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https://www.readbyqxmd.com/read/28803992/p-rex1-amplification-promotes-progression-of-cutaneous-melanoma-via-the-pak1-p38-mmp-2-pathway
#1
Jinhua Wang, Hajime Hirose, Guanhua Du, Kelly Chong, Eiji Kiyohara, Isaac P Witz, Dave S B Hoon
P-REX1 (PIP3-dependent Rac exchange factor-1) is a guanine nucleotide exchange factor that activates Rac by catalyzing exchange of GDP for GTP bound to Rac. Aberrant up-regulation of P-REX1 expression has a role in metastasis however, copy number (CN) and function of P-REX1 in cutaneous melanoma are unclear. To explore the role of P-REX1 in melanoma, SNP 6.0 and Exon 1.0 ST microarrays were assessed. There was a higher CN (2.82-fold change) of P-REX1 in melanoma cells than in melanocytes, and P-REX1 expression was significantly correlated with P-REX1 CN...
August 10, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28800731/the-analysis-of-apol1-genetic-variation-and-haplotype-diversity-provided-by-1000-genomes-project
#2
Ting Peng, Li Wang, Guisen Li
BACKGROUND: The APOL1 gene variants has been shown to be associated with an increased risk of multiple kinds of diseases, particularly in African Americans, but not in Caucasians and Asians. In this study, we explored the single nucleotide polymorphism (SNP) and haplotype diversity of APOL1 gene in different races provided by 1000 Genomes project. METHODS: Variants of APOL1 gene in 1000 Genome Project were obtained and SNPs located in the regulatory region or coding region were selected for genetic variation analysis...
August 11, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28800603/genetic-variants-specific-to-aging-related-verbal-memory-insights-from-gwass-in-a-population-based-cohort
#3
Thalida E Arpawong, Neil Pendleton, Krisztina Mekli, John J McArdle, Margaret Gatz, Chris Armoskus, James A Knowles, Carol A Prescott
Verbal memory is typically studied using immediate recall (IR) and delayed recall (DR) scores, although DR is dependent on IR capability. Separating these components may be useful for deciphering the genetic variation in age-related memory abilities. This study was conducted to (a) construct individual trajectories in IR and independent aspects of delayed recall, or residualized-DR (rDR), across older adulthood; and (b) identify genetic markers that contribute to four estimated phenotypes: IR and rDR levels and changes after age 60...
2017: PloS One
https://www.readbyqxmd.com/read/28800512/metabotropic-glutamate-receptors-as-emerging-research-targets-in-bipolar-disorder
#4
REVIEW
Caren J Blacker, Charles P Lewis, Mark A Frye, Marin Veldic
Glutamatergic dysregulation is implicated in the neuropathology of bipolar disorder (BD). There is increasing interest in investigating the role of metabotropic glutamate receptors (mGluRs) in BD and as a target for treatment intervention. Bipolar mGluR studies (published January 1992-April 2016) were identified via PubMed, Embase, Web of Science, and Scopus. Full-text screening, data extraction, and quality appraisal were conducted in duplicate, with strict inclusion and exclusion criteria. The initial literature search for mGluRs in BD, including non-bipolar mood disorders and primary psychotic disorders, identified 1544 articles...
July 31, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28800122/increased-expression-of-plasma-induced-abcc1-mrna-in-cystic-fibrosis
#5
Justin E Ideozu, Xi Zhang, Amy Pan, Zainub Ashrafi, Katherine J Woods, Martin J Hessner, Pippa Simpson, Hara Levy
The ABCC1 gene is structurally and functionally related to the cystic fibrosis transmembrane conductance regulator gene (CFTR). Upregulation of ABCC1 is thought to improve lung function in patients with cystic fibrosis (CF); the mechanism underlying this effect is unknown. We analyzed the ABCC1 promoter single nucleotide polymorphism (SNP rs504348), plasma-induced ABCC1 mRNA expression levels, and ABCC1 methylation status and their correlation with clinical variables among CF subjects with differing CFTR mutations...
August 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28797221/use-of-genotyping-by-sequencing-to-determine-the-genetic-structure-in-the-medicinal-plant-chamomile-and-to-identify-flowering-time-and-alpha-bisabolol-associated-snp-loci-by-genome-wide-association-mapping
#6
Lars-Gernot Otto, Prodyut Mondal, Jonathan Brassac, Susanne Preiss, Jörg Degenhardt, Sang He, Jochen Christoph Reif, Timothy Francis Sharbel
BACKGROUND: Chamomile (Matricaria recutita L.) has a long history of use in herbal medicine with various applications, and the flower heads contain numerous secondary metabolites which are medicinally active. In the major crop plants, next generation sequencing (NGS) approaches are intensely applied to exploit genetic resources, to develop genomic resources and to enhance breeding. Here, genotyping-by-sequencing (GBS) has been used in the non-model medicinal plant chamomile to evaluate the genetic structure of the cultivated varieties/populations, and to perform genome wide association study (GWAS) focusing on genes with large effect on flowering time and the medicinally important alpha-bisabolol content...
