Atherosclerosis (AS) is one of the main causes of cardiovascular disease. AS plaques often occur in blood vessels with oscillatory blood flow and their formation can be regulated by microRNAs (miRNAs). The aim...

Authors: Xinzhou Wang, Shuibo Gao, Liping Dai, Zhentao Wang and Hong Wu

Identification and profiling of microRNAs responsive to cadmium toxicity in hepatopancreas of the freshwater crab Sinopotamon henanense

Cadmium (Cd) is a ubiquitous environmental toxicant for aquatic animals. The freshwater crab, Sinopotamon henanense (S. henanense), is a useful model for monitoring Cd exposure since it is widely distributed in s...

Authors: Peng Xu, Huiqin Guo, Huihui Wang, Yuxin Xie, Shao Chin Lee, Ming Liu, Jian Zheng, Xiuli Mao, Huan Wang, Fatao Liu, Chunling Wan, Shengying Qin, Yun Liu, Meirong Zhao and Lan Wang

Mendel’s pea crosses: varieties, traits and statistics

A controversy arose over Mendel’s pea crossing experiments after the statistician R.A. Fisher proposed how these may have been performed and criticised Mendel’s interpretation of his data. Here we re-examine M...

Authors: T. H. Noel Ellis, Julie M. I. Hofer, Martin T. Swain and Peter J. van Dijk

Genetic diversity and structure of Capsicum annuum as revealed by start codon targeted and directed amplified minisatellite DNA markers

Identification of high resolving DNA-based markers is of paramount importance to unlock the potential of genetic diversity and selection of unique accessions of Capsicum annuum L., within Cross River and Ebonyi S...

Authors: David O. Igwe, Celestine A. Afiukwa, George Acquaah and George N. Ude

Identification of RUNX2 variants associated with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple dental abnormalities, and short stature...

Authors: Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang, Xuefan Gu and Yongguo Yu

bicoid RNA localization requires the trans-Golgi network

The formation of the bicoid (bcd) mRNA gradient is a crucial step for Bcd protein gradient formation in Drosophila. In the past, a microtubule (MT)-based cortical network had been shown to be indispensable for bc...

Authors: Xiaoli Cai, Khalid Fahmy and Stefan Baumgartner

Detect accessible chromatin using ATAC-sequencing, from principle to applications

Chromatin accessibility is crucial for gene expression regulation in specific cells and in multiple biological processes. Assay for Transposase Accessible Chromatin with high-throughput sequencing (ATAC-seq) i...

Authors: Yuanyuan Sun, Nan Miao and Tao Sun

Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review

Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family memb...

Authors: Nan Liu, Jiajun Chen, Chuan Xu, Tianji Shi and Jia Li

Expression analysis of Argonaute genes in maize (Zea mays L.) in response to abiotic stress

Argonaute (AGO) protein is a kind of RNA binding protein that plays an integral role in the gene-silencing pathways guided by small RNAs. But there are few studies about the regulation of AGO genes responded t...

Authors: Lihong Zhai, Feng Teng, Kangpeng Zheng, Juan Xiao, Wenbin Deng and Wei Sun

ABCG2 gene polymorphism rs2231142 is associated with gout comorbidities but not allopurinol response in primary gout patients of a Chinese Han male population

One common ATP-binding cassette subfamily G member 2 (ABCG2) gene variant, which is encoded by the single nucleotide polymorphism (SNP) rs2231142, was identified to take an essential part in gouty arthritis. H...

Authors: Keke Zhang and Changgui Li

Integrated identification of key genes and pathways in Alzheimer’s disease via comprehensive bioinformatical analyses

Alzheimer’s disease (AD) is known to be caused by multiple factors, meanwhile the pathogenic mechanism and development of AD associate closely with genetic factors. Existing understanding of the molecular mech...

Authors: Tingting Yan, Feng Ding and Yan Zhao

A co-expression network for differentially expressed genes in bladder cancer and a risk score model for predicting survival

Urothelial bladder cancer (BLCA) is one of the most common internal malignancies worldwide with poor prognosis. This study aims to explore effective prognostic biomarkers and construct a prognostic risk score ...

Authors: Zihao Chen, Guojun Liu, Aslam Hossain, Irina G. Danilova, Mikhail A. Bolkov, Guoqing Liu, Irina A. Tuzankina and Wanlong Tan

Identification of serum microRNAs as diagnostic biomarkers for schizophrenia

At present, the schizophrenia diagnoses are based on the clinical symptoms and behaviors neglecting the laboratory test indicators.

Authors: Kuanjun He, Chuang Guo, Meng Guo, Shuping Tong, Qiuli Zhang, Hongjun Sun, Lin He and Yongyong Shi

Mapping and characterization of a quantitative trait locus resistance to the brown planthopper in the rice variety IR64

Rice planthoppers (main brown planthopper, Nilaparvata lugens Stål; BPH) was one of substantial threats to Asia rice production as its serious destruction and difficulties in control under field conditions. Notab...

