Paradox-driven adventures in the development of cancer immunology and immunotherapy
Publication date: Available online 10 July 2019Source: Genes & DiseasesAuthor(s): Whitney Barham, Joanina K. Gicobi, Yiyi Yan, Roxana S. Dronca, Haidong DongAbstractAfter more than one hundred years of documented trials, immunotherapy has become a standard of care in the treatment of human cancer. Much of the knowledge that led to recent breakthroughs seems quite logical from today’s point of view. However, what we now cite as facts were originally considered paradoxes, meaning something contrary to expectations or perceived opinion at the time. In order to make gains in the field of immunotherapy, one had to be ...
Source: Genes and Diseases - July 12, 2019 Category: Genetics & Stem Cells Source Type: research

Molecular mechanisms of congenital heart disease in Down syndrome
Publication date: Available online 8 July 2019Source: Genes & DiseasesAuthor(s): Hui Zhang, Lingjuan Liu, Jie TianAbstractDown syndrome (DS), as a typical genomic aneuploidy, is a common cause of various birth defects, among which is congenital heart disease (CHD). 40-60% neonates with DS have some kinds of CHD. However, the molecular pathogenic mechanisms of DS associated CHD are still not fully understood. This review summarizes available studies on DS associated CHD from seven aspects so as to provide a crucial and updated overview of what we known so far in this domain. (Source: Genes and Diseases)
Source: Genes and Diseases - July 9, 2019 Category: Genetics & Stem Cells Source Type: research

Predictive biomarkers for immune checkpoint blockade and opportunities for combination therapies
Publication date: Available online 3 July 2019Source: Genes & DiseasesAuthor(s): Hongxing Shen, Eddy Shih-Hsin Yang, Marty Conry, John Fiveash, Carlo Contreras, James A. Bonner, Lewis Zhichang ShiAbstractImmune checkpoint blockade therapies (ICBs) are a prominent breakthrough in cancer immunotherapy in recent years (named the 2013 “Breakthrough of the Year” by the Science magazine). Thus far, FDA-approved ICBs primarily target immune checkpoints CTLA-4, PD-1, and PD-L1. Notwithstanding their impressive long-term therapeutic benefits, their efficacy is limited to a small subset of cancer patients. In additio...
Source: Genes and Diseases - July 4, 2019 Category: Genetics & Stem Cells Source Type: research

Regulation of the Hippo signaling pathway by deubiquitinating enzymes in cancer
Publication date: Available online 24 June 2019Source: Genes & DiseasesAuthor(s): Ashley Mussell, Costa Frangou, Jianmin ZhangAbstractRegulation of the Hippo signaling pathway is essential for normal organ growth and tissue homeostasis. The proteins that act to regulate this pathway are important for ensuring proper function and cellular location. Deubiquitinases (DUBs) are a family of proteases that act upon many proteins. While ubiquitinases add ubiquitin and target proteins for degradation, DUBs act by removing ubiquitin (Ub) moieties. Changes in ubiquitin chain topology results in the stabilization of proteins, mem...
Source: Genes and Diseases - June 25, 2019 Category: Genetics & Stem Cells Source Type: research

CircRNA expression profiles in decidual tissue of patients with early recurrent miscarriage
This study aimed to evaluate the potential role of circRNAs in decidual tissue of patients with early recurrent miscarriage (RM). We constructed circRNA expression profiles in decidual tissue using microarray data. A total of 123 differentially expressed circRNAs, including 78 upregulated and 45 downregulated circRNAs were detected in the early RM group compared with the control group (P
Source: Genes and Diseases - June 25, 2019 Category: Genetics & Stem Cells Source Type: research

High prevalence of vitamin D insufficiency in Chinese children with upper limb fractures
This study aimed at investigating the vitamin D status of pediatric patients with upper limb fractures and finding out the influences of age, gender, season and fracture sites. 695 patients were admitted for upper limb fractures between November 1st 2014 and October 31st 2015. 224 healthy children were included during the same period. Serum 25(OH)D was measured at the time of visit and their demographic data were recorded. Generally fracture patients had significant lower vitamin D level than the healthy children. The average serum 25(OH)D of the patients was 24.5ng/ml, compared to 28.1ng/ml in healthy children. Vitamin D ...
Source: Genes and Diseases - June 22, 2019 Category: Genetics & Stem Cells Source Type: research

