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Genes & Diseases

Yi Hou, Xuemei Cao, Xiangnan Hu, Xinyu Li, Xiaoqin Shi, Hongying Wang, Chuan Peng, Jiayu Li, Jibin Li, Qifu Li, Chaodong Wu, Xiaoqiu Xiao
Traditional thiazolidinediones (TZDs), such as rosiglitazone, are peroxisome proliferator-activated receptor γ (PPARγ) potent agonists that can be used to treat type 2 diabetes but carry unwanted effects, including increased risk for fracture. The present work aimed to compare the insulin-sensitizing efficacies and bone-loss side effects of CMHX008, a novel TZDs-like PPARγ partial agonist, with those of rosiglitazone. A TR-FRET PPARγ competitive binding assay was used to compare the binding affinity between CMHX008 and rosiglitazone...
September 2018: Genes & Diseases
Mukul Rastogi, Subendu Sarkar, Ankita Makol, Rana Sandip Singh, Uma Nahar Saikia, Dibyajyoti Banerjee, Seema Chopra, Anuradha Chakraborti
Rheumatic heart disease (RHD) is a major cause of cardiovascular morbidity and mortality in developing nations like India. RHD commonly affects the mitral valve which is lined by a single layer of endothelial cells (ECs). The role of ECs in mitral valve damage during RHD is not well elucidated. In here, anti-endothelial cell antibody from RHD patients has been used to stimulate the ECs (HUVECs and HMVECs). ECs proinflammatory phenotype with increased expression of TNFα, IL-6, IL-8, IFNγ, IL-1β, ICAM1, VCAM1, E-selectin, laminin B, and vimentin was documented in both ECs...
September 2018: Genes & Diseases
W E I Yi, Tang Xiang-Liang, Zhou Yu, Liu Bin, Shen Lian-Ju, Long Chun-Lan, L I N Tao, H E Da-Wei, W U Sheng-de, W E I Guang-Hui
Di-(2-ethylhexyl) phthalate (DEHP), is known to impair testicular functions and reproduction. However, its effects on immature testis Blood-testis barrier (BTB) and the underlying mechanisms remain obscure. We constructed a rat model to investigate the roles of autophagy in BTB toxicity induced by DEHP. Sprague-Dawley rats were developmentally exposed to 0, 250 and 500 mg/kg DEHP via intragastric administration from postnatal day (PND) 1 to PND 35. Testicular morphology, expressions of BTB junction proteins and autophagy related proteins were detected...
September 2018: Genes & Diseases
Marwa Chaouali, Agostinho Carvalho, Aymen Tezeghdenti, Mouna Ben Azaiez, Cristina Cunha, Ezzeddine Ghazouani, Radhia Kochkar
Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis (AIH) are still not full elucidated. Since the CTLA-4 molecule is a key modulator of the lymphocytes responses we hypothezied that deficiencies or mutations in the gene encoding CTLA4 protein may be involved in AIH susceptibility and trigger the autoimmune response. We investigated 3 distinct polymorphic sites (+49A > G, CT60 G > A and -318C > T) of the CTLA4 gene in 50 AIH patients and 100 healthy controls using the KASP genotyping technology...
September 2018: Genes & Diseases
Yongying Hou, Ke Wang, Weijun Wan, Yue Cheng, Xia Pu, Xiufeng Ye
Ischemic stroke is a common disease with high mortality and morbidity worldwide. One of the important pathophysiological effects of ischemic stroke is apoptosis. A neuroprotective effect is defined as the inhibition of neuronal apoptosis to rescue or delay the infarction in the surviving ischemic penumbra. Resveratrol is a natural polyphenol that reportedly prevents cerebral ischemia injury by regulating the expression of PI3K/AKT/mTOR. Therefore, this study aimed to elucidate the neuroprotective effect of resveratrol on cerebral ischemia/reperfusion injury and to investigate the signaling pathways and mechanisms through which resveratrol regulates apoptosis in the ischemic penumbra...
September 2018: Genes & Diseases
Yamin Liu, Ting-Li Han, Xiaofang Luo, Yuxiang Bai, Xuehai Chen, Wei Peng, Xi Xiong, Philip N Baker, Chao Tong, Hongbo Qi
Preeclampsia is characterized by new onset of hypertension and proteinuria after 20 weeks' gestation and is a leading cause of maternal and neonatal morbidity and mortality. The pathogenesis of preeclampsia is often associated with aberrant trophoblast function that leads to shallow placental implantation. However, the exact underlying mechanisms remain unclear. Placental LncZBTB39-1:2 expression level was investigated in 20 healthy placentae and 20 placentae with preeclampsia using qRT-PCR, and the metabolic profile of trophoblasts overexpressing LncZBTB39-1:2 in vitro was analysed using gas chromatography-mass spectrometry (GC-MS)...
