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y-family polymerase

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https://www.readbyqxmd.com/read/28333147/solute-carrier-family-12-member-5-promotes-tumor-invasion-metastasis-of-bladder-urothelial-carcinoma-by-enhancing-nf-%C3%AE%C2%BAb-mmp-7-signaling-pathway
#1
J Y Liu, Y B Dai, X Li, K Cao, D Xie, Z T Tong, Z Long, H Xiao, M K Chen, Y L Ye, B Liu, J Tan, J Tang, Z Z Xu, Y Gan, Y H Zhou, F Deng, L Y He
Solute carrier family 12 member 5 (SLC12A5), an integral membrane KCl cotransporter, which maintains chloride homeostasis in neurons, is aberrantly expressed and involved in the tumorigenesis of certain cancers. However, the clinical significance and biological role of SLC12A5 in human bladder urothelial carcinoma (BUC) remains unclear. In this study, the expression of SLC12A5 was examined in clinical specimens of primary BUC and in BUC cell lines using quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR), western blot and immunohistochemistry (IHC)...
March 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28279077/translesion-dna-polymerases-in-eukaryotes-what-makes-them-tick
#2
Alexandra Vaisman, Roger Woodgate
Life as we know it, simply would not exist without DNA replication. All living organisms utilize a complex machinery to duplicate their genomes and the central role in this machinery belongs to replicative DNA polymerases, enzymes that are specifically designed to copy DNA. "Hassle-free" DNA duplication exists only in an ideal world, while in real life, it is constantly threatened by a myriad of diverse challenges. Among the most pressing obstacles that replicative polymerases often cannot overcome by themselves are lesions that distort the structure of DNA...
March 9, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28275244/mosaic-chromosome-y-loss-and-testicular-germ-cell-tumor-risk
#3
Mitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Douglas R Stewart
Studies have suggested mosaic loss of chromosome Y (mLOY) in blood-derived DNA is common in older men. Cohort studies investigating mLOY and mortality have reported contradictory results. Previous work found that a 1.6 Mb deletion of the AZFc region on the Y chromosome (the 'gr/gr' deletion) is associated with both male infertility and increased risk of testicular germ cell tumors (TGCT). We investigated whether mosaic loss across the entire Y chromosome was associated with TGCT. We obtained blood- and buccal-derived DNA from two case-control studies: the NCI Familial Testicular Cancer Study (cases=172; controls=163) and the NCI US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study (cases=506; controls=611)...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28265070/bet-n-terminal-bromodomain-inhibition-selectively-blocks-th17-cell-differentiation-and-ameliorates-colitis-in-mice
#4
Kalung Cheung, Geming Lu, Rajal Sharma, Adam Vincek, Ruihua Zhang, Alexander N Plotnikov, Fan Zhang, Qiang Zhang, Ying Ju, Yuan Hu, Li Zhao, Xinye Han, Jamel Meslamani, Feihong Xu, Anbalagan Jaganathan, Tong Shen, Hongfa Zhu, Elena Rusinova, Lei Zeng, Jiachi Zhou, Jianjun Yang, Liang Peng, Michael Ohlmeyer, Martin J Walsh, David Y Zhang, Huabao Xiong, Ming-Ming Zhou
T-helper 17 (Th17) cells have important functions in adaptor immunity and have also been implicated in inflammatory disorders. The bromodomain and extraterminal domain (BET) family proteins regulate gene transcription during lineage-specific differentiation of naïve CD4(+) T cells to produce mature T-helper cells. Inhibition of acetyl-lysine binding of the BET proteins by pan-BET bromodomain (BrD) inhibitors, such as JQ1, broadly affects differentiation of Th17, Th1, and Th2 cells that have distinct immune functions, thus limiting their therapeutic potential...
March 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28253484/identification-of-fragile-x-pre-mutation-carriers-in-the-chinese-obstetric-population-using-a-robust-fmr1-polymerase-chain-reaction-assay-implications-for-screening-and-prenatal-diagnosis
#5
Y Ky Cheng, C Sw Lin, Y Ky Kwok, Y M Chan, T K Lau, T Y Leung, K W Choy
INTRODUCTION: There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put forward the notion of preconception or prenatal fragile X carrier screening for females. This study aimed to determine the prevalence of fragile X syndrome pre-mutation and asymptomatic full-mutation carriers in a Chinese pregnant population, and the distribution of cytosine-guanine-guanine (CGG) repeat numbers using a robust fragile X mental retardation 1 (FMR1) polymerase chain reaction assay...
