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https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#1
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28645481/subcellular-localization-of-glycolytic-enzymes-and-characterization-of-intermediary-metabolism-of-trypanosoma-rangeli
#2
Rocío Rondón-Mercado, Héctor Acosta, Ana J Cáceres, Wilfredo Quiñones, Juan Luis Concepción
Trypanosoma rangeli is a hemoflagellate protist that infects wild and domestic mammals as well as humans in Central and South America. Although this parasite is not pathogenic for human, it is being studied because it shares with Trypanosoma cruzi, the etiological agent of Chagas' disease, biological characteristics, geographic distribution, vectors and vertebrate hosts. Several metabolic studies have been performed with T. cruzi epimastigotes, however little is known about the metabolism of T. rangeli. In this work we present the subcellular distribution of the T...
June 20, 2017: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/28644142/acyp2-polymorphisms-are-associated-with-the-risk-of-liver-cancer-in-a-han-chinese-population
#3
Zhong Chen, Yu Sun, Zhenxiong Xu, Junnv Xu, Jingjie Li, Mengdan Yan, Jing Li, Tianbo Jin, Haifeng Lin
We explored the association between single nucleotide polymorphisms (SNPs) in ACYP2 and liver cancer risk. Thirteen SNPs were genotyped in 473 cases and 564 controls. Genetic model, linkage disequilibrium, and haplotype analyses were performed to evaluate the association between ACPY2 SNPs and liver cancer risk. We found that rs6713088 (G allele: odds ratio [OR] = 1.27, 95% confidence interval [CI]: 1.07-1.52, P = 0.007; GG vs. CC: OR = 1.49, 95% CI: 1.02-2.1, P = 0.038), rs843711 (T allele: OR = 1.29, 95% CI: 1...
June 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#4
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643248/computational-prediction-of-crispr-cas9-target-sites-reveals-potential-off-target-risks-in-human-and-mouse
#5
Qingbo Wang, Kumiko Ui-Tei
The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated (Cas) system is a prominent genome engineering technology. In the CRISPR/Cas system, the RNA-guided endonuclease Cas protein introduces a DNA double-stranded break at the genome position recognized by a guide RNA (gRNA) based on complementary base-pairing of about 20-nucleotides in length. The 8- or 12-mer gRNA sequence in the proximal region is especially important for target recognition, and the genes with sequence complementarity to such regions are often disrupted...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28641921/genome-wide-association-and-interaction-studies-of-csf-t-tau-a%C3%AE-42-ratio-in-adni-cohort
#6
Jin Li, Qiushi Zhang, Feng Chen, Xianglian Meng, Wenjie Liu, Dandan Chen, Jingwen Yan, Sungeun Kim, Lei Wang, Weixing Feng, Andrew J Saykin, Hong Liang, Li Shen
The pathogenic relevance in Alzheimer's disease (AD) presents a decrease of cerebrospinal fluid amyloid-ß42 (Aß42) burden and an increase in cerebrospinal fluid total tau (T-tau) levels. In this work, we performed genome-wide association study (GWAS) and genome-wide interaction study of T-tau/Aß42 ratio as an AD imaging quantitative trait on 843 subjects and 563,980 single-nucleotide polymorphisms (SNPs) in ADNI cohort. We aim to identify not only SNPs with significant main effects but also SNPs with interaction effects to help explain "missing heritability"...
May 15, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28640939/global-transcriptome-and-co-expression-network-analyses-reveal-cultivar-specific-molecular-signatures-associated-with-seed-development-and-seed-size-weight-determination-in-chickpea
#7
Rohini Garg, Vikash K Singh, Mohan Singh Rajkumar, Vinay Kumar, Mukesh Jain
Seed development is an intricate process regulated via a complex transcriptional regulatory network. To understand the molecular mechanisms governing seed development and seed size/weight in chickpea, we performed a comprehensive analysis of transcriptome dynamics during seed development in two cultivars with contrasting seed size/weight (small seeded, Himchana 1 and large-seeded, JGK 3). Our analysis identified stage-specific expression for a significant proportion (>13%) of the genes. About one-fourth of total genes exhibited significant differential expression in JGK 3 as compared to Himchana 1...
