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https://www.readbyqxmd.com/read/28735727/investigation-of-the-role-of-dna-methylation-in-the-expression-of-erbb2-in-human-myocardium
#1
Adolfo Quiñones-Lombraña, Rachael Hageman Blair, Javier G Blanco
The ERBB2 gene encodes a transmembrane tyrosine kinase receptor that belongs to the epidermal growth factor receptor (EGFR) family. ERBB2 plays a pivotal role during heart development and is essential for normal cardiac function, particularly during episodes of cardiac stress. The monoclonal antibody drug trastuzumab is used for the therapy of breast cancers that overexpress ERBB2. The clinical use of trastuzumab is limited by the development of cardiotoxicity in some patients. Inter-individual differences in the expression of ERBB2 in cardiac tissue may impact the risk of cardiotoxicity...
July 20, 2017: Gene
https://www.readbyqxmd.com/read/28735726/molecular-adaptive-convergence-in-the-%C3%AE-globin-in-subterranean-octodontid-rodents
#2
Ivanna H Tomasco, Nicolás Boullosa, Federico G Hoffmann, Enrique P Lessa
Tuco-tucos (Ctenomys) and related coruros (Spalacopus) are South American subterranean rodents. An energetically demanding lifestyle within the hypoxic/hypercapnic underground atmosphere may change the selective regime on genes involved in O2 transport in blood. In addition, some species of tuco-tucos may be found at high altitude, thus facing additional reductions in changes O2 availabily. We examined sequence variation in the alpha globin subunit gene of hemoglobine in these lineages, within a robust phylogenetic context...
July 20, 2017: Gene
https://www.readbyqxmd.com/read/28736154/retinoic-acid-induces-differentiation-of-buffalo-bubalus-bubalis-embryonic-stem-cells-into-germ-cells
#3
Syed Mohmad Shah, Suresh Kumar Singla, Prabhat Palta, Radhey Sham Manik, Manmohan Singh Chauhan
Development of precise and reproducible culture system for in vitro differentiation of embryonic stem (ES) cells into germ cells counts as a major leap forward for understanding not only the remarkable process of gametogenesis, otherwise obscured by limited availability of precursor primordial germ cells (PGCs), but in finally treating the catastrophic infertility. Taking into account the significant role of retinoic acid (RA) during in vivo gametogenesis, we designed the present study to investigate the effects of its stimulation on directing the differentiation of ES cells into germ cells...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28734896/porcine-cd14-gene-silencing-partially-inhibited-the-bacterial-immune-response-mediated-by-tlr4-signaling-pathway
#4
Chaohui Dai, Haifei Wang, Guoqiang Zhu, Shenglong Wu, Wenbin Bao
Cluster of differentiation antigen 14 (CD14) is the membrane receptor protein in Toll-like Receptor 4 (TLR4) signaling pathway, which plays an important regulation role in not only innate immune response but also adaptive immune response. In this study, the pig kidney epithelial cell (PK15) line with CD14 gene silencing mediated by lentivirus was established and cells of CD14-RNAi and NC group were exposed to three kinds of Escherichia coli (E. coli F18ab, E. coli F18ac and E. coli K88ac) and LPS. Then qPCR and western blot were used to detect expression levels of TLR4 signaling pathway-related genes...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#5
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28734894/glce-rs3865014-val597ile-polymorphism-is-associated-with-breast-cancer-susceptibility-and-triple-negative-breast-cancer-in-siberian-population
#6
Valentina A Belyavskaya, Tatiana Y Prudnikova, Natalya V Domanitskaya, Nikolay V Litviakov, Vladimir N Maksimov, Nadezhda V Cherdyntseva, Elvira V Grigorieva