September 2018: Genes & Diseases
Weiwei Xie, Wei Zheng, Min Liu, Qizhong Qin, Yunpeng Zhao, Zhi Cheng, Fengjin Guo
Inflammation is indispensable for host defense, whereas excessive inflammation often develop inflammatory diseases. Autophagy is thought to be engaged in many extracellular stress responses, such as starvation and innate immunity. Thus, autophagy plays an important role in maintaining homeostasis. The purpose of this study was to elucidate the function of BRF1 in the regulation of inflammation and autophagy response in macrophages. We found that BRF1 inhibited the LPS-induced inflammatory factors expression and the autophagy flux in macrophage...
September 2018: Genes & Diseases
Yong-Guo Zhang, Yinglin Xia, Rong Lu, Jun Sun
Fish oil is a natural product that has shown efficacy for managing inflammatory conditions with few side effects. There is emerging evidence that crosstalks between gut epithelial cells and immune cells contribute to chronic infectious diseases. HIV-infected (HIV+) older adults show age-related co-morbidities at a younger age than their uninfected counterparts. Persistent inflammation related to the chronic viral infection and its sequelae is thought to contribute to this disparity. However, little is known about whether fish oil reduces intestinal inflammation in HIV + patients...
September 2018: Genes & Diseases
Jiang-Jiang Qin, Xin Li, Courtney Hunt, Wei Wang, Hui Wang, Ruiwen Zhang
The p53 tumor suppressor plays a major role in controlling the initiation and development of cancer by regulating cell cycle arrest, apoptosis, senescence, and DNA repair. The MDM2 oncogene is a major negative regulator of p53 that inhibits the activity of p53 and reduces its protein stability. MDM2, p53, and the p53-MDM2 pathway represent well-documented targets for preventing and/or treating cancer. Natural products, especially those from medicinal and food plants, are a rich source for the discovery and development of novel therapeutic and preventive agents against human cancers...
September 2018: Genes & Diseases
Yi-Jun Wang, Rochelle Fletcher, Jian Yu, Lin Zhang
Emerging evidence suggests that the clinical success of conventional chemotherapy is not solely attributed to tumor cell toxicity, but also results from the restoration of immunosurveillance, which has been largely neglected in the past preclinical and clinical research. Antitumor immune response can be primed by immunogenic cell death (ICD), a type of cell death characterized by cell-surface translocation of calreticulin (CRT), extracellular release of ATP and high mobility group box 1 (HMGB1), and stimulation of type I interferon (IFN) responses...
September 2018: Genes & Diseases
Quan Wang, Zhili Wang, Chun Wu, Zhengxia Pan, Li Xiang, Hang Liu, Xin Jin, Kerong Tong, Shulei Fan, Xianqing Jin
Tetralogy of Fallot (TOF) is a congenital heart disease characterized by abnormal cardiomyocyte differentiation in the right ventricular outflow tract (RVOT), and HA117 is a novel long noncoding RNA (lncRNA) with anti-differentiation roles. To investigate the potential association of HA117 with TOF, we collected 84 RVOT tissues from patients with TOF. We determined the expression of HA117 in RVOT samples from TOF patients and collected clinical data to conduct a cross-sectional and short-term follow-up study...
June 2018: Genes & Diseases
Shujuan Yan, Ruyi Zhang, Ke Wu, Jing Cui, Shifeng Huang, Xiaojuan Ji, Liping An, Chengfu Yuan, Cheng Gong, Linghuan Zhang, Wei Liu, Yixiao Feng, Bo Zhang, Zhengyu Dai, Yi Shen, Xi Wang, Wenping Luo, Bo Liu, Rex C Haydon, Michael J Lee, Russell R Reid, Jennifer Moriatis Wolf, Qiong Shi, Hue H Luu, Tong-Chuan He, Yaguang Weng
Mesenchymal stem cells (MSCs) are multipotent stem cells and capable of differentiating into multiple cell types including osteoblastic, chondrogenic and adipogenic lineages. We previously identified BMP9 as one of the most potent BMPs that induce osteoblastic differentiation of MSCs although exact molecular mechanism through which BMP9 regulates osteogenic differentiation remains to be fully understood. Here, we seek to develop a recombinant adenovirus system to optimally silence mouse BMP9 and then characterize the important role of BMP9 in osteogenic differentiation of MSCs...
June 2018: Genes & Diseases
Heng Xiao, Baoyong Zhou, Ning Jiang, Yunshi Cai, Xiongwei Liu, Zhengrong Shi, Ming Li, Chengyou Du
CDV3 is correlated with tumorigenesis and may affect some biological process in cancer. In this study, we explore the role of CDV3 in HCC. According to the TCGA data base, CDV3 is over-expressed in HCC tissues. Up-regulation of CDV3 is correlated with lower over-all survival rate in HCC patients. In HCC samples from our hospital, CDV3 is also enriched in cancer tissues and CDV3 expression associated with HCC pathological T stage. What is more, higher CDV3 expression could forecast poor survival rate in HCC patients...
