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https://www.readbyqxmd.com/read/27926862/vav-proteins-are-key-regulators-of-card9-signaling-for-innate-antifungal-immunity
#1
Susanne Roth, Hanna Bergmann, Martin Jaeger, Assa Yeroslaviz, Konstantin Neumann, Paul-Albert Koenig, Clarissa Prazeres da Costa, Lesley Vanes, Vinod Kumar, Melissa Johnson, Mauricio Menacho-Márquez, Bianca Habermann, Victor L Tybulewicz, Mihai Netea, Xosé R Bustelo, Jürgen Ruland
Fungal infections are major causes of morbidity and mortality, especially in immunocompromised individuals. The innate immune system senses fungal pathogens through Syk-coupled C-type lectin receptors (CLRs), which signal through the conserved immune adaptor Card9. Although Card9 is essential for antifungal defense, the mechanisms that couple CLR-proximal events to Card9 control are not well defined. Here, we identify Vav proteins as key activators of the Card9 pathway. Vav1, Vav2, and Vav3 cooperate downstream of Dectin-1, Dectin-2, and Mincle to engage Card9 for NF-κB control and proinflammatory gene transcription...
December 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27926811/p22phox-c242t-gene-polymorphism-and-overt-diabetic-nephropathy-a-meta-analysis-of-1-452-participants
#2
Yan-Yan Li, Ge Gong, Hong-Yu Geng, Yun Qian
Background/Aims: The p22phox C242T gene polymorphism (rs4673) may be linked to an increased susceptibility for overt diabetic nephropathy (ODN), but the study results are still inconclusive. Methods: To explore the relationship between p22phox C242T gene polymorphism and ODN, the current meta-analysis of 707 ODN patients and 745 controls from five individual studies was conducted. The pooled odds ratio (OR) and its corresponding 95% confidence interval (CI) were evaluated by either a random or fixed effect model...
December 8, 2016: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/27926628/variants-of-tph2-interact-with-fast-visual-processing-as-assessed-by-metacontrast
#3
Margus Maksimov, Mariliis Vaht, Carolina Murd, Jaanus Harro, Talis Bachmann
Sensitivity to threatening or otherwise unpleasant visual stimuli has become a widely used measure of potential vulnerability/resilience. Basically, experiments using this strategy present brief stimuli, often followed by a mask, and individuals' sensitivity is measured. However, it has not been asked whether the individual differences in threat detection or adaptive resilience associated with genetic variability-related endophenotypes might be just a function of some basic visual functions involved in processing and reporting brief visual stimuli without any emotional content...
December 6, 2016: Neuroreport
https://www.readbyqxmd.com/read/27926596/donor-genotype-and-intragraft-expression-of-cyp3a5-reflect-the-response-to-steroid-treatment-during-acute-renal-allograft-rejection
#4
N V Rekers, T M Flaig, M J K Mallat, M J Spruyt-Gerritse, M Zandbergen, J D H Anholts, I M Bajema, M C Clahsen-van Groningen, J Yang, J W de Fijter, F H J Claas, S Brakemeier, N Lachmann, R Kreutz, E de Heer, K Budde, J Bolbrinker, M Eikmans
BACKGROUND: Glucocorticoid-refractory acute rejection is a risk factor for inferior renal allograft outcome. We investigated genetic predisposition to the response to steroid treatment of acute allograft rejection. METHODS: Single nucleotide polymorphisms of genes involved in glucocorticoid signaling (GR, GLCCI1) and drug metabolism and transport (CYP3A5, ABCB1, and PXR) were analyzed in kidney transplant recipients (1995-2005, Leiden cohort, n=153) treated with methylprednisolone...
December 6, 2016: Transplantation
https://www.readbyqxmd.com/read/27926584/common-single-nucleotide-polymorphisms-in-transient-receptor-potential-melastatin-type-6-increase-the-risk-for-proton-pump-inhibitor-induced-hypomagnesemia-a-case-control-study
#5
Mark W Hess, Jeroen H F de Baaij, Mark M T J Broekman, Tanya M Bisseling, Bertram J T Haarhuis, Adriaan C I T L Tan, René H M Te Morsche, Joost G J Hoenderop, René J M Bindels, Joost P H Drenth
OBJECTIVE: Proton pump inhibitors (PPIs) are effective drugs for the treatment of gastric acid-related disorders. Serious adverse events are rare for PPIs, but recent data suggest that PPIs cause hypomagnesemia. The aim of this study was to estimate the frequency of PPI-induced hypomagnesemia and to define the risk factors for its development. MATERIALS AND METHODS: A total of 133 chronic users of PPIs were enrolled and patients were distinguished on the basis of their serum Mg concentrations...