A Novel Inhibitor of MDM2 Oncogene Blocks Metastasis of Hepatocellular Carcinoma and Overcomes Chemoresistance
Publication date: Available online 19 June 2019Source: Genes & DiseasesAuthor(s): Wei Wang, Bo Hu, Jiang-Jiang Qin, Jianwen Cheng, Xin Li, Mehrdad Rajaei, Jia Fan, Xin-Rong Yang, Ruiwen ZhangAbstractOverexpression of the MDM2 oncogene and mutations in the p53 tumor suppressor commonly occur in hepatocellular carcinoma (HCC) and are associated with increased mortality due to this disease. Inhibiting MDM2 has been demonstrated to be a valid approach for the treatment of HCC. However, most of the MDM2 inhibitors evaluated to date have been designed to block the MDM2 and p53 binding, and have limited efficacy against tumor...
Source: Genes and Diseases - June 19, 2019 Category: Genetics & Stem Cells Source Type: research

PRMT5 in gene regulation and hematologic malignancies
Publication date: Available online 19 June 2019Source: Genes & DiseasesAuthor(s): Fen Zhu, Lixin RuiAbstractArginine methylation is a common posttranslational modification that governs important cellular processes and impacts development, cell growth, proliferation, and differentiation. Arginine methylation is catalyzed by protein arginine methyltransferases (PRMTs), which are classified as type I and type II enzymes responsible for the formation of asymmetric and symmetric dimethylarginine, respectively. PRMT5 is the main type II enzyme that catalyzes symmetric dimethylarginine of histone proteins to induce gene silen...
Source: Genes and Diseases - June 19, 2019 Category: Genetics & Stem Cells Source Type: research

Association of a genetic variant in AKT1 gene with features of the metabolic syndrome
Publication date: Available online 17 June 2019Source: Genes & DiseasesAuthor(s): Fateme Sadat Eshaghi, Hamideh Ghazizadeh, Sakine Kazami Nooreini, Ameneh Timar, Habibollah Esmaeily, Mehrane Mehramiz, Amir Avan, Majid Ghayour-MobarhanAbstractMetabolic syndrome (MetS) is a clustering of metabolic abnormalities that is associated with increased risk of developing cardiovascular disease and type 2 diabetes. There is growing body of data showing the associations of genetic variants of the genes involved in the PI3K/AKT/mTOR pathway with diabetes and obesity. We aimed to investigate the association between MetS and its comp...
Source: Genes and Diseases - June 18, 2019 Category: Genetics & Stem Cells Source Type: research

Pioglitazone ameliorates neuronal damage after traumatic brain injury via the PPARγ/NF-κB/IL-6 signaling pathway
Publication date: Available online 6 June 2019Source: Genes & DiseasesAuthor(s): Yongbing Deng, Xue Jiang, Xiaoyan Deng, Hong Chen, Jie Xu, Zhaosi Zhang, Geli Liu, Zhu yong, Chengfu Yuan, Xiaochuan Sun, Changdong WangAbstractTraumatic brain injury (TBI) is the major cause of high mortality and disability rates worldwide. Pioglitazone is an activator of peroxisome proliferator-activated receptor-gamma (PPARγ) that can reduce inflammation following TBI. Clinically, neuroinflammation after TBI lacks effective treatment. Although there are many studies on PPARγ in TBI animals, only few could be converted into c...
Source: Genes and Diseases - June 6, 2019 Category: Genetics & Stem Cells Source Type: research

Correlation between IL28B/TLR4 genetic variants and HCC development with/without DAAs treatment in chronic HCV patients
This study is designed to explore the relation between IL28B/TLR4 genetic variants and each of the followings; HCC development post SOF/DCV treatment, progression to HCC in naïve patients and SOF/DCV therapy outcome. A total of 493 blood samples were collected (controls (n=70); HCV patients treated with SOF/DCV (n=252) of whom 65 patients developed HCC, 187 patients didn’t develop HCC (125 responders, 62 relapsers); naïve HCV patients (n= 171) had early (n=48), late liver fibrosis (n=21) and HCC (n=102)). Both SNPs were genotyped using a TaqMan 5’ allelic discrimination assay. At IL28B rs12979860 SNP,...
Source: Genes and Diseases - May 28, 2019 Category: Genetics & Stem Cells Source Type: research

Ubiquitination status does not affect Vps34 degradation
Publication date: Available online 25 May 2019Source: Genes & DiseasesAuthor(s): Jing Tang, Fei Sun, Xiao-Juan Deng, Yuan-Lin Ma, Kun-Yi Li, Ying Tang, Guo-Jun ChenAbstractVps34 (vacuolar protein-sorting 34) plays important role in autophagy and endosomal trafficking. These processes are closely associated protein ubiquitination and degradation. We have hypothesized that Vps34 ubiquitination status would also control its degradation. Here, we report that our results did not support this assumption. In cells transiently transfected with ubiquitin (UB) constructs contained different lysine residues (Ks), Vps34 ubiquitina...
Source: Genes and Diseases - May 25, 2019 Category: Genetics & Stem Cells Source Type: research

