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 19, 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

Do specific ultrasonography features identified at the time of early pregnancy loss predict fetal chromosomal abnormality? – a systematic review and meta-analysis
Publication date: Available online 13 October 2018Source: Genes & DiseasesAuthor(s): J. Huang, W. Zhu, J. Tang, S.H. Saravelos, L.C.Y. Poon, T.C. LiAbstractTo investigate the association of specific ultrasonography features identified during the diagnosis of early pregnancy loss (EPL) and abnormal karyotype. This was a systematic review and meta-analysis conducted in accordance with PRISMA criteria. We searched PubMed, Cochrane and Ovid MEDLINE from 1977 to Jan 2017 to identify the articles that described EPL with karyotype and ultrasonography features. Risk differences were pooled to estimate the chromosomal abnormali...
Source: Genes and Diseases - October 14, 2018 Category: Genetics & Stem Cells Source Type: research

Organoid models of gastrointestinal Neoplasms: Origin, current status and future applications in personalized medicine
Publication date: Available online 24 September 2018Source: Genes & DiseasesAuthor(s): Yi Pan, Shuliang Zhao, Zhijun CaoAbstractThe in vitro organoid model is a major technological breakthrough that has been established as an important tool in many basic biological and clinical applications. This near-physiological 3D culture system accurately models various biological processes, including tissue renewal, stem cell/niche functions and tissue responses to drugs, mutations or damage. Organoids have the potential value of being an accurate model for disease predictions or drug screening applications and to identify t...
Source: Genes and Diseases - October 12, 2018 Category: Genetics & Stem Cells Source Type: research

Structural investigation of Rett-inducing MeCP2 mutations
Publication date: Available online 5 October 2018Source: Genes & DiseasesAuthor(s): Ottavia Spiga, Simone Gardini, Nicole Rossi, Vittoria Cicaloni, Francesco Pettini, Neri Niccolai, Annalisa SantucciAbstractX-ray structure of methyl-CpG binding domain (MBD) of MeCP2, an intrinsically disordered protein (IDP) involved in Rett syndrome, offers a rational basis for defining the spatial distribution for most of the sites where mutations responsible of Rett syndrome, RTT, occur. We have ascribed pathogenicity for mutations of amino acids bearing positively charged side chains, all located at the protein-DNA interface, as po...
Source: Genes and Diseases - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

Organoid Models of Gastrointestinal Neoplasms:Origin, Current status and future applications in personalized medicine
Publication date: Available online 24 September 2018Source: Genes & DiseasesAuthor(s): Yi Pan, Shuliang Zhao, Zhijun CaoAbstractThe in vitro organoid model is a major technological breakthrough that has been established as an important tool in many basic biological and clinical applications. This near-physiological 3D culture system accurately models various biological processes, including tissue renewal, stem cell/niche functions and tissue responses to drugs, mutations or damage. Organoids have the potential value of being an accurate model for disease predictions or drug screening applications and to identify the id...
Source: Genes and Diseases - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

A Critical Role of the Thioredoxin Domain Containing Protein 5 (TXNDC5) in Redox Homeostasis and Cancer Development
Publication date: Available online 28 September 2018Source: Genes & DiseasesAuthor(s): Hedy A. Chawsheen, Qi Ying, Hong Jiang, Qiou WeiAbstractCorrect folding of nascent peptides occurs in the endoplasmic reticulum (ER). It is a complicate process primarily accomplished by the coordination of multiple redox proteins including members of the protein disulfide isomerase (PDI) family. As a critical member of the PDI family, thioredoxin domain containing protein 5 (TXNDC5) assists the folding of newly synthesized peptides to their mature form through series of disulfide bond exchange reactions. Interestingly, TXNDC5 is fre...
Source: Genes and Diseases - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy
Publication date: Available online 2 October 2018Source: Genes & DiseasesAuthor(s): Reza Ebrahimzadeh-Vesal, Atieh Teymoori, Ali Mohammad Dourandish, Mohsen Azimi-NezhadAbstractMyofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders. Several pathogenic mutations have been reported in MFM-related genes including DES, CRYAB, MYOT, LDB3 or ZASP, FLNC, BAG3, FHL1 and DNAJB6. Although MFMs is commonly inherited in an autosomal dominant manner, the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases. Here, we report discovery of a novel nonsense mutat...
Source: Genes and Diseases - October 5, 2018 Category: Genetics & Stem Cells Source Type: research

AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data
Publication date: Available online 8 September 2018Source: Genes & DiseasesAuthor(s): Taobo Hu, Si Chen, Ata Ullah, Hong XueAbstractThe usage of next generation sequencing (NGS) to detect copy number variation (CNV) is widely accepted in cancer research. Based on an AluScanCNV software developed by us previously, an AluScanCNV2 software has been developed in the present study as an R package that performs CNV detection from NGS data obtained through AluScan, whole-genome sequencing or other targeted NGS platforms. Its applications would include the expedited usage of somatic CNVs for cancer subtyping, and usage of recu...
Source: Genes and Diseases - September 10, 2018 Category: Genetics & Stem Cells Source Type: research

Maternal Vitamin D level and Vitamin D receptor gene polymorphism as a risk factor for Congenital Heart Diseases in off spring; An Egyptian case-control study
Publication date: Available online 26 August 2018Source: Genes & DiseasesAuthor(s): Wesam A. Mokhtar, Amal Fawzy, Reem M. Allam, Rania M. Amer, Mona S. HamedAbstractVitamin D & vitamin D receptor (VDR) signaling play a very crucial role in early embryonic heart development. We construct this case-control study to investigate the association between maternal serum vitamin D level & VDR gene Fok1 polymorphism and risk of congenital heart defects (CHD) in offspring. Fifty mothers who had term neonates with CHD were considered as cases. Fifty age-comparable healthy mothers who had neonates without CHD were contempl...
Source: Genes and Diseases - August 27, 2018 Category: Genetics & Stem Cells Source Type: research

Joining the force: ACACR teams up with Genes & Diseases
Publication date: Available online 3 August 2018Source: Genes & DiseasesAuthor(s): Fei Li (Source: Genes and Diseases)
Source: Genes and Diseases - August 3, 2018 Category: Genetics & Stem Cells Source Type: research

The methylenetetrahydrofolate reductase genotype 677CT and non-alcoholic fatty liver disease have a synergistic effect on the increasing homocysteine levels in subjects from Chongqing, China
Publication date: Available online 29 July 2018Source: Genes & DiseasesAuthor(s): Xiaolin Wang, Yongli Zhou, Mingjun Zhang, Yonghong Wang, Bo QinAbstractThe methylenetetrahydrofolate reductase (MTHFR) genotypes 677CT and 677TT are associated with elevated serum homocysteine (Hcy) levels by means of lowering the activity of MTHFR, and the increase in serum Hcy may be linked to increased susceptibility to non-alcoholic fatty liver disease (NAFLD). However, there are contradictory reports of the relationship among the MTHFR 677CT gene polymorphism, Hcy, and NAFLD. Therefore, the aim of this study was to identify potential...
Source: Genes and Diseases - July 29, 2018 Category: Genetics & Stem Cells Source Type: research

Natural products targeting the p53-MDM2 pathway and mutant p53: Recent advances and implications in cancer medicine
Publication date: Available online 20 July 2018Source: Genes & DiseasesAuthor(s): Jiang-Jiang Qin, Xin Li, Courtney Hunt, Wei Wang, Hui Wang, Ruiwen ZhangAbstractThe 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 ...
Source: Genes and Diseases - July 20, 2018 Category: Genetics & Stem Cells Source Type: research

Inflammation and intestinal leakiness in older HIV+ individuals with fish oil treatment
Publication date: Available online 11 July 2018Source: Genes & DiseasesAuthor(s): Yong-Guo Zhang, Yinglin Xia, Rong Lu, Jun SunAbstractFish 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. How...
Source: Genes and Diseases - July 11, 2018 Category: Genetics & Stem Cells Source Type: research