March 3, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28228181/characterization-and-functional-analysis-of-serpin-1-like-gene-from-oak-silkworm-antheraea-pernyi
#6
H M Yu, B J Zhu, Y Sun, G Q Wei, L Wang, C Qian, M Nadeem Abbas, C L Liu
Serpins are a broadly distributed family of proteases found in various organisms that play an important role in regulating the immune response. Here, we identified a serpin-1 gene from Antheraea pernyi that encodes a 279 amino acid protein with a molecular weight of 30.8 kDa. We expressed the recombinant Ap-serpin-1 protein in Escherichia coli and used the purified protein to prepare rabbit anti-Ap-serpin-1 polyclonal antibodies. We calculated the enzyme-linked immunosorbent assay titer of the antibody as 1:128000...
February 23, 2017: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/28195147/geosmin-producing-species-of-coelosphaerium-synechococcales-cyanobacteria-in-lake-shinji-japan
#7
T Godo, Y Saki, Y Nojiri, M Tsujitani, S Sugahara, S Hayashi, H Kamiya, S Ohtani, Y Seike
In Lake Shinji, Japan, periodic outbreaks of musty odour have occurred since mid-May 2007. Although the substance responsible for the odour was identified as geosmin, the odour-producing organism was unknown. We cultivated an axenic unialgal strain and determined that a species of Coelosphaerium (Synechococcales) was responsible for the production of geosmin in Lake Shinji. Our analysis was conducted using gas chromatography/mass spectrometry to determine the odorous compound. To determine the algae species, it was observed by optical microscopy to describe its morphological characteristics and the polymerase chain reaction was used to characterise the nucleotide sequence of the 16S rRNA gene and the 16S-23S rRNA internal transcribed spacer region...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28140505/n-2-substituted-2-deoxyguanosine-triphosphate-derivatives-as-selective-substrates-for-human-dna-polymerase-%C3%AE%C2%BA
#8
A S Prakasha Gowda, Marietta Lee, Thomas E Spratt
N(2) -Alkyl-2'-deoxyguanosine triphosphate (N(2) -alkyl-dGTP) derivatives with methyl, butyl, benzyl, or 4-ethynylbenzyl substituents were prepared and tested as substrates for human DNA polymerases. N(2) -Benzyl-dGTP was equal to dGTP as a substrate for DNA polymerase κ (pol κ), but was a poor substrate for pols β, δ, η, ι, or ν. In vivo reactivity was evaluated through incubation of N(2) -4-ethynylbenzyl-dG with wild-type and pol κ deficient mouse embryonic fibroblasts. CuAAC reaction with 5(6)-FAM-azide demonstrated that only cells containing pol κ were able to incorporate N(2) -4-ethynylbenzyl-dG into the nucleus...
March 1, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28104409/gigantol-from-dendrobium-chrysotoxum-lindl-binds-and-inhibits-aldose-reductase-gene-to-exert-its-anti-cataract-activity-an-in-vitro-mechanistic-study
#9
Jie Wu, Xue Li, Wencheng Wan, Qiaohong Yang, Weifeng Ma, Dan Chen, Jiangmiao Hu, C-Y Oliver Chen, Xiaoyong Wei
ETHNOPHARMACOLOGICAL RELEVANCE: Dendrobium. chrysotoxum Lindl is a commonly used species of medicinal Dendrobium which belongs to the family of Orchidaceae, locally known as "Shihu" or "Huangcao". D. chrysotoxum Lindl is widely known for medicinal values in traditional Chinese medicine as it possesses anti-inflammatory, anti-hyperglycemic induction, antitumor and antioxidant properties. STUDY AIM: To characterize the interaction between gigantol extracted from D...
