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https://www.readbyqxmd.com/read/28690993/2q37-deletion-syndrome-confirmed-by-high-resolution-cytogenetic-analysis
#1
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28683825/diabetic-retinopathy-is-associated-with-diastolic-dysfunction-in-type-2-diabetic-patients-with-non-ischemic-dilated-cardiomyopathy
#2
Yoo-Ri Chung, Se-Jun Park, Ka Young Moon, Seoyoung Annie Choi, Hong-Seok Lim, Sung Wook Park, Jeong Hun Kim, Kihwang Lee
BACKGROUND: To investigate the association between diabetic retinopathy (DR) and myocardial dysfunction in patients with type 2 diabetes and dilated cardiomyopathy (dCMP). METHODS: Data were collected retrospectively from 89 patients with dCMP (46 with type 2 diabetes and 43 without diabetes) and no evidence of coronary artery disease. Echocardiographic parameters and laboratory data, including lipid profiles and fundus findings, were obtained from medical records...
July 6, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28682600/time-dependent-extension-from-an-8-oxoguanine-lesion-by-human-dna-polymerase-beta
#3
Andrew J Reed, Zucai Suo
The oxidative DNA lesion 7,8-dihydro-2'-deoxyguanine (8-oxoG) often occurs in double-stranded DNA and poses a threat to genomic integrity due to the ability of 8-oxoG to form stable Watson-Crick base pairs with deoxycytidine (8-oxoG:dC) and Hoogsteen base pairs with deoxyadenosine (8-oxoG:dA). In humans, short-patch base excision repair of 8-oxoG:dA base pairs requires human DNA polymerase β (hPolβ) to bypass 8-oxoG. Previously, we have shown hPolβ-catalyzed 8-oxoG bypass to exhibit low fidelity and identified a unique stacking interaction between the newly incorporated nucleotide (dCMP or dAMP) and the templating 8-oxoG...
July 6, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28650656/cytotoxic-and-mutagenic-properties-of-c3-epimeric-lesions-of-2-deoxyribonucleosides-in-escherichia-coli-cells
#4
Pengcheng Wang, Nicholas J Amato, Yinsheng Wang
Reactive oxygen species (ROS), resulting from endogenous metabolism and/or environmental exposure, can induce damage to the 2-deoxyribose moiety in DNA. Specifically, a hydrogen atom from each of the five carbon atoms in 2-deoxyribose can be abstracted by hydroxyl radical, and improper chemical repair of the ensuing radicals formed at the C1', C3', and C4' positions can lead to the stereochemical inversion at these sites to yield epimeric 2-deoxyribose lesions. Although ROS-induced single-nucleobase lesions have been well studied, the biological consequences of the C3'-epimeric lesions of 2'-deoxynucleosides, i...
July 10, 2017: Biochemistry
https://www.readbyqxmd.com/read/28465969/study-of-vitamin-d-status-in-patients-with-dilated-cardiomyopathy-at-a-teaching-hospital-in-north-india
#5
S Priya, Zeba Siddiqi, Ritu Karoli, Jalees Fatima, Saumya Gupta, Ritu Mishra
BACKGROUND/INTRODUCTION: Recent studies have indicated a much broader role to Vitamin D than simply the regulation of calcium metabolism alone. Vitamin D likely confers physiologically relevant pleiotropic functions that include cardioprotective and immunomodulatory effect, and its deficiency could lead to increased risk of cardiovascular disease and heart failure. AIM: The aim of our work was to evaluate the presence of hypovitaminosis D in patients with dilated cardiomyopathy (DCMP) and to study any correlation of echocardiographic parameters with Vitamin D deficiency...
July 2016: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/28459633/identification-of-human-ump-cmp-kinase-1-as-doxorubicin-binding-target-using-protein-microarray
#6
Shuxian Chen, Xu Wang, Xianghui Ye, Donghui Ma, Caiwei Chen, Junlong Cai, Yongfeng Fu, Xunjia Cheng, Yun Chen, Xiaohai Gong, Jian Jin
Doxorubicin (DOX) is a leading anthracycline drug with exceptional efficacy; however, little is known about the molecular mechanisms of its side effects, which include heart muscle damage, noncancerous cell death, and drug resistance. A total of 17,950 human proteins expressed in HEK293 cells were screened and yielded 14 hits. Competitive and binding experiments further verified the binding of DOX to UMP/CMP kinase 1 (CMPK1), and microscale thermophoresis showed that DOX binds to CMPK1 with a Kd of 1216 nM...