Cytotoxic T lymphocyte antigen-4 gene polymorphisms and susceptibility to type 1 autoimmune hepatitis in the Tunisian population
Publication date: Available online 30 December 2017Source: Genes & DiseasesAuthor(s): Marwa Chaouali, Agostinho Carvalho, Aymen Tezeghdenti, Mouna Ben Azaiez, Cristina Cunha, Ezzeddine Ghazouani, Radhia KochkarAbstractGenetic 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 polymor...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Neonatal overfeeding in mice aggravates the development of methionine and choline-deficient diet-induced steatohepatitis in adulthood
Publication date: Available online 5 January 2018Source: Genes & DiseasesAuthor(s): Juan Du, Xuemei Cao, Junlin Diao, Qijuan Zhang, Chuan Peng, Jibin Li, Xiaoqiu XiaoAbstractOverfeeding in early life is associated with obesity and insulin resistance in adulthood. In the present study, a well-characterized mouse model was used to investigate whether neonatal overfeeding increases susceptibility to the development of non-alcoholic steatohepatitis (NASH) following feeding with a methionine and choline- deficient (MCD) diet. Neonatal overfeeding was induced by adjusting litters to 3 pups per dam (small litter size, SL) in ...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Targeted metabolomics of sulfated bile acids in urine for the diagnosis and grading of intrahepatic cholestasis of pregnancy
Publication date: Available online 31 January 2018Source: Genes & DiseasesAuthor(s): Yuchao Li, Xiaoqing Zhang, Jianbo Chen, Chengya Feng, Yifan He, Yong Shao, Min DingAbstractIntrahepatic cholestasis of pregnancy (ICP) is related to cholestatic disorder in pregnancy. Total urinary sulfated bile acids (SBAs) were found increased in ICP. We distinguished the metabolic profiling of urinary SBAs in ICP to find potential biomarkers for the diagnosis and grading of ICP. The targeted metabolomics based on high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) was used to analyze urinary SBAs profiling i...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Factors that contribute to poor adherence to statin therapy in coronary heart disease patients from Chongqing and measures to improve their therapeutic outcomes
Publication date: Available online 13 February 2018Source: Genes & DiseasesAuthor(s): Guiquan Yu, Yingjiao Zhang, Ying Wang, Guanglei Chang, Hongmei Tao, Dongying ZhangAbstractTo assess the efficacy and short-term outcomes of adherence to statin therapy among coronary heart disease (CHD) patients following their hospital discharge, we enrolled 615 CHD patients who were prescribed statins from The First Affiliated Hospital of Chongqing Medical University in China between February 1st and October 31st of 2013. Statin adherence was evaluated by identifying the proportion of patients who remained adherent or became non-adh...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Anti-endothelial cell antibody rich sera from rheumatic heart disease patients induces proinflammatory phenotype and methylation alteration in endothelial cells
Publication date: Available online 13 February 2018Source: Genes & DiseasesAuthor(s): Mukul Rastogi, Subendu Sarkar, Ankita Makol, Rana Sandip Singh, Uma Nahar Saikia, Dibyajyoti Banerjee, Seema Chopra, Anuradha ChakrabortiAbstractRheumatic 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 (HUVEC...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Recent advances in extracellular vesicles enriched with non-coding RNAs related to cancers
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Song Yang, Xi LiAbstractAs membrane-bound structures that could be shedded by a parental cell, and fuse with others after shedding, and then release its contents, extracellular vesicles (EVs) are considered as an indispensable part of intercellular communication system. The EV contents might be all kinds of bioactive molecules including non-coding RNAs (ncRNAs), a large and complex group of RNAs with various subtypes that function to regulate biological events but classically do not code for proteins. In this review we covered the recentl...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

InfiniumPurify: An R package for estimating and accounting for tumor purity in cancer methylation research
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Yufang Qin, Hao Feng, Ming Chen, Hao Wu, Xiaoqi ZhengAbstractThe proposition of cancer cells in a tumor sample, named as tumor purity, is an intrinsic factor of tumor samples and has potentially great influence in variety of analyses including differential methylation, subclonal deconvolution and subtype clustering. InfiniumPurify is an integrated R package for estimating and accounting for tumor purity based on DNA methylation Infinium 450 k array data. InfiniumPurify has three main functions getPurity, InfiniumDMC and InfiniumClust...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Unique cytologic features of thyroiditis caused by immune checkpoint inhibitor therapy for malignant melanoma
We present a case of immunotherapy-induced thyroiditis demonstrating its unique cytopathologic features. A 51-year-old woman with metastatic melanoma was found to have a suppressed TSH and elevated free thyroxine concentration 14 days after starting treatment with nivolumab (PD-1 antagonist) plus ipilimumab (CTLA-4 antagonist) therapy. A thyroid biopsy was performed based on ultrasound findings and cytopathology revealed unique features including abundant clusters of necrotic cells, lymphocytes and CD163-positive histiocytes. This case reports cytopathologic features found in immune checkpoint inhibitor related thyroiditis...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