January 16, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#10
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28092942/advances-in-structural-and-single-molecule-methods-for-investigating-dna-lesion-bypass-and-repair-polymerases
#11
Austin T Raper, Andrew J Reed, Varun V Gadkari, Zucai Suo
Innovative advances in X-ray crystallography and single-molecule biophysics have yielded unprecedented insight into the mechanisms of DNA lesion bypass and damage repair. Time-dependent X-ray crystallography has been successfully applied to view the bypass of 8-oxo-7,8-dihydro-2'-deoxyguanine (8-oxoG), a major oxidative DNA lesion, and the incorporation of the triphosphate form, 8-oxo-dGTP, catalyzed by human DNA polymerase β. Significant findings of these studies are highlighted here, and their contributions to the current mechanistic understanding of mutagenic translesion DNA synthesis (TLS) and base excision repair are discussed...
January 17, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28077248/alternative-splicing-at-exon-2-results-in-the-loss-of-the-catalytic-activity-of-mouse-dna-polymerase-iota-in-vitro
#12
Konstantin Y Kazachenko, Nataliya A Miropolskaya, Leonid V Gening, Vyacheslav Z Tarantul, Alena V Makarova
Y-family DNA polymerase iota (Pol ι) possesses both DNA polymerase and dRP lyase activities and was suggested to be involved in DNA translesion synthesis and base excision repair in mammals. The 129 strain of mice and its derivatives have a natural nonsense codon mutation in the second exon of the Pol ι gene resulting in truncation of the Pol ι protein. These mice were widely used as a Pol ι-null model for in vivo studies of the Pol ι function. However whether 129-derived strains of mice are fully deficient in the Pol ι functions was a subject of discussion since Pol ι mRNA undergoes alternative splicing at exon 2...
February 2017: DNA Repair
https://www.readbyqxmd.com/read/28067843/maintenance-of-genome-integrity-how-mammalian-cells-orchestrate-genome-duplication-by-coordinating-replicative-and-specialized-dna-polymerases
#13
REVIEW
Ryan Barnes, Kristin Eckert
Precise duplication of the human genome is challenging due to both its size and sequence complexity. DNA polymerase errors made during replication, repair or recombination are central to creating mutations that drive cancer and aging. Here, we address the regulation of human DNA polymerases, specifically how human cells orchestrate DNA polymerases in the face of stress to complete replication and maintain genome stability. DNA polymerases of the B-family are uniquely adept at accurate genome replication, but there are numerous situations in which one or more additional DNA polymerases are required to complete genome replication...
January 6, 2017: Genes
https://www.readbyqxmd.com/read/28034630/defect-of-fe-s-cluster-binding-by-dna-polymerase-%C3%AE-in-yeast-suppresses-uv-induced-mutagenesis-but-enhances-dna-polymerase-%C3%AE-dependent-spontaneous-mutagenesis
#14
E I Stepchenkova, E R Tarakhovskaya, H M Siebler, Y I Pavlov
Eukaryotic genomes are duplicated by a complex machinery, utilizing high fidelity replicative B-family DNA polymerases (pols) α, δ and ε. Specialized error-prone pol ζ, the fourth B-family member, is recruited when DNA synthesis by the accurate trio is impeded by replication stress or DNA damage. The damage tolerance mechanism dependent on pol ζ prevents DNA/genome instability and cell death at the expense of increased mutation rates. The pol switches occurring during this specialized replication are not fully understood...
December 9, 2016: DNA Repair
https://www.readbyqxmd.com/read/28011627/enhancing-nad-salvage-metabolism-is-neuroprotective-in-a-pink1-model-of-parkinson-s-disease
#15
Susann Lehmann, Samantha H Y Loh, L Miguel Martins
Familial forms of Parkinson's disease (PD) caused by mutations in PINK1 are linked to mitochondrial impairment. Defective mitochondria are also found in Drosophila models of PD with pink1 mutations. The co-enzyme nicotinamide adenine dinucleotide (NAD(+)) is essential for both generating energy in mitochondria and nuclear DNA repair through NAD(+)-consuming poly(ADP-ribose) polymerases (PARPs). We found alterations in NAD(+) salvage metabolism in Drosophila pink1 mutants and showed that a diet supplemented with the NAD(+) precursor nicotinamide rescued mitochondrial defects and protected neurons from degeneration...