Biomechanical analysis of the computer-assisted internal fixation of a femoral neck fracture
Publication date: Available online 23 April 2019Source: Genes & DiseasesAuthor(s): Hui Lu, Hongquan Shen, Shuqing Zhou, Weidong Ni, Dianming JiangAbstractThe number and spatial configuration of the screws will affect the stability and prognosis of the fractures. In our study, we assessed the biomechanical effects of the double-head cannulated compression screw (DhCCS) and ordinary cannulated compression screw (OCCS) for the treatment of femoral neck fractures by using computer finite element analysis. The original digital imaging and communications in medicine (DICOM)data of a proximal femur were imported into Material...
Source: Genes and Diseases - May 24, 2019 Category: Genetics & Stem Cells Source Type: research

Mutations in EZH2 are associated with poor prognosis for patients with myeloid neoplasms
Publication date: Available online 16 May 2019Source: Genes & DiseasesAuthor(s): Qi Zhang, Qi Han, Jie Zi, Jinlong Ma, huihui Song, Yulu Tian, Mary McGrath, Chunhua Song, Zheng GeAbstractEZH2 is a component of the polycomb repressive complex 2 (PRC2), which is a highly conserved histone methyltransferase that methylates lysine 27 of histone 3. EZH2 mutations are associated with oncogenesis and progression of cancers. However, the relationship between the clinical outcome of patients with myeloid malignancies and EZH2 mutations is controversial. Therefore, we performed a meta-analysis of 8 studies (n= 2243 patients) tha...
Source: Genes and Diseases - May 16, 2019 Category: Genetics & Stem Cells Source Type: research

Three-dimensional printed tissue engineered bone for canine mandibular defects
ConclusionsThe tissue-engineered bone was constructed by 3D printing mold and high-temperature sintering to produce nanoporous hydroxyapatite scaffolds, which repair in situ bone defects in experimental dogs. The time of compositing for tissue engineered bone was reduced from 8 d to 2 d without the in vivo effect. (Source: Genes and Diseases)
Source: Genes and Diseases - May 10, 2019 Category: Genetics & Stem Cells Source Type: research

HCV infection causes cirrhosis in human by step-wise regulation of host genes involved in cellular functioning and defense during fibrosis: identification of bio-markers
Publication date: Available online 8 May 2019Source: Genes & DiseasesAuthor(s): Bushra Ijaz, Waqar Ahmad, Trina Das, Khadija Shabbiri, Tayyab Husnain, Sajida HassanAbstractChronic Hepatitis C Viral (HCV) infection is a leading health problem worldwide and resulted in fibrotic scar formation, and finally liver-cirrhosis. Although contemporary therapies can partially reverse this destructive process, the rehabilitation is too slow and unsuitable for all chronic infections. The current study elucidates the mechanism of disease progression from early (F1) to moderate (F2, F3), and to severe fibrosis (F4)/cirrhosis in HCV g...
Source: Genes and Diseases - May 8, 2019 Category: Genetics & Stem Cells Source Type: research

Transcriptomic landscape regulated by the 14 types of bone morphogenetic proteins (BMPs) in lineage commitment and differentiation of mesenchymal stem cells (MSCs)
Publication date: Available online 8 May 2019Source: Genes & DiseasesAuthor(s): Linghuan Zhang, Qing Luo, Yi Shu, Zongyue Zeng, Bo Huang, Yixiao Feng, Bo Zhang, Xi Wang, Yan Lei, Zhenyu Ye, Ling Zhao, Daigui Cao, Lijuan Yang, Xian Chen, Bin Liu, William Wagstaff, Russell R. Reid, Hue H. Luu, Rex C. Haydon, Michael J. LeeAbstractMesenchymal stem cells (MSCs) are ubiquitously-existing multipotent progenitors that can self-renew and differentiate into multiple lineages including osteocytes, chondrocytes, adipocytes, tenocytes and myocytes. MSCs represent one of the most commonly-used adult progenitors and serve as excelle...
Source: Genes and Diseases - May 8, 2019 Category: Genetics & Stem Cells Source Type: research

Microvesicles (MIVs) secreted from adipose-derived stem cells (ADSCs) contain multiple microRNAs and promote the migration and invasion of endothelial cells
Publication date: Available online 25 April 2019Source: Genes & DiseasesAuthor(s): Bo Huang, Lin-Feng Huang, Ling Zhao, Zongyue Zeng, Xi Wang, Daigui Cao, Lijuan Yang, Zhenyu Ye, Xian Chen, Bin Liu, Tong-Chuan He, Xiaozhong WangAbstractExtracellular vesicles (EVs) such as microvesicles (MIVs) play an important role in intercellular communications. MIVs are small membrane vesicles sized 100–1000 nm in diameter that are released by many types of cells, such as mesenchymal stem cells (MSCs), tumor cells and adipose-derived stem cells (ADSC). As EVs can carry out autocrine and paracrine functions by controlling multi...
Source: Genes and Diseases - April 25, 2019 Category: Genetics & Stem Cells Source Type: research