SOX4 contributes to TGF-β-induced epithelial–mesenchymal transition and stem cell characteristics of gastric cancer cells
We report herein that SOX4 was upregulated and overexpression of SOX4 was associated with increased expression of the markers of Epithelial–mesenchymal transition (EMT) and stemness in clinic patient samples. In vitro, overexpression of SOX4 promoted the invasion as showed by Transwell assay and stemness of GC cells as assessed by sphere formation assay, which was suppressed by silencing SOX4 with shRNA. Further studies showed that SOX4 up-regulated the expression of EMT transcription factors Twist1, snail1 and zeb1 and stemness transcription factors SOX2 and OCT4, and promoted the nuclear translocation of &beta...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The development of a sensitive fluorescent protein-based transcript reporter for high throughput screening of negative modulators of lncRNAs
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Zongyue Zeng, Bo Huang, Shifeng Huang, Ruyi Zhang, Shujuan Yan, Xinyi Yu, Yi Shu, Chen Zhao, Jiayan Lei, Wenwen Zhang, Chao Yang, Ke Wu, Ying Wu, Liping An, Xiaojuan Ji, Cheng Gong, Chengfu Yuan, Linghuan Zhang, Wei Liu, Yixiao FengAbstractWhile the human genome is pervasively transcribed,
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

DNA methylation in human diseases
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Zelin Jin, Yun LiuAbstractEven though the importance of epigenetics was first recognized in light of its role in tissue development, an increasing amount of evidence has shown that it also plays an important role in the development and progression of many common diseases. We discuss some recent findings on one representative epigenetic modification, DNA methylation, in some common diseases. While many new risk factors have been identified through the population-based epigenetic epidemiologic studies on the role of epigenetics in common di...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Role of genetic and environmental factors in DNA methylation of lipid metabolism
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Zhen He, Rong Zhang, Feng Jiang, Wenjing Hou, Cheng HuAbstractA number of recent studies revealed that DNA methylation plays a central role in the regulation of lipid metabolism. DNA methylation modifications are important regulators of transcriptional networks that do not affect the DNA sequence and can translate genetic variants and environmental factors into phenotypic traits. Therefore, elucidating the factors that underlie inter-individual DNA methylation variations gives us an opportunity to predict diseases and interfere with the e...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The novel roles of circular RNAs in metabolic organs
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Zhi-Chun Zhang, Xiao-Long Guo, Xi LiAbstractCircular RNAs (circRNAs) with a covalently closed loop structure which was different with linear RNAs, recently re-merged as novel regulator and exerted function in multiple biological processes. Through deep RNA sequencing (RNA-seq) technology coupled with bioinformatic analyses, a number of circRNAs has been identified. Moreover, circRNAs exhibit tissue- and development-specific expression indicating their potential biological significance. Actually, function of circRNAs as miRNA sponge has be...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Benefits of skin-to-skin contact during the neonatal period: Governed by epigenetic mechanisms?
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Malin AlmgrenAbstractThe perinatal period experiences are important for later life physiology. Prematurely born babies have been shown to benefit from close contact with their mothers, and evidence suggests that epigenetic mechanisms are involved in these early imprints. This mini review is summarizing current praxis and discusses the need for more and larger studies. (Source: Genes and Diseases)
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Pan-cancer analysis of long non-coding RNA NEAT1 in various cancers
Publication date: March 2018Source: Genes & Diseases, Volume 5, Issue 1Author(s): Shufen Li, Jingming Li, Chen Chen, Rongsheng Zhang, Kankan WangAbstractChanges in the abundance and activity of long non-coding RNAs (lncRNAs) have an important impact on the development of cancer. The nuclear paraspeckle assembly transcript 1 (NEAT1) has been reported to be overexpressed in many types of cancer since its discovery. However, inconsistencies exist as NEAT1 can also function as a tumor suppressor in certain types of cancer, such as acute promyelocytic leukemia. Here we systematically describe our current understanding of NE...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Bioinformatic identification of key genes and pathways that may be involved in the pathogenesis of HBV-associated acute liver failure
Publication date: Available online 2 March 2018Source: Genes & DiseasesAuthor(s): Yalan Yang, Zhaohui Zhong, Yubin Ding, Wanfeng Zhang, Yang Ma, Li ZhouAbstractIn order to explore the molecular mechanisms behind the pathogenesis of acute liver failure (ALF) associated with hepatitis B virus (HBV) infection, the present study aimed to identify potential key genes and pathways involved using samples from patients with HBV-associated ALF. The GSE38941 array dataset was downloaded from the Gene Expression Omnibus database, and differentially expressed genes (DEGs) between 10 liver samples from 10 healthy donors and 17 live...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia
Publication date: Available online 7 March 2018Source: Genes & DiseasesAuthor(s): Jun Chen, Wenbing Zhang, Jinzhou He, Run Zhang, Yinqiang Cao, Xing LiuAbstractPseudoachondroplasia (PSACH) is a relatively common skeletal dysplasia characterized by disproportionate short stature, joint laxity, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. It is known as an autosomal dominant disease which results exclusively from mutations in the gene for Cartilage Oligomeric Matrix Protein (COMP). We have identified a five year old Chinese boy who was diagnosed as pseudoachondroplasia according to c...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of DNA damage profile in obese women and its association to risk of metabolic syndrome, polycystic ovary syndrome and recurrent preeclampsia
Publication date: Available online 10 March 2018Source: Genes & DiseasesAuthor(s): Moushira Zaki, Walaa Basha, Hala T. El-Bassyouni, Safinaz El-Toukhy, Tamer HusseinAbstractMetabolic syndrome (MS) is a cluster of metabolic abnormalities. Obesity and MS are always accompanied by elevated oxidative stress which might affect cellular bio-molecules such as DNA. The aim of the present study is to investigate DNA damage profile in obese premenopausal women and its relation to the risk of MS, polycystic ovary syndrome (PCOS) and history of recurrent pre-eclampsia. The study included 90 obese women included cases with MS (n&nb...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