April 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28416670/alterations-in-cellular-metabolism-triggered-by-ura7-or-gln3-inactivation-cause-imbalanced-dntp-pools-and-increased-mutagenesis
#7
Tobias T Schmidt, Gloria Reyes, Kerstin Gries, Cemile Ümran Ceylan, Sushma Sharma, Matthias Meurer, Michael Knop, Andrei Chabes, Hans Hombauer
Eukaryotic DNA replication fidelity relies on the concerted action of DNA polymerase nucleotide selectivity, proofreading activity, and DNA mismatch repair (MMR). Nucleotide selectivity and proofreading are affected by the balance and concentration of deoxyribonucleotide (dNTP) pools, which are strictly regulated by ribonucleotide reductase (RNR). Mutations preventing DNA polymerase proofreading activity or MMR function cause mutator phenotypes and consequently increased cancer susceptibility. To identify genes not previously linked to high-fidelity DNA replication, we conducted a genome-wide screen in Saccharomyces cerevisiae using DNA polymerase active-site mutants as a "sensitized mutator background...
May 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28388097/replicative-bypass-studies-of-%C3%AE-anomeric-lesions-of-2-deoxyribonucleosides-in-vitro
#8
Nicole L Williams, Nicholas J Amato, Yinsheng Wang
Genomic integrity is constantly challenged by a variety of endogenous and exogenous DNA damaging agents, which can lead to the formation of 10(4)-10(5) DNA lesions per cell per day. Reactive oxygen species (ROS) represent a major type of DNA damaging agent. Specifically, a hydroxyl radical can attack the C1' position of 2-deoxyribose, and the ensuing carbon-centered radical, if improperly repaired, can cause the inversion of stereochemical configuration at the C1' to give α-anomeric lesions. In this study, we assessed the replicative bypass of α-dA, α-dT, α-dC, and α-dG in template DNA by conducting primer extension assays with the use of purified translesion synthesis DNA polymerases...
May 15, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28370519/cytosine-cytosine-base-pair-mismatch-and-chirality-in-nucleotide-supramolecular-coordination-complexes
#9
Qi-Ming Qiu, Pei Zhou, Leilei Gu, Liang Hao, Minghua Liu, Hui Li
The base-pair sequences are the foundation for the biological processes of DNA or RNA, and base-pair mismatch is very important to reveal genetic diseases and DNA rearrangements. However, the lack of well-defined structural information about base-pair mismatch is obstructing the investigation of this issue. The challenge is to crystallize the materials containing the base-pair mismatch. Engineering the small-molecule mimics or model is an effective strategy to solve this issue. Here, six cytidine-5'-monophosphate (CMP) and 2'-deoxycytidine-5'-monophosphate (dCMP) coordination polymers were reported containing cytosine-cytosine base-pair mismatch (i-motif), and their single-crystal structures and chiralities were studied...
March 31, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28318037/deoxycytidine-and-deoxythymidine-treatment-for-thymidine-kinase-2-deficiency
#10
Carlos Lopez-Gomez, Rebecca J Levy, Maria J Sanchez-Quintero, Martí Juanola-Falgarona, Emanuele Barca, Beatriz Garcia-Diaz, Saba Tadesse, Caterina Garone, Michio Hirano
OBJECTIVE: Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene, TK2, cause TK2 deficiency, which manifests predominantly in children as myopathy with mtDNA depletion. Molecular bypass therapy with the TK2 products, deoxycytidine monophosphate (dCMP) and deoxythymidine monophosphate (dTMP), prolongs the life span of Tk2-deficient (Tk2(-/-) ) mice by 2- to 3-fold...