June 2018: Genes & Diseases
Lian Zhang, Yunlong Lei, Ying Zhang, Yi Li, Youquan Bu, Fangzhou Song, Chundong Zhang
Our previous studies have demonstrated that proline-rich protein 11 (PRR11) is a novel tumor-related gene and implicates in regulating the proliferation in lung cancer. However, its precise role in cell cycle progression remains unclear. Our recent evidences show that PRR11 silencing has an effect on autophagy in non-small-cell lung cancer (NSCLC) cells. Two human NSCLC cell lines, H1299 and A549 were transiently transfected with against PRR11 siRNA. The Cell Counting Kit-8 and plate clone formation assay showed that downregulation of PRR11 inhibited the cell proliferation associated with cell cycle related genes reduced...
June 2018: Genes & Diseases
Nayera E Hassan, Sahar A El-Masry, Waheba Zarouk, Rokia A El Banna, Rehab M Mosaad, Muhammad Al-Tohamy, Abeer Ramadan Salamah
Obesity is complex heterogeneous disease controlled by genes, environmental factors, and their interaction. Genetic factors account for 40-90% of the body mass index variations. Body mass index (BMI) of children correlates more closely with maternal than paternal BMI. So, this studu was aimed to investigate the role of leptin receptor LEPR Gln223Arg, the uncoupling protein 2 (UCP2 G 866 A) and insulin receptor gene (INSR exon 17) polymorphisms in the pathogenesis of obesity. A cross-sectional study executed on 130 children and their obese mothers; classified into 2 groups according to their BMI...
June 2018: Genes & Diseases
Xinyi Yu, Liqun Chen, Ke Wu, Shujuan Yan, Ruyi Zhang, Chen Zhao, Zongyue Zeng, Yi Shu, Shifeng Huang, Jiayan Lei, Xiaojuan Ji, Chengfu Yuan, Linghuan Zhang, Yixiao Feng, Wei Liu, Bo Huang, Bo Zhang, Wenping Luo, Xi Wang, Bo Liu, Rex C Haydon, Hue H Luu, Tong-Chuan He, Hua Gan
Glomerular podocytes are highly specialized epithelial cells and play an essential role in establishing the selective permeability of the glomerular filtration barrier of kidney. Maintaining the viability and structural integrity of podocytes is critical to the clinical management of glomerular diseases, which requires a thorough understanding of podocyte cell biology. As mature podocytes lose proliferative capacity, a conditionally SV40 mutant tsA58-immortalized mouse podocyte line (designated as tsPC) was established from the Immortomouse over 20 years ago...
June 2018: Genes & Diseases
Mallahalli S Manu, Kuruvanthe S Rachana, Gopal M Advirao
Insulin signal is one of the vital signaling cascade required for Schwann cells to myelinate the axons of peripheral nervous system (PNS). Myelin formation of peripheral nerve is a complex molecular event controlled by different neurotrophic and transcription factors. The altered or failure in this signaling progression is one of the reasons behind the demyelination of peripheral neurons in diabetic peripheral neuropathy (DPN). The Schwann cell in PNS includes POU domain transcription factor OCT-6 expression...
June 2018: Genes & Diseases
Abraham Peele Karlapudi, Venkateswarulu T C, Jahnavi Tammineedi, Krupanidhi Srirama, Lohit Kanumuri, Vidya Prabhakar Kodali
CRISPR genome editing utilizes Cas9 nuclease and single guide RNA (sgRNA), which directs the nuclease to a specific site in the genome and makes a double-stranded break (DSB). Design of sgRNA for CRISPR-Cas targeting, and to promote CRISPR adaptation, uses a regulatory mechanism that ensures maximum CRISPR-Cas9 system functions when a bacterial population is at highest risk of phage infection. Acinetobacter baumannii is the most regularly identified gram-negative bacterium infecting patients. Recent reports have demonstrated that the extent of diseases caused by A...
June 2018: Genes & Diseases
Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar
In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in FGFR2 gene. Presence of two SNPs rs1047057 and rs554851880 in FGFR2 gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study is the first reported case of exome sequencing approach on an Apert's syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship...
June 2018: Genes & Diseases
Jin Liao, Xin Tian, Hao Wang, Zheng Xiao
Epilepsy and migraine often co-occur. From the clinical symptoms, they often have some signs of symptoms before onset; from the pathogenesis of epilepsy and migraine, both of them have a high degree of neuronal excitement and ion channel abnormalities; in terms of treatment, many antiepileptic drugs are work in migraine. All of this indicates that they interact with each other. But it is undeniable that there are interactions and relationships between them, and there are also some differences such as the different clinical episodes, the different ways of neuronal haperexcitability and the different drug treatment programs...
June 2018: Genes & Diseases
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