August 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28797215/the-cadm2-gene-is-associated-with-processing-speed-performance-evidence-among-elderly-with-type-2-diabetes
#7
Lior Greenbaum, Ramit Ravona-Springer, Abigail Livny, Shahar Shelly, Inbal Sharvit-Ginon, Ithamar Ganmore, Anna Alkelai, Anthony Heymann, Michal Schnaider Beeri
OBJECTIVES: Recent large scale meta-analysis of genome wide association studies (GWAS) from multiple cohorts, demonstrated the association of the single nucleotide polymorphism (SNP) rs17518584, with processing speed (measured by the Digit Symbol Substitution Task (DSST) or the Letter Digit Substitution Test (LDST)), at GWAS significance level. This SNP is located within the cell adhesion molecule 2 (CADM2) gene. We aimed to validate this finding in our sample of 944 cognitively normal Jewish elderly individuals with type 2 diabetes (T2D), a population which is at risk for cognitive decline and dementia...
August 11, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28794611/single-nucleotide-polymorphism-1623-a-g-rs180195-in-the-promoter-of-the-thyroglobulin-gene-is-associated-with-autoimmune-thyroid-disease-but-not-with-thyroid-ophthalmopathy
#8
Hooshang Lahooti, Senarath Edirimanne, John P Walsh, Leigh Delbridge, Emily J Hibbert, Jack R Wall
BACKGROUND: Our studies over recent years have focused on some new ideas concerning the pathogenesis for the orbital reaction that characterizes Graves' ophthalmopathy namely, that there are antigens expressed by thyroid tissue and orbital tissue where they are targeted by autoantibodies and/or sensitized T cells, leading to orbital inflammation. While this has been well studied for the thyroid stimulating hormone-receptor, the possible role of another major thyroid antigen, Thyroglobulin (TG), has been largely ignored...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28792718/mdr-1-and-cyp3a5-polymorphisms-in-pediatric-idiopathic-nephrotic-syndrome-impact-on-susceptibility-and-response-to-steroids-preliminary-results
#9
Amira Moussa, Sameh Mabrouk, Haithem Hamdouni, Maroua Ajmi, Miniar Tfifha, Asma Omezzine, Saoussen Abroug, Ali Bouslama
BACKGROUND: Oral steroid treatment is the first line of therapy for childhood nephrotic syndrome (NS). However, resistance to this treatment has been observed in some patients. Here, we investigated the association of two steroid metabolism-related genes with susceptibility to childhood NS and the steroid response. METHODS: We genotyped the single nucleotide polymorphisms (SNP) of MDR-1 [C1236T (rs1128503), G2677T/A (rs2032582), and C3435T (rs1045642)] and the CYP3A5 gene (A6986G) in 63 NS patients and 110 age and gender matched controls by PCR-RFLP...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28792713/investigation-of-fc-receptor-like-3-fcrl-3-gene-polymorphism-rs7528684-with-susceptibility-to-allergic-asthma-in-iranian-north-western-azeri-population
#10
Lida Aslanian-Kalkhoran, Daniel Elieh-Ali-Komi, Mahnaz Sadeghi-Shabestari, Dariush Shanebandi, Zohreh Babaloo, Alireza Razavi, Saeed Sadigh-Eteghad, Tohid Kazemi
BACKGROUND: Asthma is a clinical setting in which multiple cellular and molecular mechanisms are involved. Additionally, increasing genetic studies have provided evidence that single nucleotide polymorphisms (SNPs) in asthma relevant genes confer susceptibility to the disease. Fc receptor-like (FCRL) 3, a transmembrane molecule basically involved in B-cell signaling, mediates immune-disorders including allergy. Aim of study was to investigate the possible association of rs7528684 SNP in FCRL3 gene with a predisposition to allergic asthma in Iranian North-western Azeri population...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28792146/a-novel-association-between-lysyl-oxidase-gene-polymorphism-and-intracranial-aneurysm-in-koreans
#11
Eun Pyo Hong, Jin Pyeong Jeon, Sung Eun Kim, Jin Seo Yang, Hyuk Jai Choi, Suk Hyung Kang, Yong Jun Cho