May 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28290905/-therapy-of-high-risk-patients-after-decompensation-of-heart-failure-under-nt-probnp-control-main-results
#11
A A Skvortsov, D E Koshkina, O Yu Narusov, V N Protasov, V P Masenko, S N Tereshchenko
AIM: to compare efficacy of treatment of high risk patients after acute decompensation (AD) of chronic heart failure (CHF) based on monitoring of NT-proBNP concentration and standard treatment. MATERIAL AND METHODS: Patients (n=100) with class III-IV CHF and left ventricular ejection fraction (LV EF) <40% due to ischemic heart disease (IHD), dilated cardiomyopathy (DCMP), or arterial hypertension (AH) after compensation of HF before discharge were distributed into groups of low (NT-proBNP <1400 picog/ml, n=30) or high (NT-proBNP more or equal 1400 picog/ml, n=70) risk...
July 2016: Kardiologiia
https://www.readbyqxmd.com/read/28290856/-chronic-heart-failure-with-preserved-systolic-function-and-reversible-dilatation-of-cardiac-chambers
#12
O V Blagova, S V Volkov, A V Nedostup, A O Korobkov, I V Mostovoy, N G Sergushina, N V Gagarina, E A Mershina
Diagnosis of dilation (D) cardiomyopathy (CMP) requires exclusion not only of inflammatory and genetically determined forms but also of some rare diseases. This 51 year old patient with history of moderate arterial hypertension approached a cardiologist because of new onset atrial fibrillation and dyspnea. Echocardiography detected dilation of all cardiac chambers with relatively preserved ejection fraction, causing suspicion of DCMP. Among conditions excluded were coronary atherosclerosis, congenital heart defect with left to right shunt, primary pulmonary hypertension, pulmonary embolism, hypertensive heart, tachycardia induced CMP, arrhythmogenic right ventricular dysplasia, noncompaction myocardium...
June 2016: Kardiologiia
https://www.readbyqxmd.com/read/28271879/formation-and-determination-of-endogenous-methylated-nucleotides-in-mammals-by-chemical-labeling-coupled-with-mass-spectrometry-analysis
#13
Huan Zeng, Chu-Bo Qi, Ting Liu, Hua-Ming Xiao, Qing-Yun Cheng, Han-Peng Jiang, Bi-Feng Yuan, Yu-Qi Feng
5-Methylcytosine (5-mC) is an important epigenetic mark that plays critical roles in a variety of cellular processes. To properly exert physiological functions, the distribution of 5-mC needs to be tightly controlled in both DNA and RNA. In addition to methyltransferase-mediated DNA and RNA methylation, premethylated nucleotides can be potentially incorporated into DNA and RNA during replication and transcription. To exclude the premodified nucleotides into DNA and RNA, endogenous 5-methyl-2'-deoxycytidine monophosphate (5-Me-dCMP) generated from nucleic acids metabolism can be enzymatically deaminated to thymidine monophosphate (TMP)...
March 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28202452/entire-plastid-phylogeny-of-the-carrot-genus-daucus-apiaceae-concordance-with-nuclear-data-and-mitochondrial-and-nuclear-dna-insertions-to-the-plastid
#14
David M Spooner, Holly Ruess, Massimo Iorizzo, Douglas Senalik, Philipp Simon
PREMISE OF THE STUDY: We explored the phylogenetic utility of entire plastid DNA sequences in Daucus and compared the results with prior phylogenetic results using plastid and nuclear DNA sequences. METHODS: We used Illumina sequencing to obtain full plastid sequences of 37 accessions of 20 Daucus taxa and outgroups, analyzed the data with phylogenetic methods, and examined evidence for mitochondrial DNA transfer to the plastid (DcMP). KEY RESULTS: Our phylogenetic trees of the entire data set were highly resolved, with 100% bootstrap support for most of the external and many of the internal clades, except for the clade of D...
February 15, 2017: American Journal of Botany
https://www.readbyqxmd.com/read/28198522/cardiovascular-drug-utilization-post-implant-is-related-to-clinical-outcome-in-heart-failure-patients-receiving-cardiac-resynchronization-therapy
#15
Zoltan Bakos, Christian Reitan, Anna Werther-Evaldsson, Anders Roijer, Pyotr PLatonov, Rasmus Borgquist
BACKGROUND: In select patients with heart failure, cardiac resynchronization therapy (CRT) is the most common complementary treatment besides medical treatment. We aimed to assess the association between post CRT-implant changes in cardiovascular medication and cardiovascular mortality and heart failure hospitalization. METHODS: 211 patients on optimal medical therapy eligible for CRT were retrospectively included in this study (72 ± 7 years, 80% male, 66% left bundle branch block [LBBB], 48% dilated cardiomyopathy [DCMP]) and investigated at baseline and after 6 months ...
