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https://www.readbyqxmd.com/read/28550723/tyrosine-receptor-kinase-b-gene-variants-ntrk2-variants-are-associated-with-depressive-disorders-in-temporal-lobe-epilepsy
#1
Carolina Machado Torres, Marina Siebert, Hugo Bock, Suelen Mandelli Mota, Juliana Unis Castan, Francisco Scornavacca, Luiza Amaral de Castro, Maria Luiza Saraiva-Pereira, Marino Muxfeldt Bianchin
RATIONALE: Psychiatric comorbidities are highly prevalent in epilepsy, adding an important burden to the disease and profoundly affecting the quality of life of these individuals. Patients with temporal lobe epilepsy (TLE) are especially at risk to develop depression and several lines of evidence suggest that the association of depression with epilepsy might be related to common biological substrates. In this study, we test whether NTRK2 allele variants are associated with mood disorders or depressive disorders in patients with TLE...
May 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28550647/genetic-variation-in-the-adipoq-gene-adiponectin-concentrations-and-risk-of-colorectal-cancer-a-mendelian-randomization-analysis-using-data-from-three-large-cohort-studies
#2
Katharina Nimptsch, Mingyang Song, Krasimira Aleksandrova, Michail Katsoulis, Heinz Freisling, Mazda Jenab, Marc J Gunter, Konstantinos K Tsilidis, Elisabete Weiderpass, H Bas Bueno-De-Mesquita, Dawn Q Chong, Majken K Jensen, Chunsen Wu, Kim Overvad, Tilman Kühn, Myrto Barrdahl, Olle Melander, Karin Jirström, Petra H Peeters, Sabina Sieri, Salvatore Panico, Amanda J Cross, Elio Riboli, Bethany Van Guelpen, Robin Myte, José María Huerta, Miguel Rodriguez-Barranco, José Ramón Quirós, Miren Dorronsoro, Anne Tjønneland, Anja Olsen, Ruth Travis, Marie-Christine Boutron-Ruault, Franck Carbonnel, Gianluca Severi, Catalina Bonet, Domenico Palli, Jürgen Janke, Young-Ae Lee, Heiner Boeing, Edward L Giovannucci, Shuji Ogino, Charles S Fuchs, Eric Rimm, Kana Wu, Andrew T Chan, Tobias Pischon
Higher levels of circulating adiponectin have been related to lower risk of colorectal cancer in several prospective cohort studies, but it remains unclear whether this association may be causal. We aimed to improve causal inference in a Mendelian Randomization meta-analysis using nested case-control studies of the European Prospective Investigation into Cancer and Nutrition (EPIC, 623 cases, 623 matched controls), the Health Professionals Follow-up Study (HPFS, 231 cases, 230 controls) and the Nurses' Health Study (NHS, 399 cases, 774 controls) with available data on pre-diagnostic adiponectin concentrations and selected single nucleotide polymorphisms in the ADIPOQ gene...
May 26, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28550509/possible-involvement-of-acss2-gene-in-alcoholism
#3
Andrea Frozino Ribeiro, Roseli Boerngen de Lacerda, Diego Correia, Ana Lúcia Brunialti-Godard, Débora Marques de Miranda, Valdir Ribeiro Campos, Valéria Fernandes de Souza, Angela Maria Ribeiro
Alcoholism is a psychiatric disorder that composes one of the principal causes of health disabilities in the world population. Furthermore, the available pharmacotherapy is limited. Therefore, this research was carried out to better understand the basis of the underlying neurobiological processes of this disorder and to discover potential therapeutic targets. Real-time PCR analysis was performed in the amygdala nuclei region of the brain of mice exposed to a chronic three-bottle free-choice model (water, 5 and 10% v/v ethanol)...
May 26, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28550460/the-impact-of-non-genetic-and-genetic-factors-on-a-stable-warfarin-dose-in-thai-patients
#4
Nitsupa Wattanachai, Sutthida Kaewmoongkun, Burabha Pussadhamma, Pattarapong Makarawate, Chaiyasith Wongvipaporn, Songsak Kiatchoosakun, Suda Vannaprasaht, Wichittra Tassaneeyakul
PURPOSE: The aim of this study was to investigate the contributions of non-genetic and genetic factors on the variability of stable warfarin doses in Thai patients. METHODS: A total of 250 Thai patients with stable warfarin doses were enrolled in the study. Demographics and clinical data, e.g., age, body mass index, indications for warfarin and concomitant medications, were documented. Four single nucleotide polymorphisms in the VKORC1 - 1639G > A, CYP2C9*3, CYP4F2 rs2108622, and UGT1A1 rs887829 genes were detected from gDNA using TaqMan allelic discrimination assays...
May 26, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28550450/abcc4-functional-snp-in-the-3-splice-acceptor-site-of-exon-8-g912t-is-associated-with-unfavorable-clinical-outcome-in-children-with-acute-lymphoblastic-leukemia
#5
Hamzeh Mesrian Tanha, Soheila Rahgozar, Marjan Mojtabavi Naeini
OBJECTIVES: ATP-binding cassette subfamily C member 4 (ABCC4) encoding MRP4 protein is involved in pediatric acute lymphoblastic leukemia (ALL) drug resistance. The nonsynonymous single nucleotide polymorphism (SNP) rs2274407 (G912T; K304N) is located in the 3' splice acceptor site of exon 8 of ABCC4 pre-mRNA. The aim of this study was to investigate the prognostic value of rs2274407 in childhood ALL and its possible functional effect on MRP4. METHODS: ABCC4 G912T SNP was genotyped in 145 Iranian Philadelphia-negative (Ph(-)) children with ALL using modified tetra-primer ARMS PCR and evaluated for possible association with 3-year disease-free survival (3DFS)...