June 22, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28640826/allele-specific-caps-marker-development-and-characterization-of-chalcone-synthase-gene-in-indian-mulberry-morus-spp-family-moraceae
#8
Vivek Arora, M K Ghosh, Soumili Pal, Gaurab Gangopadhyay
Chalcone synthase (CHS) is an essential enzyme in the phenylpropanoid pathway that catalyzes the first step in flavonoid biosynthesis in plants under diverse environmental stress. We have used CHS as a candidate gene in mulberry and developed Single Nucleotide Polymorphism (SNP) based co-dominant Cleaved Amplified Polymorphic Sequence (CAPS) marker associated with the CHS locus. The segregation pattern of the marker was studied in an F1 population derived from a hybridization program between two mulberry genotypes showing polymorphism for the CHS locus...
2017: PloS One
https://www.readbyqxmd.com/read/28640392/calcineurin-inhibitors-exacerbate-coronary-arteritis-via-the-myd88-signaling-pathway-in-a-murine-model-of-kawasaki-disease
#9
Kenji Murata, Yoshitomo Motomura, Tamami Tanaka, Shunsuke Kanno, Takahisa Yano, Mitsuho Onimaru, Atsushi Shimoyama, Hisanori Nishio, Yasunari Sakai, Masatsugu Oh-Hora, Hiromitsu Hara, Koichi Fukase, Hidetoshi Takada, Satohiro Masuda, Shouichi Ohga, Sho Yamasaki, Toshiro Hara
Calcineurin inhibitors (CNIs) have been used off-label for the treatment of refractory Kawasaki disease (KD). However, it remains unknown whether CNIs show protective effects against the development of coronary artery lesions in KD patients. To investigate the effects of CNIs on coronary arteries and the mechanisms of their actions on coronary arteritis in a mouse model of KD, we performed experiments with FK565, a ligand of nucleotide-binding oligomerization domain-containing protein 1 (Nod1) in wild-type, SCID, CARD9(-/-) , and MyD88(-/-) mice...
June 22, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28640144/is-there-an-association-between-ifn-%C3%AE-874a-t-polymorphism-and-periodontitis-susceptibility-a-meta-analysis
#10
Quan Shi, Chuan Cai, Juan Xu, Jinglong Liu, Hongchen Liu, Na Huo
BACKGROUND: Interferon-γ (IFN-γ) is a key proinflammatory cytokine which plays a critical role in the pathogenesis and progression of periodontitis. The single nucleotide polymorphism of +874A/T in human IFN-γ gene can influence the secretion of IFN-γ and affect periodontitis susceptibility. However, the findings of published studies are inconsistent. Therefore, the goal of this meta-analysis is to investigate whether there is an association between IFN-γ +874A/T polymorphism and periodontitis susceptibility...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28640093/correlations-of-single-nucleotide-polymorphisms-of-cryaa-and-cryab-genes-with-the-risk-and-clinicopathological-features-of-children-suffering-from-congenital-cataract
#11
Xian-Jin Cui, Feng-Yan Lv, Feng-Hua Li, Kun Zeng
BACKGROUND: The study aims to explore the correlations of the single nucleotide polymorphisms (SNPs) of CRYAA and CRYAB with the risk and clinicopathological features of children with congenital cataract. METHODS: The study enrolled 168 children diagnosed as congenital cataract (case group) and 172 normal children (control group) from May 2015 to May 2016. Genomic DNA extraction was performed using a QIAamp DNA blood mini kit. Polymerase chain reaction (PCR) products were genotyped using an ABI direct sequencer...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639930/bradyrhizobium-mercantei-sp-nov-a-nitrogen-fixing-symbiont-isolated-from-nodules-of-deguelia-costata-syn-lonchocarpus-costatus
#12
Luisa Caroline Ferraz Helene, Jakeline Renata Marçon Delamuta, Renan Augusto Ribeiro, Mariangela Hungria
Some bacteria collectively known as rhizobia can establish symbiotic relationships and the N2-fixation process with several legumes used as green manure, in pastures and for wood production. Symbionts belonging to the genus Bradyrhizobium are predominant in the tropics, and an increasing number of studies report high genetic diversity within the genus. We performed a polyphasic study with two strains belonging to the genus Bradyrhizobium- SEMIA 6399T and SEMIA 6404-isolated from root nodules of Deguelia costata (syn...