Biomechanical analysis of the computer-assisted internal fixation of a femoral neck fracture
Publication date: Available online 23 April 2019Source: Genes & DiseasesAuthor(s): Hui Lu, Hongquan Shen, Shuqing Zhou, Weidong Ni, Dianming JiangAbstractThe number and spatial configuration of the screws will affect the stability and prognosis of the fractures. In our study, we assessed the biomechanical effects of the double-head cannulated compression screw(DhCCS) and ordinary cannulated compression screw(OCCS) for the treatment of femoral neck fractures by using computer finite element analysis. The original digital imaging and communications in medicine(DICOM)data of a proximal femur were imported into Materiaise'...
Source: Genes and Diseases - April 25, 2019 Category: Genetics & Stem Cells Source Type: research

Transcriptomic changes associated with PCK1 overexpression in hepatocellular carcinoma cells detected by RNA-Seq
Publication date: Available online 16 April 2019Source: Genes & DiseasesAuthor(s): Jin Xiang, Yuhong Zhang, Lin Tuo, Rui Liu, Dongmei Gou, Li Liang, Chang Chen, Jie Xia, Ni Tang, Kai WangAbstractPhosphoenolpyruvate carboxykinase 1 (PCK1), a step limiting enzyme of gluconeogenesis, is downregulated in hepatocellular carcinoma (HCC). Overexpression of PCK1 has been shown to suppress hepatoma cell growth, but the underlying mechanism remains unclear. We used recombinant adenovirus overexpressing PCK1 or GFP in Huh7 cells, and the differentially expressed genes (DEGs) were identified by RNA-Seq. 180 were upregulated by PCK...
Source: Genes and Diseases - April 17, 2019 Category: Genetics & Stem Cells Source Type: research

Genome-Wide Profiling of Long Noncoding RNA Expression Patterns and CeRNA Analysis in Mouse Cortical Neurons Infected with Different Strains of Borna Disease Virus
Publication date: Available online 17 April 2019Source: Genes & DiseasesAuthor(s): Lin Sun, Yujie Guo, Peng He, Xiaoyan Xu, Xiong Zhang, Haiyang Wang, Tian Tang, Wei Zhou, Ping Xu, Peng XieAbstractBorna disease virus 1 (BoDV-1) is neurotropic prototype of Bornaviruses causing neurological diseases and maintaining persistent infection in brain cells of mammalian species. Long non-coding RNA (lncRNA) is transcript of more than 200 nucleotides without protein-coding function regulating various biological processes as proliferation, apoptosis, cell migration and viral infection. However, regulatory of lncRNAs in BoDV-1 inf...
Source: Genes and Diseases - April 17, 2019 Category: Genetics & Stem Cells Source Type: research

Emergence of antibiotic resistance Pseudomonas aeruginosa in intensive care unit; a critical review
Publication date: Available online 17 April 2019Source: Genes & DiseasesAuthor(s): Preeti Pachori, Ragini Gothalwal, Puneet GandhiAbstractThe emergence of antibiotic resistant bacteria in the healthcare is a serious concern. In the Healthcare premises precisely intensive care unit are major sources of microbial diversity. Recent findings have demonstrated not only microbial diversity but also drug resistant microbes largely habitat in ICU. Pseudomonas aeruginosa found as a part of normal intestinal flora and a significant pathogen responsible for wide range of ICU acquired infection in critically ill patients. Nosocomi...
Source: Genes and Diseases - April 17, 2019 Category: Genetics & Stem Cells Source Type: research

Upregulation of the APE1 and H2AX genes and miRNAs involved in DNA damage response and repair in gastric cancer
In this study, we evaluated the expression of important genes involved in the recognition of DNA damage (ATM, ATR, and H2AX) and ROS-induced damage repair (APE1) and the expression of some miRNAs (miR-15a, miR-21, miR-24, miR-421 and miR-605) that target genes involved in the DNA damage response (DDR) in 31 fresh tissues of gastric cancer. Cytoscape v3.1.1 was used to construct the postulated miRNA:mRNA interaction network. Analysis performed by real-time quantitative PCR exhibited significantly increased levels of the APE1 (RQ = 2.55, p
Source: Genes and Diseases - April 6, 2019 Category: Genetics & Stem Cells Source Type: research