December 6, 2016: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/27926478/bim-deletion-polymorphisms-in-hispanic-patients-with-non-small-cell-lung-cancer-carriers-of-egfr-mutations
#6
Andrés F Cardona, Leonardo Rojas, Beatriz Wills, Oscar Arrieta, Hernán Carranza, Carlos Vargas, Jorge Otero, Luis Corrales-Rodriguez, Claudio Martín, Noemí Reguart, Pilar Archila, July Rodríguez, Mauricio Cuello, Carlos Ortíz, Sandra Franco, Christian Rolfo, Rafael Rosell, On Behalf Of The CLICaP
BACKGROUND: Germline alterations in the proapoptotic protein Bcl-2-like 11 (BIM) can have a crucial role in diverse tumors. To determine the clinical utility of detecting BIM deletion polymorphisms (par4226 bp/ par363 bp) in EGFR positive non-small-cell lung cancer (NSCLC) we examined the outcomes of patients with and without BIM alterations. RESULTS: BIM deletion was present in 14 patients (15.7%). There were no significant differences between patients with and without BIM-del in clinical characteristics or EGFR mutation type; however, those with BIM-del had a worse overall response rate (ORR) to erlotinib (42...
September 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27926379/a-comparative-analysis-of-chaotic-particle-swarm-optimizations-for-detecting-single-nucleotide-polymorphism-barcodes
#7
Li-Yeh Chuang, Sin-Hua Moi, Yu-Da Lin, Cheng-Hong Yang
OBJECTIVE: Evolutionary algorithms could overcome the computational limitations for the statistical evaluation of large datasets for high-order single nucleotide polymorphism (SNP) barcodes. Previous studies have proposed several chaotic particle swarm optimization (CPSO) methods to detect SNP barcodes for disease analysis (e.g., for breast cancer and chronic diseases). This work evaluated additional chaotic maps combined with the particle swarm optimization (PSO) method to detect SNP barcodes using a high-dimensional dataset...
October 2016: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/27925593/a-review-of-machine-learning-and-statistical-approaches-for-detecting-snp-interactions-in-high-dimensional-genomic-data
#8
Suneetha Uppu, Aneesh Krishna, Raj Gopalan
In this era of genome-wide association studies (GWAS), the quest for understanding the genetic architecture of complex diseases is rapidly increasing more than ever before. The development of high throughput genotyping and next generation sequencing technologies enables genetic epidemiological analysis of large scale data. These advances have led to the identification of a number of single nucleotide polymorphisms (SNPs) responsible for disease susceptibility. The interactions between SNPs associated with complex diseases are increasingly being explored in the current literature...
December 2, 2016: IEEE/ACM Transactions on Computational Biology and Bioinformatics
https://www.readbyqxmd.com/read/27925476/immune-disease-associated-variants-in-gene-enhancers-point-to-bet-epigenetic-mechanisms-for-therapeutic-intervention
#9
David F Tough, Rab K Prinjha
Genome-wide association studies have identified thousands of single nucleotide polymorphisms in the human genome that are statistically associated with particular disease traits. In this Perspective, we review emerging data suggesting that most single nucleotide polymorphisms associated with immune-mediated diseases are found in regulatory regions of the DNA - parts of the genome that control expression of the protein encoding genes - rather than causing mutations in proteins. We discuss how the emerging understanding of particular gene regulatory regions, gene enhancers and the epigenetic mechanisms by which they are regulated is opening up new opportunities for the treatment of immune-mediated diseases, focusing particularly on the BET family of epigenetic reader proteins as potential therapeutic targets...
December 7, 2016: Epigenomics
https://www.readbyqxmd.com/read/27925431/diabetes-mellitus-superoxide-dismutase-and-peroxisome-proliferator-activated-receptor-gamma-polymorphisms-modify-the-outcome-of-end-stage-renal-disease-patients-of-han-chinese-origin
#10
Chia-Ter Chao, Jenq-Wen Huang, Chih-Kang Chiang, Yen-Ching Chen, Cheng-Chung Fang, Fu-Chang Hu, Chen-Chih Chang, Chung-Jen Yen
BACKGROUND: Increased oxidative stress significantly modifies the outcome of patients with diabetes mellitus (DM) and end-stage renal disease (ESRD), and is counteracted by anti-oxidative capacity. However, whether anti-oxidant single nucleotide polymorphisms (SNPs) influence the outcome of ESRD individuals with or without DM has not been tested before. METHODS: We prospectively enrolled multi-center ESRD patients of Han Chinese origin betwen 2002 and 2003, recording their anti-oxidant (superoxide dismutase [SOD2], glutathione peroxidase [GPX1]) and peroxisome proliferator activated receptor-γ (PPAR-γ) genotyping results, and stratified based on DM...