February 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28009602/ewsr1-fusions-with-creb-family-transcription-factors-define-a-novel-myxoid-mesenchymal-tumor-with-predilection-for-intracranial-location
#16
Yu-Chien Kao, Yun-Shao Sung, Lei Zhang, Chun-Liang Chen, Sumathi Vaiyapuri, Marc K Rosenblum, Cristina R Antonescu
Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family (ATF1 and CREB1) have been reported in a diverse group of tumors including angiomatoid fibrous histiocytoma (AFH), soft tissue and gastrointestinal clear cell sarcoma, primary pulmonary myxoid sarcoma, and hyalinizing clear cell carcinoma of salivary gland. We have recently encountered a group of 5 myxoid mesenchymal tumors positive for EWSR1 fusions with one of the CREB family member (ATF1, CREB1, and CREM), with histologic features distinct from any of the previously described pathologic entities...
April 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27998428/-mutation-analysis-for-two-hypophosphatasia-families-with-targeted-next-generation-sequencing
#17
Y Bai, N Liu, J Yang, Y Guo, X D Kong
Objective: To detect the mutations in alkaline phosphatase (ALPL) gene of two Chinese families with perinatal hypophosphatasia (HPP), in order to explore the mechanism of this condition. Methods: Next-generation sequencing (NGS) of osteology system panel was carried out for exome sequencing in the mothers of 2 HPP fetuses, who visited Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University. Further polymerase chain reaction (PCR) and Sanger sequencing validation was performed in the parents, affected fetuses and 200 unrelated healthy individuals to verify the mutation sites...
December 13, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27935598/the-gene-polymorphisms-of-il-8-251t-a-and-ip-10-1596c-t-are-associated-with-susceptibility-and-progression-of-type-2-diabetic-retinopathy-in-northern-chinese-population
#18
L Dong, J Bai, X Jiang, M-M Yang, Y Zheng, H Zhang, D Lin
PurposeThe aim of the present study is to investigate the association of the polymorphism of two genes in CXC chemokine family, interleukin-8 (IL-8) and interferon-inducible protein 10 (IP-10), with both susceptibility and progression of DR in T2D population of northern China.Patients and methodsA total of 1043 eligible type 2 diabetic patients from Heilongjiang of northern China were recruited for this study. They were grouped into: with diabetic retinopathy (DR, 528 cases) and without diabetic retinopathy (DNR, 515 cases)...
December 9, 2016: Eye
https://www.readbyqxmd.com/read/27914563/differential-effects-of-testosterone-and-estradiol-on-clitoral-function-an-experimental-study-in-rats
#19
Paolo Comeglio, Ilaria Cellai, Sandra Filippi, Chiara Corno, Francesca Corcetto, Annamaria Morelli, Elena Maneschi, Elisa Maseroli, Edoardo Mannucci, Massimiliano Fambrini, Mario Maggi, Linda Vignozzi
INTRODUCTION: Female sexual response is a complex phenomenon in which psychological, neurologic, and vascular mechanisms and hormonal factors interact. During the arousal phase, they cooperate to increase genital blood flow, thus inducing engorgement of the clitoris and lubrication of the vagina. Regulation of vascular and non-vascular smooth muscle tone is the crucial event in the erectile process. Preclinical studies have suggested that nitric oxide (NO) is the main vasodilator neurotransmitter modulating, through the second messenger cyclic guanosine monophosphate (cGMP), clitoral flow vessels...
December 2016: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/27914036/prolactin-regulatory-element-binding-protein-is-involved-in-suppression-of-the-adiponectin-gene-in-vivo
#20
X Z Zhang, H Imachi, J Y Lyu, K Fukunaga, S Sato, T Ibata, T Kobayashi, T Yoshimoto, F Kikuchi, T Dong, K Murao
PURPOSE: Prolactin regulatory element-binding protein (PREB), a member of the WD-repeat protein family, has been recognized as a transcriptional factor that regulates prolactin promoter activity in the anterior pituitary of rats. PREB is expressed not only in the pituitary but also in various other tissues, including the adipose tissue. Previous studies have shown that PREB acts as a transcriptional regulator and suppresses the expression of the adiponectin gene in cultured 3T3L1 preadipocytes...
December 2, 2016: Journal of Endocrinological Investigation
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