ARHGEF38 as a novel biomarker to predict aggressive prostate cancer
Publication date: Available online 3 April 2019Source: Genes & DiseasesAuthor(s): Kun Liu, Aixiang Wang, Longke Ran, Wanfeng Zhang, Song Jing, Yujing Wang, Xianqin Zhang, Geli Liu, Wang Sen, Fangzhou SongAbstractProstate cancer (PCa) metastasis is considered the leading cause of cancer death in males. Therapeutic strategies and diagnosis for stage-specific PCa have not been well understood. Rho guanine nucleotide exchange factor 38 (ARHGEF38) is related to tumor cell polarization and is frequently expressed in PCa. Microarray data of PCa were downloaded from GEO and TCGA databases. A total of 243 DEGs were screened, of...
Source: Genes and Diseases - April 5, 2019 Category: Genetics & Stem Cells Source Type: research

High-throughput 16S rDNA sequencing of the pulmonary microbiome of rats with allergic asthma
ConclusionsNumerous microbiomes stably settled in the lungs of the rats in NC and AA. The structure and diversity of the pulmonary microbiome in AA differed from those in NC. (Source: Genes and Diseases)
Source: Genes and Diseases - April 5, 2019 Category: Genetics & Stem Cells Source Type: research

The number and cytotoxicity and the expression of cytotoxicity-related molecules in peripheral natural killer (NK) cells do not predict the repeated implantation failure (RIF) for the in vitro fertilization patients
Publication date: Available online 3 April 2019Source: Genes & DiseasesAuthor(s): Hongzhan Zhang, Chunyu Huang, Xian Chen, Longfei Li, Su Liu, Yuye Li, Yongnu Zhang, Yong Zeng, Lina HuAbstractNatural killer (NK) cells are thought to play a key role in the successful establishment of a pregnancy by facilitating immunological adaptation of the semi-allogeneic developing embryo. The aim of this study was to explore the cell number, immunophenotypic characteristics, and activities of peripheral blood NK cells in women with repeated implantation failure (RIF). Peripheral blood was obtained from 27 women with RIF and 11 heal...
Source: Genes and Diseases - April 3, 2019 Category: Genetics & Stem Cells Source Type: research

The study on the safety and efficacy of amnion graft for preventing the recurrence of moderate to severe intrauterine adhesions
Publication date: Available online 30 March 2019Source: Genes & DiseasesAuthor(s): Changjiang Li, Aiqi Cai, Congcong Sun, Yanhua Mao, Benyuan Wu, Yingfeng Zhang, Yuhan Wang, Shanbi Zhou, Jia WangAbstractTranscervical resection of adhesion (TCRA) is the standard treatment for the intrauterine adhesions, but the recurrence of adhesions is a tough problem for the gynecologist. In addition, the therapeutic strategy after TCRA about prevention of recurrence remains controversial especially for the patients with moderate to severe intrauterine adhesions (IUAs). Hence, we designed this study to explore the safety and efficacy...
Source: Genes and Diseases - March 31, 2019 Category: Genetics & Stem Cells Source Type: research

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly
In this study, we identified a Thai patient having OI type III, EDS, brachydactyly, and dentinogenesis imperfecta. His dentition showed delayed eruption, early exfoliation, and severe malocclusion. For the first time, ultrastructural analysis of the tooth affected with OI/EDS showed that the tooth had enamel inversion, bone-like dentin, loss of dentinal tubules, and reduction in hardness and elasticity, suggesting severe developmental disturbance. These severe dental defects have never been reported in OI or EDS. Exome sequencing identified a novel de novo heterozygous glycine substitution, c.3296G>A, p.Gly1099Glu, in e...
Source: Genes and Diseases - March 16, 2019 Category: Genetics & Stem Cells Source Type: research

NDRG4 prevents cerebral ischemia/reperfusion injury by inhibiting neuronal apoptosis
Publication date: Available online 17 January 2019Source: Genes & DiseasesAuthor(s): Lan Wen, Lei Liu, Linyan Tong, Jinfang Li, Keming Zhang, Qinbin Zhang, Changqing LiAbstractCerebral ischemia is a major cause of mortality and long-term morbidity worldwide. NDRG4 has been shown to protect against cerebral ischemia, although the underlying mechanisms remain largely unclear. Here we found that NDRG4 expression was decreased in the brain tissues of ischemia/reperfusion (IR) rats, indicating increased apoptosis rates among cerebral cells. NDRG4 restoration via an adenovirus significantly attenuated cerebral infarct sizes ...
Source: Genes and Diseases - March 1, 2019 Category: Genetics & Stem Cells Source Type: research

Matrix metalloproteinase 13, a new target for therapy in Alzheimer's disease
Publication date: Available online 16 February 2019Source: Genes & DiseasesAuthor(s): Jean-Michel Paumier, Gopal Thinakaran (Source: Genes and Diseases)
Source: Genes and Diseases - March 1, 2019 Category: Genetics & Stem Cells Source Type: research