December 7, 2016: Nephrology
https://www.readbyqxmd.com/read/27925380/angiotensin-converting-enzyme-2-polymorphisms-and-postexercise-hypotension-in-hypertensive-medicated-individuals
#11
Karla F Goessler, Marcos D Polito, Gloria de F Mota, Edilamar M de Oliveira, Véronique A Cornelissen
The renin-angiotensin aldosterone system (RAAS) is associated with diverse physiological responses and adaptations to exercise. The angiotensin converting enzyme (ACE) 2 has vasodilatory effects, which might be associated with the blood pressure (BP) responses to acute exercise. The aim of this study was to investigate the role of ACE2 polymorphisms in postexercise hypotension (PEH). Thirty-four medicated hypertensive (61·3 ± 1·7 years, 76·1 ± 2·7 kg, 160 ± 1·6 cm) men (n = 12) and women (n = 22), participated in a control and a moderate intensity exercise session in a randomized order...
December 7, 2016: Clinical Physiology and Functional Imaging
https://www.readbyqxmd.com/read/27925355/epigenetic-analysis-of-the-ifn%C3%AE-3-gene-identifies-a-novel-marker-for-response-to-therapy-in-hcv-infected-subjects
#12
Jeffrey F Waring, J Wade Davis, Emily Dumas, Daniel Cohen, Kenneth Idler, Stephen Abel, Robert Georgantas, Thomas Podsadecki, Sandeep Dutta
Chronic hepatitis C virus (HCV) infection is characterized by high inter-individual variability in response to pegylated interferon and ribavirin. A genetic polymorphism on chromosome 19 (rs12979860) upstream of interferon-λ-3 (IFNλ3) is associated with a 2-fold change in sustained virologic response rate after 48 weeks of treatment with pegylated interferon/ribavirin in HCV genotype 1 (GT1) treatment-naïve patients. We conducted epigenetic analysis on the IFNλ3 promoter to investigate whether DNA methylation is associated with response to HCV therapy...
December 7, 2016: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/27925342/vascular-endothelial-growth-factor-g-405c-polymorphism-may-contribute-to-the-risk-of-developing-papillary-thyroid-carcinoma
#13
İlknur Bingül, Pervin Vural, Semra Doğru-Abbasoğlu, Esra Çil, Müjdat Uysal
BACKGROUND: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. Vascular endothelial growth factor (VEGF) is a mediator implicated with cell proliferation, differentiation and migration, and monocyte/macrophage chemotaxis. In present study, we aimed to investigate the relationship between VEGF gene polymorphisms (G+405C, T-460C, and A-2578C) and PTC susceptibility. METHODS: DNA was isolated from peripheral blood leukocytes of 127 patients with PTC and 203 healthy controls...
December 7, 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27925264/three-intronic-lncrnas-with-monoallelic-expression-derived-from-the-meg8-gene-in-cattle
#14
W Yang, D Li, G Wang, C Zhang, M Zhang, W Zhang, S Li
The field of long noncoding RNA (lncRNA) research has been rapidly advancing in recent years. Antisense lncRNAs, intergenetic lncRNAs and enhancer lncRNAs can regulate genomic imprinting, which leads to parent-origin-specific monoalletic expression of genes. However, the function of intronic ncRNAs in genomic imprinting remains unclear. Previously, we obtained the cDNA sequence of cattle MEG8 gene, which is located in the DLK1-DIO3 imprinted clusters of cattle chromosome 21. In this study, we undertook a systematic search for transcripts mapping to the MEG8 intronic region and identified three novel lncRNAs, named MEG8 intronic RNA 1 (MEG8-IT1), MEG8 intronic RNA 2 (MEG8-IT2) and MEG8 intronic RNA 3 (MEG8-IT3) according to the GENCODE annotated bibliography...