d-Glucuronyl C5-epimerase (GLCE) is one of key enzymes in heparan sulfate biosynthesis and possesses tumour-suppressor function in breast carcinogenesis. Here, we investigated a potential involvement of GLCE polymorphism(s) in breast cancer development in Siberian women population. Comprehensive analysis of SNP databases revealed GLCE rs3865014 (Val597Ile) missense polymorphism as the main significantly present in human populations. According the TaqMan-based SNP assay, allele distributions for the rs3865014 (A>G) were similar in healthy Siberian women (n=136) and cancer patients (n=129) (A0,73:G0,27) and intermediate between the European and Asian populations, while genotype distributions were different, with the increase of AG rate in breast cancer patients (OR=1...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28734893/genetic-polymorphisms-in-cyp2a6-are-associated-with-a-risk-of-cigarette-smoking-and-predispose-to-smoking-at-younger-ages
#7
Gloria Pérez-Rubio, Luis Alberto López-Flores, Alejandra Ramírez-Venegas, Valeri Noé-Díaz, Leonor García-Gómez, Enrique Ambrocio-Ortiz, Candelaria Sánchez-Romero, Rafael De Jesús Hernández-Zenteno, Raúl Humberto Sansores, Ramcés Falfán-Valencia
Nicotine is the main component of cigarettes that causes addiction, which is considered a complex disease, and genetic factors have been proposed to be involved in the development of addiction. The CYP2A6 gene encodes the main enzyme responsible for nicotine metabolism. Depending on the study population, different genetic variants of CYP2A6 associated with cigarette smoking have been described. Therefore, we evaluated the possible association between SNPs in CYP2A6 with cigarette smoking and nicotine addiction-related variables in Mexican mestizo smokers...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28734892/correlation-between-rna-seq-and-microarrays-results-using-tcga-data
#8
Li Chen, Fenghao Sun, Xiaodong Yang, Yulin Jin, Mengkun Shi, Lin Wang, Yu Shi, Cheng Zhan, Qun Wang
RNA sequencing (RNA-Seq) and microarray are two of the most commonly used high-throughput technologies for transcriptome profiling; however, they both have their own inherent strengths and limitations. This research aims to analyze the correlation between microarrays and RNA-Seq detection of transcripts in the same tissue sample to explore the reproducibility between the techniques. Using data of RNA-Seq v2 and three different microarrays provided by The Cancer Genome Atlas, 11,120 genes of 111 lung squamous cell carcinoma samples were simultaneously detected by the four methods...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28732738/association-of-microrna-125a-and-microrna-499a-polymorphisms-in-chronic-periodontitis-in-a-sample-south-indian-population-a-hospital-based-genetic-association-study
#9
Priyanka Venugopal, Vamsi Lavu, Suresh Ranga Rao, Vettriselvi Venkatesan
Periodontitis is a chronic inflammatory disease, caused by interaction between periodontopathic bacteria and the host immune response. MicroRNAs are small, single-stranded molecules, which play a key role in the regulation of diverse biological processes. Dysregulation of microRNAs function can lead to several diseases such as autoimmune and chronic inflammatory diseases. The objective of the study was to determine the association between selected single nucleotide polymorphisms in miR-125a, miR-499 and LIN28 homology A with chronic periodontitis susceptibility in a sample population from south India...
July 18, 2017: Gene
https://www.readbyqxmd.com/read/28732737/microrna-181a-and-its-target-smad-7-as-potential-biomarkers-for-tracking-child-acute-lymphoblastic-leukemia
#10
Marwa Nabhan, Manal L Louka, Eman Khairy, Fathy Tash, Randa Ali-Labib, Safinaz El-Habashy
Acute lymphoblastic leukemia (ALL) is the most common pediatric hematologic tumor. MiR-181a was expected to have a role in the development of hematological malignancies; it might act as tumor suppressor or oncogene. Smad7 was selected as miR-181a target pair. It is a negative regulator for the TGF-β1 signaling pathway. In this study, relative expression levels of miR-181a by quantitative reverse transcriptase polymerase chain reaction (qRT-PCR), both Smad 7 and TGF β1 proteins levels by enzyme linked immunosorbent assay (ELISA) were all measured in serum of 60 child, 30 with ALL and 30 age and sex matched healthy child as control group...