Impact Of Gene Mutation In The Development Of Parkinson's Disease
Publication date: Available online 27 February 2019Source: Genes & DiseasesAuthor(s): Suganya Selvaraj, Shanmughavel PiramanayagamAbstractParkinson's disease (PD) is the second most common age related neurodegenerative disorder worldwide and presents as a progressive movement disorder. Globally seven million to 10 million people have Parkinson’s disease. Parkinsonism is typically sporadic in nature. Loss of dopaminergic neurons from substantia nigra pars compacta (SNpc) and the neuronal intracellular Lewy body inclusions are the major cause of PD. Gene mutation and protein aggregation play a pivotal role in the d...
Source: Genes and Diseases - February 28, 2019 Category: Genetics & Stem Cells Source Type: research

Role of rno-miR-124-3p in regulating MCT1 expression in rat brain after permanent focal cerebral ischemia
This study aimed to assess the role of microRNAs (miRNAs) in regulating monocarboxylate transporter-1 (MCT1) expression in rat brain after permanent focal cerebral ischemia to identify a new target for early treatment of cerebral ischemia. Focal cerebral ischemia was induced by permanent middle cerebral artery occlusion (pMCAO) in rats. Morphology and protein expression levels of MCT1 were assessed by immunofluorescence and Western blotting. Using bioinformatics and double luciferase reporter assays, rno-miR-124-3p was selected as a direct target for rat MCT1.Expression of rno-miR-124-3p after pMCAO was detected. Then, rat...
Source: Genes and Diseases - February 17, 2019 Category: Genetics & Stem Cells Source Type: research

Matrix metalloproteinase 13, a new target for therapy in Alzheimer’s disease
Publication date: Available online 16 February 2019Source: Genes & DiseasesAuthor(s): Jean-Michel Paumier, Gopal Thinakaran (Source: Genes and Diseases)
Source: Genes and Diseases - February 17, 2019 Category: Genetics & Stem Cells Source Type: research

The Butterfly Effect in Viral Infection: From a Host DNA Single Nucleotide Change to HBV Episome Steadiness
Publication date: Available online 10 February 2019Source: Genes & DiseasesAuthor(s): Elena S. Kim, Haitao Guo (Source: Genes and Diseases)
Source: Genes and Diseases - February 11, 2019 Category: Genetics & Stem Cells Source Type: research

Emerging roles of lncRNAs in the post-transcriptional regulation in cancer
Publication date: Available online 11 February 2019Source: Genes & DiseasesAuthor(s): Rong-Zhang He, Di-Xian Luo, Yin-Yuan MoAbstractAccumulating evidence indicates that long non-coding RNAs (lncRNAs) can play a pivotal role in regulation of diverse cellular processes. In particular, lncRNAs can serve as master gene regulators at transcriptional and posttranscriptional levels, leading to tumorigenesis. In this review, we discuss latest developments in lncRNA-meditated gene expression at the post-transcriptional level, including gene splicing, mRNA stability, protein stability and nuclear trafficking. (Source: Genes and Diseases)
Source: Genes and Diseases - February 11, 2019 Category: Genetics & Stem Cells Source Type: research

The effects of repeated propofol anesthesia on spatial memory and long-term potentiation in infant rats under hypoxic conditions
In this study, 84 seven-day-old Sprague-Dawley rats were randomly assigned into six groups (n=14)-four control groups: lipid emulsion solvent + 50% oxygen (CO), lipid emulsion solvent + room air (CA), lipid emulsion solvent + 18% oxygen (CH), and propofol + 50% oxygen (propofol–oxygen, PO); and two experiment groups: propofol + room air (propofol–air, PA), and propofol + 18% oxygen (propofol–hypoxia, PH). After receiving propofol (50 mg/kg) or the same volume of intralipid intraperitoneal (5.0 ml/kg), injected once per day for seven consecutive days, the rats were exposed to 18% oxygen, 50% oxygen and air...
Source: Genes and Diseases - February 9, 2019 Category: Genetics & Stem Cells Source Type: research

Genetic diagnosis of neonatal-onset seizures
This study aimed at analyzing the genotype-phenotype correlations in neonates with seizures in a bid to improve the understanding of genetic diagnosis of early-onset epilepsy. Clinical features and prognosis of 15 children who underwent genetic testing having had unexplained seizures from February 2016 to May 2018 in Children’s Hospital of Chongqing Medical University were analyzed retrospectively. The salient findings were: poor response to stimulus and abnormal electroencephalogram (EEG) in the initial period were observed in the group with concomitant genetic abnormalities. Despite the recent progress in genetic t...
Source: Genes and Diseases - February 9, 2019 Category: Genetics & Stem Cells Source Type: research