Authors: Meng Yang, Ling Cheng, Liuhui Yan, Wan Shu, Xinyi Wang and Yongfu Qiu

Proteomic characterization of bovine granulosa cells in dominant and subordinate follicles

Characterization of molecular factors regulating ovarian follicular development is critical to understanding its functional mechanism of controlling the estrous cycle, determining oocyte competency, and regula...

Authors: Qingling Hao, Zhiwei Zhu, Dongmei Xu, Wenzhong Liu, Lihua Lyu and Pengfei Li

Identification of five hub genes as monitoring biomarkers for breast cancer metastasis in silico

Breast cancer is one of the most common endocrine cancers among females worldwide. Distant metastasis of breast cancer is causing an increasing number of breast cancer-related deaths. However, the potential me...

Authors: Yun Cai, Jie Mei, Zhuang Xiao, Bujie Xu, Xiaozheng Jiang, Yongjie Zhang and Yichao Zhu

Association of SYNE1 locus with bipolar disorder in Chinese population

Genome-wide association studies (GWAS) suggest that rs9371601 in the SYNE1 gene is a risk SNP for bipolar disorder (BPD) in populations of European ancestry, but further replication analyses across distinct popul...

Authors: Wenqiang Li, Yongfeng Yang, Binbin Luo, Yan Zhang, Xueqin Song, Ming Li and Luxian Lv

Jérôme Lejeune passed away 25 years ago

Authors: Vicente Soriano

Differentially expressed genes between systemic sclerosis and rheumatoid arthritis

Evidence is accumulating to characterise the key differences between systemic sclerosis (SSc) and rheumatoid arthritis (RA), which are similar but distinct systemic autoimmune diseases. However, the difference...

Authors: Zhenyu Sun, Wenjuan Wang, Degang Yu and Yuanqing Mao

Bread wheat: a role model for plant domestication and breeding

Bread wheat is one of the most important crops in the world. Its domestication coincides with the beginning of agriculture and since then, it has been constantly under selection by humans. Its breeding has fol...

Authors: Eduardo Venske, Railson Schreinert dos Santos, Carlos Busanello, Perry Gustafson and Antonio Costa de Oliveira

Polymorphism of the PPARD Gene and Dynamic Balance Performance in Han Chinese Children

Athletic performances are complex traits with heritability of ~66%. Dynamic balance is one of the most important athletic performances, and there has been little studies for it in sports genomics. The candidate P...

Authors: Yixuan Cao, Qiyue Zhang, Jianhua Chen, Zhiqiang Li, Zhaowei Zhou, Jiawei Shen, Dong Wang, Dun Pan, Zhuo Wang, Dandan Ke, Xiaofei Wang, Dajiang Lu, Ying Zhao, Shulin Cheng and Yongyong Shi

Identification of the defense-related gene VdWRKY53 from the wild grapevine Vitis davidii using RNA sequencing and ectopic expression analysis in Arabidopsis

Grapevine is an important fruit crop grown worldwide, and its cultivars are mostly derived from the European species Vitis vinifera, which has genes for high fruit quality and adaptation to a wide variety of clim...

Authors: Ying Zhang, Jia-Long Yao, Hu Feng, Jianfu Jiang, Xiucai Fan, Yun-Fei Jia, Ran Wang and Chonghuai Liu

First report of bicolour FISH of Berberis diaphana and B. soulieana reveals interspecific differences and co-localization of (AGGGTTT)₃ and rDNA 5S in B. diaphana

Berberis consists of approximately 500 species and is the largest genus in Berberidaceae. Most Berberis species lack cytological data, and bicolour fluorescence in situ hybridization (FISH) has never been perform...

Authors: Juncheng Liu and Xiaomei Luo

Transcriptome profiling of the fertile parent and sterile hybrid in tea plant flower buds

The tea plant is a crucial economic crop. The floral organ development consumes a large amount of nutrients, which affects the leaf yield. To understand the mechanism by which the tea plant produces sterile fl...

Authors: Linbo Chen, Hao Qu, Lifei Xia, Yue Liu, Huibing Jiang, Yunnan Sun, Mingzhi Liang and Changjun Jiang

The inhibition of miR-126 in cell migration and invasion of cervical cancer through regulating ZEB1

Cervical cancer is a malignancy that’s common in female with high incidence and mortality worldwide. MicroRNAs (miRNAs) act a pivotal part in human cancer development. Our aim was to investigate the effect of ...

Authors: Jiqin Xu, Hongyun Wang, Huiyan Wang, Qing Chen, Li Zhang, Chao Song, Qianqian Zhou and Ying Hong