PURPOSE: Lysyl oxidase (LOX) controls the cross-linking and maturation of elastin and collagen fibers. In this study, we investigated the association between LOX gene polymorphisms and intracranial aneurysm (IA) formation in a homogeneous Korean population. MATERIALS AND METHODS: This cross-sectional study involved 80 age-sex matched patients with IA and controls. Fisher's exact test was performed to analyze allelic associations between ten single nucleotide polymorphisms (SNPs) and IA, including 41 ruptured and 39 unruptured cases...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28792098/identification-of-expression-quantitative-trait-loci-eqtls-in-human-peripheral-blood-mononuclear-cells-pbmcs-and-shared-with-liver-and-brain
#12
Pei He, Wei Xia, Lan Wang, Jian Wu, Yu-Fan Guo, Ke-Qin Zeng, Ming-Jun Wang, Peng-Fei Bing, Fang-Fei Xie, Xin Lu, Yong-Hong Zhang, Shu-Feng Lei, Fei-Yan Deng
PBMCs are essential for immunity and involved in various diseases. To identify genetic variations contributing to PBMCs transcriptome-wide gene expression, we performed a genome-wide eQTL analysis by using genome-wide SNPs data and transcriptome-wide mRNA expression data. To assess whether there are common regulation patterns shared among different tissues/organs, public datasets were utilized to identify common eQTLs shared with PBMCs in lymphoblastoid, monocytes, liver, and brain. Allelic expression imbalance (AEI) assay was employed to validate representative eQTLs identified...
August 9, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28791410/bestrophin-1-gene-analysis-and-associated-clinical-findings-in-a-chinese-patient-with-best-vitelliform-macular-dystrophy
#13
Ying Lin, Tao Li, Hongbin Gao, Yu Lian, Chuan Chen, Yi Zhu, Yonghao Li, Bingqian Liu, Wenli Zhou, Hongye Jiang, Xialin Liu, Xiujuan Zhao, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu
The aim of the present study was to investigate the clinical characteristics and the underlying genetic causes of Best vitelliform macular dystrophy (BVMD) in a sporadic case in a Chinese patient. A 10‑year‑old boy was diagnosed with BVMD; complete ophthalmic examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus photograph, optical coherence tomography and fundus fluorescein angiography imaging. Genomic DNA was extracted from leukocytes of the peripheral blood collected from this patient and his family members...
August 4, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28789952/the-tyr113his-t-c-rs1051740-and-very-slow-phenotype-of-the-ephx1-gene-alters-mirna-26b-5p-and-mirna-1207-5p-expression-in-pregnancy-a-preliminary-study
#14
Pragalathan Naidoo, Rajen N Naidoo, Prithiksha Ramkaran, Kareshma Asharam, Anil A Chuturgoon
BACKGROUND: Environmental insults and microsomal epoxide hydrolase 1 (EPHX1) single nucleotide polymorphisms (SNPs), Tyr113His T/C rs1051740 and His139Arg A/G rs2234922, aberrantly alters microRNA expression and are linked to low birthweights (LBW). OBJECTIVES: To investigate the interplay between pollution, EPHX1 SNPs and microRNAs during pregnancy and associated LBW outcomes. METHODS: South African pregnant women (n=241) were recruited in the MACE birth cohort study in Durban...
August 5, 2017: Gene
https://www.readbyqxmd.com/read/28783930/the-relationship-between-the-snap-25-polymorphism-and-omission-errors-in-korean-children-with-attention-deficit-hyperactivity-disorder
#15
Eunjoo Kim, Dong-Ho Song, Nam-Wook Kim, In-Jung Sohn, Keun-Ah Cheon
Objective: This study aimed to investigate the association between the synaptosomal-associated protein 25 kDa (SNAP-25) genotype and performance on the continuous performance test (CPT) in Korean children with attention-deficit/hyperactivity disorder (ADHD). Methods: Eighty-seven children with ADHD (mean age, 9.23±1.99 years) participated in this study. Omission errors, commission errors, reaction time, and reaction time variability on the CPT were analyzed. The single-nucleotide polymorphism (SNP) rs3746544 (1065 T>G) of SNAP-25 was genotyped to examine the association with CPT performance...