July 18, 2017: Gene
https://www.readbyqxmd.com/read/28728979/ploc-mvirus-predict-subcellular-localization-of-multi-location-virus-proteins-via-incorporating-the-optimal-go-information-into-general-pseaac
#11
Xiang Cheng, Xuan Xiao, Kuo-Chen Chou
Knowledge of subcellular locations of proteins is crucially important for in-depth understanding their functions in a cell. With the explosive growth of protein sequences generated in the postgenomic age, it is highly demanded to develop computational tools for timely annotating their subcellular locations based on the sequence information alone. The current study is focused on virus proteins. Although considerable efforts have been made in this regard, the problem is far from being solved yet. Most existing methods can be used to deal with single-location proteins only...
July 17, 2017: Gene
https://www.readbyqxmd.com/read/28720533/phylogenetic-relationships-of-diurnal-phytotelm-breeding-melanophryniscus-anura-bufonidae-based-on-mitogenomic-data
#12
Marcio R Pie, Patrícia R Ströher, Ricardo Belmonte-Lopes, Marcos R Bornschein, Luiz F Ribeiro, Brant C Faircloth, John E McCormack
Melanophryniscus is a bufonid frog genus with a broad geographic distribution over southeastern South America. In recent years, several new species of Melanophryniscus have been discovered in southern Brazil showing a distinctive life-history strategy for the genus - breeding in phytotelmata - as well as a strong association with high-altitude regions. In this study, we use mitogenomic data to infer the phylogenetic relationships among diurnal, phytotelm-breeding Melanophryniscus and to determine the timing of their divergence...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28720532/lipoid-proteinosis-a-clinical-and-molecular-study-in-egyptian-patients
#13
Hanan H Afifi, Khalda S Amr, Angie M S Tosson, Tarak A Hassan, Mennat I Mehrez, Ghada Y El-Kamah
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28720531/molecular-cloning-and-characterization-of-the-genes-encoding-the-proteins-of-zika-virus
#14
Wangheng Hou, Ruth Cruz-Cosme, Najealicka Armstrong, Lilian Akello Obwolo, Fayuan Wen, Wenhui Hu, Min-Hua Luo, Qiyi Tang
Zika virus (ZIKV) encodes a precursor protein (also called polyprotein) of about 3424 amino acids that is processed by proteases to generate 10 mature proteins and a small peptide. In the present study, we characterized the chemical features, suborganelle distribution and potential function of each protein using Flag-tagged protein expression system. Western blot analysis revealed the molecular weight of the proteins and the polymerization of E, NS1, and NS3 proteins. In addition, we performed multi-labeled fluorescent immunocytochemistry and subcellular fractionation to determine the subcellular localization of these proteins in host cells...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28716711/epigenetic-silencing-of-mirna-143-regulates-apoptosis-by-targeting-bcl2-in-human-intervertebral-disc-degeneration
#15
Kangcheng Zhao, Yukun Zhang, Kang Liang, Yu Song, Kun Wang, Shuai Li, Xinghuo Wu, Wenbin Hua, Zengwu Shao, Shuhua Yang, Cao Yang
Accumulating evidence indicates that microRNAs can regulate the apoptosis of various cells. Apoptosis of nucleus pulposus cells plays an important role in the progression of intervertebral disc degeneration. The aim of this study is to investigate whether microRNA-143 (miRNA-143) is involved in the progression of intervertebral disc degeneration. In this study, the expression of miRNA-143 and its biological modulatory effects were examined. Messenger RNA and protein expression of miRNA-143 and B-cell lymphoma-2 (BCL2) in both normal and degenerative disc tissues was determined by using RT-PCR and western-blot assays...