An EGLN1 mutation may regulate hypoxic response in cyanotic congenital heart disease through the PHD2/HIF-1A pathway
Publication date: Available online 13 March 2018Source: Genes & DiseasesAuthor(s): Yuanlin Zhou, Na Ouyang, Lingjuan Liu, Jie Tian, Xupei Huang, Tiewei LuAbstractCyanotic congenital heart disease (CCHD), a term describing the most severe congenital heart diseases are characterized by the anatomic malformation of a right to left shunt. Although the incidence of CCHD are far less than the that of congenital heart diseases (CHD), patients with CCHD always present severe clinical features such as hypoxia, dyspnea, and heart failure. Chronic hypoxia induces hypoxemia that significantly contributes to poor prognosis in CCHD....
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The effect of NR4A1 on APP metabolism and tau phosphorylation
Publication date: Available online 22 April 2018Source: Genes & DiseasesAuthor(s): Li-Ge Zhao, Ying Tang, Jia-Ze Tan, Jing-Wen Wang, Guo-Jun Chen, Bing-Lin ZhuAbstractAlzheimer's disease (AD) is characterized by senile plaques (SP) composed of β-amyloid protein (Aβ) and neurofibrillary tangles (NFTs) composed of intracellular hyperphosphorylated tau. Recently, nuclear receptor subfamily 4 group A member 1 (NR4A1) was implicated in synaptic plasticity, long-term memory formation, suggesting that it may play a role in the pathophysiology of AD. Here, we showed that the expression of NR4A1 was significantly incr...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The metabolic role of LncZBTB39-1:2 in the trophoblast mobility of preeclampsia
In this study, we found that the expression of LncZBTB39-1:2 was significantly higher in preeclamptic placentae than in healthy placentae. Our metabolomics results have shown that tricarboxylic acid cycle intermediates and metabolites related to carbohydrate metabolism were decreased with the overexpression of LncZBTB39-1:2 in HTR8/SVneo cells. These findings were validated by detecting a lower level of intracellular ATP in HTR8/Vneo cells. Furthermore, the migration of HTR8/SVneo cells was compromised when cells were transfected with a plasmid encompassing LncZBTB39-1:2 overexpression. From these results, we conclude that...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

BRF1 ameliorates LPS-induced inflammation through autophagy crosstalking with MAPK/ERK signaling
Publication date: Available online 27 April 2018Source: Genes & DiseasesAuthor(s): Weiwei Xie, Wei Zheng, Min Liu, Qizhong Qin, Yunpeng Zhao, Zhi Cheng, Fengjin GuoAbstractInflammation 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...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Immunogenic effects of chemotherapy-induced tumor cell death
Publication date: Available online 17 May 2018Source: Genes & DiseasesAuthor(s): Yi-Jun Wang, Rochelle Fletcher, Jian Yu, Lin ZhangAbstractEmerging 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 b...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