August 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28783044/phenotypic-and-pharmacogenetic-evaluation-of-patients-with-thiazide-induced-hyponatremia
#16
James S Ware, Louise V Wain, Sarath K Channavajjhala, Victoria E Jackson, Elizabeth Edwards, Run Lu, Keith Siew, Wenjing Jia, Nick Shrine, Sue Kinnear, Mahli Jalland, Amanda P Henry, Jenny Clayton, Kevin M O'Shaughnessy, Martin D Tobin, Victor Schuster, Stuart Cook, Ian P Hall, Mark Glover
Thiazide diuretics are among the most widely used treatments for hypertension, but thiazide-induced hyponatremia (TIH), a clinically significant adverse effect, is poorly understood. Here, we have studied the phenotypic and genetic characteristics of patients hospitalized with TIH. In a cohort of 109 TIH patients, those with severe TIH displayed an extended phenotype of intravascular volume expansion, increased free water reabsorption, urinary prostaglandin E2 excretion, and reduced excretion of serum chloride, magnesium, zinc, and antidiuretic hormone...
August 7, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28777361/-associations-between-chronotype-road-accidents-and-polymorphisms-in-genes-linked-with-biological-clock-and-dopaminergic-system
#17
A O Taranov, A N Puchkova, P A Slominsky, T V Tupitsyna, V V Dementiyenko, V B Dorokhov
Public transport driving is a highly demanding activity requiring high skills and responsibility. Shift work, problems with regular sleep schedule negatively impact psychomotor reactions, cognitive functions and ability to react appropriately to the changing environment. For professional drivers all these factors may lead to the increased risk of a road accident. Individual differences in chronotype, cognitive and emotional control are partially genetically determined. AIM: Our study aimed to investigate the possible associations between chronotype parameters, traffic accident history and single nucleotide polymorphisms (SNPs) in a number of genes: RORA (rs1159814), CLOCK (rs12649507), PER3 (rs2640909), NPSR1 (rs324981), NPAS2 (rs4851377), DRD3 (rs6280), SLC6A3 (rs6347), DBH (rs1611125)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28777012/association-of-common-variants-in-tgfa-with-increased-risk-of-knee-osteoarthritis-susceptibility
#18
Guofeng Cui, Rong Wei, Dan Liu, Haojie Yang, Junlong Wu, Lihong Fan, Kunzheng Wang
OBJECTIVE: Osteoarthritis (OA) is a complex degenerative joint disorder, which has contributions from both environmental and genetic factors. Several recent publications have established the connection between hip OA susceptibility and genetic markers within the TGFA gene, however, the relationship of these markers with knee OA has not been elucidated. Therefore, the present study was designed to investigate the potential linkage between common variants of the TGFA gene with knee OA in a large sample of Han Chinese individuals...
August 4, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28775256/a-genome-wide-association-study-identified-a-novel-genetic-loci-ston1-gtf2a1l-lhcgr-fshr-for-bilaterality-of-neovascular-age-related-macular-degeneration
#19
Kyoko Kawashima-Kumagai, Kenji Yamashiro, Munemitsu Yoshikawa, Masahiro Miyake, Gemmy Cheung Chui Ming, Qiao Fan, Jia Yu Koh, Masaaki Saito, Masako Sugahara-Kuroda, Maho Oishi, Yumiko Akagi-Kurashige, Isao Nakata, Hideo Nakanishi, Norimoto Gotoh, Akio Oishi, Hiroshi Tamura, Sotaro Ooto, Akitaka Tsujikawa, Yasuo Kurimoto, Tetsuju Sekiryu, Fumihiko Matsuda, Chiea-Chuen Khor, Ching-Yu Cheng, Tien Yin Wong, Nagahisa Yoshimura
Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality has been rarely reported. In the present study, we performed GWAS using neovascular AMD cases in East Asian. The discovery stage compared 581,252 single nucleotide polymorphisms (SNPs) between 803 unilateral and 321 bilateral Japanese cases but no SNP showed genome-wide significance, while SNPs at six regions showed P-value < 1...
August 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28771614/trem-1-snp-rs2234246-regulates-trem-1-protein-and-mrna-levels-and-is-associated-with-plasma-levels-of-l-selectin
#20
Alex-Ander Aldasoro Arguinano, Sébastien Dadé, Maria Stathopoulou, Marc Derive, Ndeye Coumba Ndiaye, Ting Xie, Christine Masson, Sébastien Gibot, Sophie Visvikis-Siest
High levels of TREM-1 are associated with cardiovascular and inflammatory diseases risks and the most recent studies have showed that TREM-1 deletion or blockade is associated with up to 60% reduction of the development of atherosclerosis. So far, it is unknown whether the levels of TREM-1 protein are genetically regulated. Moreover, TREM family receptors have been suggested to regulate the cellular adhesion process. The goal of this study was to investigate whether polymorphisms within TREM-1 are regulating the variants of serum TREM-1 levels and the expression levels of their mRNA...
2017: PloS One
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