February 15, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28150748/efficient-n-tailing-of-blunt-dna-ends-by-moloney-murine-leukemia-virus-reverse-transcriptase
#16
Yoshiyuki Ohtsubo, Yuji Nagata, Masataka Tsuda
Moloney murine leukemia virus reverse transcriptase (MMLV-RT) is a widely used enzyme for cDNA synthesis. Here we show that MMLV-RT has a strong template-independent polymerase activity using blunt DNA ends as substrate that generates 3' overhangs of A, C, G, or T. Nucleotides were appended efficiently in the order A > G > T > C, and tail lengths varied from 4 to 5, 2 to 7, 2 to 4, and 2 to 3 for A, C, G, and T, respectively. The activity was so strong that nearly all our test DNA ends were appended with at least one A, C, G, or T...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070248/childhood-cardiomyopathies-a-study-in-tertiary-care-hospital-in-upper-egypt
#17
Mohamed Abd Elaal Bakeet, Montaser Mohamed Mohamed, Ahmed Ahmed Allam, Rania Gamal
INTRODUCTION: Cardiomyopathy (CMP) is defined by the World Health Organization (WHO) as a disease of the myocardium associated with cardiac dysfunction. An understanding of CMP is very important, as it is a common cause of heart failure in children, and the most common indication for heart transplantation in children older than one year, but data on CMP in Egypt are scarce. The aim of this study was to determine the number, risk factors, clinical presentation, complications and outcome of different types of childhood cardiomyopathies in Sohag University Hospital...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/28000775/structural-basis-of-the-substrate-preference-towards-cmp-for-a-thymidylate-synthase-mila-involved-in-mildiomycin-biosynthesis
#18
Gong Zhao, Cheng Chen, Wei Xiong, Tuling Gao, Zixin Deng, Geng Wu, Xinyi He
Modified pyrimidine monophosphates such as methyl dCMP (mdCMP), hydroxymethyl dUMP (hmdUMP) and hmdCMP in some phages are synthesized by a large group of enzymes termed as thymidylate synthases (TS). Thymidylate is a nucleotide required for DNA synthesis and thus TS is an important drug target. In the biosynthetic pathway of the nucleoside fungicide mildiomycin isolated from Streptomyces rimofaciens ZJU5119, a cytidylate (CMP) hydroxymethylase, MilA, catalyzes the conversion of CMP into 5'-hydroxymethyl CMP (hmCMP) with an efficiency (kcat/KM) of 5-fold faster than for deoxycytidylate (dCMP)...
December 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905387/-dilated-cardiomyopathy-as-a-cause-of-ischemic-stroke
#19
S G Zhdanova, S S Petrikov, G R Ramazanov, L T Khamidova, I S Aliev, Z O Sarkisyan
Dilated cardiomyopathy (DCMP) is a disease of the myocardium characterized by the dilatation of heart cavities with the development of systolic dysfunction but without a decrease in the thickness of the myocardium. DCMP is a frequent cause of cardioembolic syndrome, in particular cardioembolic ischemic stroke (CES). A case of a patient with DCMP after CES is presented.
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27820863/pyrimidine-salvage-enzymes-are-essential-for-de-novo-biosynthesis-of-deoxypyrimidine-nucleotides-in-trypanosoma-brucei
#20
Christopher Leija, Filipa Rijo-Ferreira, Lisa N Kinch, Nick V Grishin, Nicole Nischan, Jennifer J Kohler, Zeping Hu, Margaret A Phillips
The human pathogenic parasite Trypanosoma brucei possess both de novo and salvage routes for the biosynthesis of pyrimidine nucleotides. Consequently, they do not require salvageable pyrimidines for growth. Thymidine kinase (TK) catalyzes the formation of dTMP and dUMP and is one of several salvage enzymes that appear redundant to the de novo pathway. Surprisingly, we show through analysis of TK conditional null and RNAi cells that TK is essential for growth and for infectivity in a mouse model, and that a catalytically active enzyme is required for its function...
November 2016: PLoS Pathogens
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