June 22, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28639176/combined-or-individual-effects-of-dietary-probiotic-pedicoccus-acidilactici-and-nucleotide-on-growth-performance-intestinal-microbiota-hemato-biochemical-parameters-and-innate-immune-response-in-goldfish-carassius-auratus
#13
Nooshin Mehdinejad, Mohammad Reza Imanpour, Valiollah Jafari
This study investigated the effect of dietary supplementation of probiotic Pedicoccus acidilactici and nucleotide (separately or combined) on growth performance, intestinal microbiota, hemato-immunological parameters, and immunity response in goldfish (Carassius auratus). Fish (average weight 5-6 g) were acclimatized and divided into eight experimental diets supplemented with P. acidilactici of different concentrations (0.1, 0.2, and 0.3% diet) and nucleotides (0 and 0.5% diet) for 6 months. Fish fed with experimental diets showed significant differences in terms of final weight, weight gain, feed conversion ratio, daily growth rate, and condition factor when compared to control diet (P < 0...
June 21, 2017: Probiotics and Antimicrobial Proteins
https://www.readbyqxmd.com/read/28639054/a-strong-relationship-between-oral-squamous-cell-carcinoma-and-dna-repair-genes
#14
Hakan Avci, Arzu Ergen, Elif Sinem Bireller, Baris Ertugrul, Bedia Cakmakoglu
Single nucleotide polymorphisms of DNA repair genes alter protein function and modulate DNA repair efficiency in various cancers. The X-ray repair cross-complementing group (XRCC) is responsible for the repair of DNA base damage and single-strand breaks. The aim of our study was to investigate the association of XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms with the susceptibility to develop oral squamous cell carcinoma (OSCC) in Turkish subjects. One hundred eleven patients with OSCC and 148 healthy controls were recruited for the study...
June 21, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28638988/same-day-genomic-and-epigenomic-diagnosis-of-brain-tumors-using-real-time-nanopore-sequencing
#15
Philipp Euskirchen, Franck Bielle, Karim Labreche, Wigard P Kloosterman, Shai Rosenberg, Mailys Daniau, Charlotte Schmitt, Julien Masliah-Planchon, Franck Bourdeaut, Caroline Dehais, Yannick Marie, Jean-Yves Delattre, Ahmed Idbaih
Molecular classification of cancer has entered clinical routine to inform diagnosis, prognosis, and treatment decisions. At the same time, new tumor entities have been identified that cannot be defined histologically. For central nervous system tumors, the current World Health Organization classification explicitly demands molecular testing, e.g., for 1p/19q-codeletion or IDH mutations, to make an integrated histomolecular diagnosis. However, a plethora of sophisticated technologies is currently needed to assess different genomic and epigenomic alterations and turnaround times are in the range of weeks, which makes standardized and widespread implementation difficult and hinders timely decision making...
June 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28638311/a-variant-in-runx3-is-associated-with-the-risk-of-ankylosing-spondylitis-in-koreans
#16
Sung-Min Cho, Seung-Hyun Jung, Yeun-Jun Chung
Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution of non-MHC genes to the susceptibility to AS. Most of these non-MHC genes have been discovered in non-Asian populations; however, just some of them have been validated in Koreans. In this study, we aimed to identify additional AS-associated single-nucleotide polymorphism (SNP) candidates by replicating the candidate SNPs in Korean AS patients and healthy controls...