AMF siRNA treatment of keloid through inhibition signaling pathway of RhoA/ROCK1
Publication date: Available online 18 May 2018Source: Genes & DiseasesAuthor(s): Yi Tian, Lan Jin, Wenhong Zhang, Zumeng Ya, Yuan Cheng, Hongyun ZhaoAbstractA keloid (KD) is a benign dermal fibrotic tumor. Treatment of KDs is challenging and the recurrence rate is high; thus, there is an unmet need to explore new target sites and new treatment methods. As a tumor-associated cytokine, autocrine motility factor (AMF) can effectively stimulate the random and directional movement of cells. We first found that AMF was overexpressed in keloid fibroblasts (KFs) and the proliferation and migration of KFs were promoted by AMF s...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The correlation between insulin and OCT-6 transcription factor in Schwann cells and sciatic nerve of diabetic rats
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): Mallahalli S. Manu, Kuruvanthe S. Rachana, Gopal M. AdviraoAbstractInsulin 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 tr...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Establishment and functional characterization of the reversibly immortalized mouse glomerular podocytes (imPODs)
In this study, we establish a user-friendly and reversibly-immortalized mouse podocyte line (designated as imPOD), on the basis of the tsPC cells by stably expressing the wildtype SV40 T-antigen, which is flanked with FRT sites. We show the imPOD cells exhibit long-term high proliferative activity, which can be effectively reversed by FLP recombinase. The imPOD cells express most podocyte-related markers, including WT-1, Nephrin, Tubulin and Vinculin, but not differentiation marker Synaptopodin. The imPOD cells do not form tumor-like masses in vivo. We further demonstrate that TGFβ1 induces a podocyte injury-like...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Obesity phenotype in relation to gene polymorphism among samples of Egyptian children and their mothers
This study concluded that the LEPR Gln223Arg, UCP2 G 866 A and INSR exon 17 polymorphisms are related to obesity in Egyptian population. Further researches on larger population are recommended to ascertain the implications of LEPR, UCP2 and INSR polymorphisms in obesity. (Source: Genes and Diseases)
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Silencing of PRR11 suppresses cell proliferation and induces autophagy in NSCLC cells
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): Lian Zhang, Yunlong Lei, Ying Zhang, Yi Li, Youquan Bu, Fangzhou Song, Chundong ZhangAbstractOur 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 siRN...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The potential value of CDV3 in the prognosis evaluation in Hepatocellular carcinoma
In conclusion, CDV3 is a biomarker of HCC and could be a potential therapeutic target. (Source: Genes and Diseases)
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Potential association of long noncoding RNA HA117 with tetralogy of Fallot
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): Quan Wang, Zhili Wang, Chun Wu, Zhengxia Pan, Li Xiang, Hang Liu, Xin Jin, Kerong Tong, Shulei Fan, Xianqing JinAbstractTetralogy 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 ...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Characterization of the essential role of bone morphogenetic protein 9 (BMP9) in osteogenic differentiation of mesenchymal stem cells (MSCs) through RNA interference
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): 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. LeeAbstractMesenchymal 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 m...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Clonal hematopoiesis of indeterminate potential (CHIP): A potential contributor to atherlosclerotic cardio/cerebro-vascular diseases?
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): Fei Li, Xiaojing Wu, Qi Zhou, Dennis Weixi ZhuAbstractAt least 10% of the elderly population above the age of 70 carry a condition termed clonal hematopoiesis indeterminate potential (CHIP) due to oligoclonal expansion of mutated hematopoietic stem cells. Although CHIP is known to predispose patients to a higher risk of malignant blood disorders, the recent revelation of its association with higher morbidity and mortality of atherosclerotic cardiovascular disease and ischemic stroke is rather surprising. Two independent research groups pub...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): Yixiao Feng, Mia Spezia, Shifeng Huang, Chengfu Yuan, Zongyue Zeng, Linghuan Zhang, Xiaojuan Ji, Wei Liu, Bo Huang, Wenping Luo, Bo Liu, Yan Lei, Scott Du, Akhila Vuppalapati, Hue H. Luu, Rex C. Haydon, Tong-Chuan He, Guosheng RenAbstractAs the most commonly occurring cancer in women worldwide, breast cancer poses a formidable public health challenge on a global scale. Breast cancer consists of a group of biologically and molecularly heterogeneous diseases originated from the breast. While the risk factors associated with this cancer varie...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The importance of preventative medicine in conjunction with modern day genetic studies
Publication date: June 2018Source: Genes & Diseases, Volume 5, Issue 2Author(s): Sierra Sandler, Lauren Alfino, Mir SaleemAbstractGenetic screening in the primary care setting is the future of preventative medicine. Genetic testing is an important medical tool for assessing various inheritable diseases, conditions, and cancers. The ability to diagnose patients before symptoms surface can help lessen the severity of symptoms and promote quality of life. However, genetic screening can cause psychological distress from the knowledge of test results, in some cases only serving to increase the risk of developing a condition...
Source: Genes and Diseases - July 10, 2018 Category: Genetics & Stem Cells Source Type: research