July 14, 2017: Gene
https://www.readbyqxmd.com/read/28716710/microrna-143-acts-as-a-suppressor-of-hemangioma-growth-by-targeting-bcl-2
#16
Chongqing Huang, JingYong Huang, Pengyan Ma, Guanfeng Yu
Infantile hemangioma is the most common vascular tumor affecting infants, which is associated with clonal expansion of endothelial cells. The aim of this study is to determine the role of microRNA (miR)-143 in the growth and survival of hemangioma-derived endothelial cells (HemECs). We examined the expression of miR-143 in patients with proliferating-phase (n=10) and involuting-phase (n=8) hemangiomas. The effects of ectopic expression of miR-143 on the viability, proliferation, cell cycle distribution, and apoptosis of HemECs were explored...
July 14, 2017: Gene
https://www.readbyqxmd.com/read/28716709/isolation-and-characterization-of-the-5-flanking-region-of-the-human-pdxk-gene
#17
ShuoHao Huang, ZhengQing Liu, ZhenQiao Ma, JianYun Zhang, LongQuan Huang
Pyridoxal kinase is a key enzyme for the biosynthesis of pyridoxal 5'-phosphate. Pyridoxal 5'-phosphate is the catalytically active form of vitamin B6, and acts as a cofactor in >140 different enzyme reactions. It is still unknown how the kinase synthesis is regulated in the cells, and nothing has been reported about the gene promoter. In the present study, based on the bioinformatics analysis of the 5'-flanking region of the human PDXK gene, we cloned the promoter region by PCR. Through the construction of a series of luciferase expression vectors containing the human PDXK promoter region, we characterized the promoter in terms of its structure and function...
July 14, 2017: Gene
https://www.readbyqxmd.com/read/28716708/functional-characteristics-of-a-novel-smad4-mutation-from-thoracic-aortic-aneurysms-taa
#18
Lifei Wu
SMAD4 is as an essential mediator of the transforming growth factor β (TGF-β) signaling pathway, and dysregulated TGF-β signaling is linked with thoracic aortic aneurysms (TAAs). In this study, we functionally characterized the Smad4 S271N mutation (the mutation c. 812G>A in Smad4 results in the amino acid substitution Ser271Asn) that was isolated from TAA individuals. We first constructed wild-type human Smad4 and Smad4 S271N plasmids. These constructs were then transiently transfected into HEK293T cells, and subsequent real-time PCR and western blotting demonstrated that wild-type Smad4 and Smad4 S271N were successfully expressed in 293T cells...
July 14, 2017: Gene
https://www.readbyqxmd.com/read/28712775/simple-sequence-repeats-showing-length-preference-have-regulatory-functions-in-humans
#19
Jaya Krishnan, Fathima Athar, Tirupaati Swaroopa Rani, Rakesh Kumar Mishra
Simple sequence repeats (SSRs), simple tandem repeats (STRs) or microsatellites are short tandem repeats of 1-6 nucleotide motifs. They are twice as abundant as the protein coding DNA in the human genome and yet little is known about their functional relevance. Analysis of genomes across various taxa show that despite the instability associated with longer stretches of repeats, few SSRs with specific longer repeat lengths are enriched in the genomes indicating a positive selection. This conserved feature of length dependent enrichment hints at not only sequence but also length dependent functionality for SSRs...
July 13, 2017: Gene
https://www.readbyqxmd.com/read/28712774/characterization-of-nphs2-gene-polymorphisms-associated-to-steroid-resistance-nephrotic-syndrome-in-indian-children
#20
Bhoomi B Joshi, Kinnari N Mistry, Sishir Gang, Prakash G Koringa, Chaitanya G Joshi
Nephrotic syndrome (NS) is the common glomerular disease in children. These children are treated with steroids, depending upon their behavior. They are either steroid sensitive (SSNS) or steroid resistant (SRNS). NPHS2 gene mutants are linked to the risk of autosomal recessive SRNS and in some cases to SSNS. The present study has been performed to screen single nucleotide polymorphisms (SNPs) of the NPHS2 gene in a group of 90 Indian children suffering with NS (30 SSNS, 30 SRNS and 30 Controls) by PCR method followed by direct exon sequencing...
July 13, 2017: Gene
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