June 2017: Genomics & Informatics
https://www.readbyqxmd.com/read/28638221/prevalence-of-ifnl3-rs4803217-single-nucleotide-polymorphism-and-clinical-course-of-chronic-hepatitis-c
#17
Bogna Świątek-Kościelna, Ewelina Kałużna, Ewa Strauss, Jerzy Nowak, Iwona Bereszyńska, Ewelina Gowin, Jacek Wysocki, Jolanta Rembowska, Dominika Barcińska, Iwona Mozer-Lisewska, Danuta Januszkiewicz-Lewandowska
AIM: To evaluate the association of IFNL3 (IL28B) SNP rs4803217 with severity of disease and treatment outcome in chronic hepatitis C (CHC). METHODS: The study enrolled 196 CHC Polish patients (82 women and 114 men in age 20-64) infected with hepatitis C virus (HCV) genotype 1. They were treatment naïve and qualified to pegylated interferon alpha (PEG-IFN-α) and ribavirin (RBV) therapy. The analyzed baseline parameters included: degree of inflammation, stage of fibrosis, viral load as well as alanine aminotransferase (ALT), asparagine aminotransferase (AST) and total bilirubin (TBIL)...
June 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28637756/high-resolution-meta-transcriptomics-reveals-the-ecological-dynamics-of-mosquito-associated-rna-viruses-in-western-australia
#18
Mang Shi, Peter Neville, Jay Nicholson, John-Sebastian Eden, Allison Imrie, Edward C Holmes
Mosquitoes harbour a high diversity of RNA viruses, including many that impact human health. Despite a growing effort to describe the extent and nature of the mosquito virome, little is known about how these viruses persist, spread, and interact with both their hosts and other microbes. To address this issue we performed a meta-transcriptomics analysis of 12 Western Australian mosquito populations structured by species and geographic location. Our results identified the complete genomes of 24 species of RNA viruses from a diverse range of viral families and orders, among which 19 are newly described...
June 21, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28637626/chromosome-4q25-variants-and-recurrence-after-second-generation-cryoballoon-ablation-in-patients-with-paroxysmal-atrial-fibrillation
#19
Shinsuke Miyazaki, Yusuke Ebana, Lian Liu, Hiroaki Nakamura, Hitoshi Hachiya, Hiroshi Taniguchi, Takamitsu Takagi, Takatsugu Kajiyama, Tomonori Watanabe, Miyako Igarashi, Shigeki Kusa, Takashi Niida, Yoshito Iesaka, Tetsushi Furukawa
BACKGROUND: Chromosome 4q25 single-nucleotide polymorphisms (SNPs) are associated with atrial fibrillation (AF) recurrence after radiofrequency catheter ablation, however the underlying mechanism is unknown. Pulmonary vein (PV) reconnections are common post-radiofrequency ablation. We explored the pre-procedural parameters, including AF susceptibility SNPs, predicting the response to PV isolation (PVI) using second-generation cryoballoons. METHODS: One hundred fifty-seven paroxysmal AF patients undergoing PVI using second-generation cryoballoons and genetic testing were enrolled...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28636500/the-association-of-rs1047763-and-rs1008898-of-c1galt1-with-iga-nephropathy-risk-a-global-meta-analysis
#20
Ruili Nie, Guixue Cheng, Jin Zhang, Yu Dong, Chen Wang, Jianhua Liu, Xiaosong Qin
IgA nephropathy (IgAN) is a globally common primary glomerulonephritis characterized by an elevated level of serum IgA and immune complex deposition in the mesangial area. In the serum of patients with IgAN, the hinge region of IgA1 immunoglobulin contains aberrantly glycosylated O-glycans deficient in galactose, which is normally added to the core 1 O-glycan structure by core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1), the key enzyme in the process of glycosylation...
June 2017: Monoclonal Antibodies in Immunodiagnosis and Immunotherapy
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