NDRG4 Prevents Cerebral Ischemia/Reperfusion Injury by Inhibiting Neuronal Apoptosis
Publication date: Available online 17 January 2019Source: Genes & DiseasesAuthor(s): Lan Wen, Lei Liu, Linyan Tong, Jinfang Li, Keming Zhang, Qinbin Zhang, Changqing LiAbstractCerebral ischemia is a major cause of mortality and long-term morbidity worldwide. NDRG4 has been shown to protect against cerebral ischemia, although the underlying mechanisms remain largely unclear. Here we found that NDRG4 expression was decreased in the brain tissues of ischemia/reperfusion (IR) rats, indicating increased apoptosis rates among cerebral cells. NDRG4 restoration via an adenovirus significantly attenuated cerebral infarct sizes ...
Source: Genes and Diseases - January 17, 2019 Category: Genetics & Stem Cells Source Type: research

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
Publication date: Available online 7 January 2019Source: Genes & DiseasesAuthor(s): Megan S. Kane, Callie J. Diamonstein, Natalie Hauser, John F. Deeken, John E. Niederhuber, Thierry VilbouxAbstractThe uncharacterized gene KIAA1109 has recently been associated with a congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. We have identified two additional patients with compound heterozygous KIAA1109 variants presenting with the same neurological malformations. The mechanism whereby KIAA1109 loss of function causes this spectrum of disorders wa...
Source: Genes and Diseases - January 7, 2019 Category: Genetics & Stem Cells Source Type: research

Regulation and functions of integrin α2 in cell adhesion and disease
Publication date: Available online 31 December 2018Source: Genes & DiseasesAuthor(s): Valery Adorno-Cruz, Huiping LiuAbstractIntegrins are cell adhesion molecules that are composed of an alpha (α) subunit and a beta (β) subunit with affinity for different extracellular membrane components. The integrin family includes 24 known members that actively regulate cellular growth, differentiation, and apoptosis. Each integrin heterodimer has a particular function in defined contexts as well as some partially overlapping features with other members in the family. As many reviews have covered the general integrin fam...
Source: Genes and Diseases - January 1, 2019 Category: Genetics & Stem Cells Source Type: research

Identification and characterization of the cellular subclones that contribute to the pathogenesis of mantle cell lymphoma
Publication date: Available online 21 December 2018Source: Genes & DiseasesAuthor(s): Junling Tang, Li Zhang, Tiejun Zhou, Zhiwei Sun, Liangsheng Kong, Li Jing, Hongyun Xing, Hongyan Wu, Yongli Liu, Shixia Zhou, Jingyuan Li, Mei Chen, Fang Xu, Jirui Tang, Tao Ma, Min Hu, Dan Liu, Jing Guo, Xiaofeng Zhu, Yan ChenAbstractMantle cell lymphoma (MCL) is a B-cell malignancy with poor clinical outcome and undefined pathogenesis. Development of clinically relevant cellular models for MCL research is an urgent need. Our preliminary observations lead the development of two novel hypotheses that we tested in this study: 1. multic...
Source: Genes and Diseases - December 21, 2018 Category: Genetics & Stem Cells Source Type: research

Forskolin and Phorbol 12-myristate 13-acetate modulates the expression pattern of AP-1 factors and cell cycle regulators in estrogen-responsive MCF-7 cells
Publication date: Available online 11 December 2018Source: Genes & DiseasesAuthor(s): R.L. Babu, M. Naveen Kumar, Rajeshwari H. Patil, K.M. Kiran Kumar, K.S. Devaraju, Govindarajan T. Ramesh, S. Chidananda SharmaAbstractActivator protein-1 (AP-1) transcription factor is a key component of many signal transduction pathways involved in the regulation of cellular processes and controls rapid responses of mammalian cells when exposed to the variety of stimulus. The phorbol 12-myristate 13-acetate and Forskolin (Fo) are well-known kinase activators/stimulators of Protein Kinase C (PKC) and Protein Kinase A (PKA) respectivel...
Source: Genes and Diseases - December 11, 2018 Category: Genetics & Stem Cells Source Type: research

Down-regulation of argininosuccinate lyase induces hepatoma cell apoptosis through activating Bax signaling pathway
In this study, we found that ASL expression was frequently upregulated in HCC tissues and HCC cell lines. Knock down of ASL inhibited cell proliferation and induced apoptosis in HCC cells. Mechanistic studies revealed the BCL2-associated X protein (Bax) signaling pathway which determines cancer cell apoptosis was regulated by ASL. Moreover, the depletion of Bax restored the inhibition of cell growth and reduced apoptosis initiated by ASL silencing. Together, the study demonstrated that ASL regulated HCC cell growth and apoptosis by modulating Bax signaling. Thus, the therapeutic targeting of ASL may offer options for HCC t...
Source: Genes and Diseases - November 29, 2018 Category: Genetics & Stem Cells Source Type: research