December 7, 2016: Animal Genetics
https://www.readbyqxmd.com/read/27925256/pharmacokinetic-drug-drug-interactions-of-tyrosine-kinase-inhibitors-a-focus-on-cytochrome-p450-transporters-and-acid-suppression-therapy
#15
REVIEW
Caroline Gay, Delphine Toulet, Pascal Le Corre
The extensive use of tyrosine kinase inhibitors (TKI's) in hematology and oncology has shown that these drugs have a significant potential for drug-drug interactions. Since these drugs have a rather low therapeutic window, some drug interactions are of particular clinical relevance either on drug toxicity or on patient's response. Significant interactions occur with concomitant use of acid-suppressive therapy leading to a decreased oral bioavailability. However, such interactions are drug dependent according to their solubility pattern and to the duration of action of acid-suppressive therapy, which is coprescribed...
December 7, 2016: Hematological Oncology
https://www.readbyqxmd.com/read/27925230/role-of-abc-transporters-in-trans-epithelial-transport-of-vitamin-k-antagonists
#16
Bernadette Espana, Solange Couturier, Caroline Prouillac
Vitamin K antagonists remain (VKAs) the oral anticoagulant of choice of venous thromboembolic disease. These drugs are characterized by a large inter-individual variability requiring frequent dose tailoring. Genetic polymorphisms for cytochrome CYP2C9 and VKORC1 explain some of the variability, especially in warfarin and acenocoumarol responses. The aim of this study is to assess on cell models the role of ABC transporters in the intestinal transfer of the main coumarin derivatives (warfarin, acenocoumarol) and indanedione derivatives (phenindione, fluindione)...
December 7, 2016: Biopharmaceutics & Drug Disposition
https://www.readbyqxmd.com/read/27925173/potential-of-long-non-coding-rnas-in-cancer-patients-from-bio-markers-to-therapeutic-targets
#17
REVIEW
Subash Chandra Gupta, Yashoda Nandan Tripathi
Because of high specificity and easy detection in the tissues, serum, plasma, urine and saliva, interest in exploring the potential of long non-coding RNAs (lncRNAs) in cancer patients continues to increase. LncRNAs have shown potential as a bio-marker in the diagnosis and prognosis of bladder cancer, prostate cancer, gastric cancer, pancreatic cancer, breast cancer, and many other cancer types. Some lncRNAs have also been used as adjunct to improve the specificity and sensitivity of existing biomarkers. The molecular tools such as RNA-seq, RNA-FISH, ic-SHAPE and quantitative real-time PCR have been used for examining the lncRNAs' potential...
December 7, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27925170/associations-of-microrna-single-nucleotide-polymorphisms-and-disease-risk-and-pathophysiology
#18
REVIEW
Xiaoxiao Liu, Zhijun Han, Chengjian Yang
Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by up-regulating the expression of classical inflammation markers. Recent studies have suggested that SNPs located in gene-encoding microRNAs (miRNAs) affect various aspects of diseases by regulating the expression or activity of miRNAs...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27925136/multidimensional-evaluation-of-endogenous-and-health-factors-affecting-food-preferences-taste-and-smell-perception
#19
D Guido, S Perna, M Carrai, R Barale, M Grassi, M Rondanelli
OBJECTIVE: This study, by taking a holistic approach, investigates the relationships between taste, smell sensitivity and food preference with prognostic (endogenous and health) factors including age, gender, genetic taste markers, body mass, cigarette smoking, and number of drugs used. DESIGN: Cross sectional study. SETTING: Northern Italy. PARTICIPANTS: 203 healthy subjects (160 women/43 men; mean age: 58.2±19.8 years) were examined...
2016: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/27925065/natural-canine-infection-by-leishmania-infantum-and-leishmania-amazonensis-and-their-implications-for-disease-control
#20
Letícia da Cruz Sanches, Cleber Costa de Martini, Alex Akira Nakamura, Maria Emília Bodini Santiago, Beatriz Dolabela de Lima, Valéria Marçal Felix de Lima
Leishmaniasis is a major public health problem worldwide. Because Leishmania can adapt to new hosts or vectors, knowledge concerning the current etiological agent in dogs is important in endemic areas. This study aimed to identify the Leishmania species detected in 103 samples of peripheral blood from dogs that were naturally infected with these protozoa. The diagnosis of leishmaniasis was determined through parasitological examination, the indirect enzyme-linked immunosorbent assay (ELISA) and the polymerase chain reaction (PCR)...
December 1, 2016: Revista Brasileira de Parasitologia Veterinária, Brazilian Journal of Veterinary Parasitology
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