Delivering on the promise of gene editing for cystic fibrosis
Publication date: Available online 25 November 2018Source: Genes & DiseasesAuthor(s): Craig A. Hodges, Ronald A. ConlonAbstractIn this review, we describe a path for translation of gene editing into therapy for cystic fibrosis (CF). Cystic fibrosis results from mutations in the CFTR gene, with one allele predominant in patient populations. This simple, genetic etiology makes gene editing appealing for treatment of this disease. There already have been success in applying this approach to cystic fibrosis in cell and animal models, although these advances have been modest in comparison to advances for other disease.Less ...
Source: Genes and Diseases - November 26, 2018 Category: Genetics & Stem Cells Source Type: research

Integrated Transcriptome Interactome study of Oncogenes and Tumor Suppressor Genes in Breast Cancer
Publication date: Available online 20 November 2018Source: Genes & DiseasesAuthor(s): Pranavathiyani G, Raja Rajeswary Thanmalagan, Naorem Leimarembi Devi, Amouda VenkatesanAbstractBreast cancer is the leading cause for mortality among women worldwide. Dysregulation of oncogenes and tumor suppressor genes is the major reason for the cause of cancer. Understanding these genes will provide clues and insights about their regulatory mechanism and their interplay in cancer. In the present study, an attempt is made to compare the functional characteristics and interactions of oncogenes and tumor suppressor genes to understan...
Source: Genes and Diseases - November 21, 2018 Category: Genetics & Stem Cells Source Type: research

Research Highlights from ACACR Members
Publication date: Available online 20 November 2018Source: Genes & DiseasesAuthor(s): Zhenghe John Wang, Dale H. Cowan (Source: Genes and Diseases)
Source: Genes and Diseases - November 21, 2018 Category: Genetics & Stem Cells Source Type: research

SKA2/FAM33A: A Novel Gene Implicated in Cell Cycle, Tumorigenesis, and Psychiatric Disorders
Publication date: Available online 12 November 2018Source: Genes & DiseasesAuthor(s): Mengyu Xie, Youquan BuAbstractSKA2 (spindle and KT associated 2), also referred to as FAM33A (family with sequence similarity 33, member A), is a recently identified gene involved in cell cycle regulation, and growing evidence is implicating its roles in tumorigenesis and psychiatric disorders. It has been demonstrated that SKA2, along with its coworkers SKA1 and SKA3, constitutes the SKA complex which plays a critical role in the maintenance of the metaphase plate and/or spindle checkpoint silencing during mitosis. SKA2 is over-expre...
Source: Genes and Diseases - November 14, 2018 Category: Genetics & Stem Cells Source Type: research

Bioinformatic Identification of Key Genes and Molecular Pathways in the Spermatogenic Process of Cryptorchidism
This study aims to determine key genes and pathways that could play important roles in the spermatogenic process of patients with cryptorchidism. The identification of these molecules and pathways may help in understanding the etiology of cryptorchidism, and thereby reduce the incidence of cryptorchidism-induced azoospermia. The gene expression profile data of GSE25518 was obtained from the Gene Expression Omnibus (GEO) database. Microarray data were analyzed using BRB-Array Tools to identify differentially expressed genes (DEGs) between high azoospermia risk (HAZR) patients and controls. In addition, other analytical meth...
Source: Genes and Diseases - November 14, 2018 Category: Genetics & Stem Cells Source Type: research

2018 Nobel Prize in Medicine Awarded to Cancer Immunotherapy: Immune Checkpoint Blockade – A Personal Account
Publication date: Available online 18 October 2018Source: Genes & DiseasesAuthor(s): Xingxing Zang (Source: Genes and Diseases)
Source: Genes and Diseases - October 20, 2018 Category: Genetics & Stem Cells Source Type: research

Acetylation of H3K4, H3K9, and H3K27 mediated by p300 regulates the expression of GATA4 in cardiocytes
Publication date: Available online 15 October 2018Source: Genes & DiseasesAuthor(s): Wei Zhou, Dagui Jiang, Jie Tian, Lingjuan Liu, Tiewei Lu, Xupei Huang, Huichao SunAbstractGATA4 is a particularly important cardiogenic transcription factor and serves as a potent driver of cardiogenesis. Recent progress in the field has made it clear that histone acetylation can influence gene expression through changing the structure of chromatin. Our previous research had revealed that hypo-acetylation could repress gata4 expression in cardiocytes, however the underlying mechanism by which this occurred was still unclear. To reveal ...
Source: Genes and Diseases - October 16, 2018 Category: Genetics & Stem Cells Source Type: research