May 26, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28550400/association-study-of-cd154-polymorphisms-and-serum-cd154-level-with-systemic-lupus-erythematous-in-chinese-population
#6
Yang Xiang, Jing Guo, You-Fan Peng, Hua-Tuo Huang, Yan Lan, Ye-Sheng Wei
The aim of this study was to investigate the association of three polymorphisms of CD154 with risk of SLE in Chinese population. The study population comprised 770 Chinese individuals, including 350 SLE patients and 420 healthy controls. The gene polymorphism was measured using Snapshot SNP genotyping assays and confirmed by sequencing. Serum CD154 (sCD154) level was measured by ELISA. Compared with control group, sCD154 levels were significantly increased in case group (P < 0.001). The minor C allele of rs1126535 was associated with a significantly increased risk of SLE as compared to the major T allele (P < 0...
May 26, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28550290/differential-methylation-is-associated-with-non-syndromic-cleft-lip-and-palate-and-contributes-to-penetrance-effects
#7
Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E Moore, Philip Stanier, Maria Rita Passos-Bueno
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We postulate that epigenetic factors as DNA methylation might contribute to this missing heritability. Using a Methylome-wide association study in a Brazilian cohort (67 NSCLP, 59 controls), we found 578 methylation variable positions (MVPs) that were significantly associated with NSCLP...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28550262/increased-plasma-homocysteine-level-is%C3%A2-associated-with-executive-dysfunction-in%C3%A2-type-2-diabetic-patients-with-mild-cognitive-impairment
#8
Sai Tian, Jing Han, Rong Huang, Jie Sun, Rongrong Cai, Yanjue Shen, Shaohua Wang
BACKGROUND: Homocysteine (Hcy) is involved in the pathogenesis of type 2 diabetes mellitus (T2DM) and Alzheimer's disease. OBJECTIVE: We aimed to investigate the role of Hcy in T2DM patients with mild cognitive impairment (MCI), and to determine whether methylene tetrahydrofolate reductase (MTHFR) C677T or cystathionine beta-synthase (CBS) 844ins68 polymorphism is related to T2DM-associated MCI. METHODS: We recruited 285 T2DM patients and divided them into two groups, 140 patients with MCI, and 145 healthy-cognition controls, on the basis of Montreal Cognitive Assessment (MoCA) scores...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550261/effect-of-apoe-%C3%AE%C2%B54-genotype-on-metabolic-biomarkers-in-aging-and-alzheimer-s-disease
#9
Jill Morris K, Roxanne Adeline Z Uy, Eric D Vidoni, Heather M Wilkins, Ashley E Archer, John P Thyfault, John M Miles, Jeffrey M Burns
Alzheimer's disease (AD) may have heterogeneous pathophysiological underpinnings, with risk factors including apolipoprotein rmvarep4 (APOE4) genotype and insulin resistance. We hypothesized that distinct phenotypes exist within AD. We examined APOE4 and metabolic biomarkers in 338 subjects (n = 213 nondemented (ND), n = 125 AD). We further characterized steady state free fatty acid (FFA) levels in a subset of 45 participants who had also participated in a hyperinsulinemic-euglycemic clamp. Insulin resistance (HOMA-IR) was elevated in AD versus ND (p = 0...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550258/effect-of-apoe-genotype-on-amyloid-deposition-brain-volume-and-memory-in-cognitively-normal-older-individuals
#10
Yen Ying Lim, Robert Williamson, Simon M Laws, Victor L Villemagne, Pierrick Bourgeat, Christopher Fowler, Stephanie Rainey-Smith, Olivier Salvado, Ralph N Martins, Christopher C Rowe, Colin L Masters, Paul Maruff
BACKGROUND: The association between the apolipoprotein E (APOE) ɛ4 allele and high risk of developing Alzheimer's disease (AD) dementia before the age of 80 has been recognized for over 30 years. However, the timing and mode of action of APOE is not understood, nor has there been a detailed analysis of the effect of APOE genotype on memory, hippocampal volume, and amyloid-β (Aβ) levels in cognitively normal adults. OBJECTIVE: Examine the effect of APOE allelic genotype on the relationship between Aβ levels, hippocampal volume, and memory in cognitively normal adults...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550244/apoe-%C3%AE%C2%B54-modulation-of-training-outcomes-in-several-cognitive-domains-in-a-sample-of-cognitively-intact-older-adults
#11
Ramón López-Higes, Inmaculada C Rodríguez-Rojo, José M Prados, Pedro Montejo, David Del-Río, María Luisa Delgado-Losada, Mercedes Montenegro, David López-Sanz, Ana Barabash
BACKGROUND: Most research points to the ɛ4 allele of the apolipoprotein E (APOE) gene as the most recognizable genetic risk factor associated with Alzheimer's disease pathogenesis. It has been also suggested that the APOEɛ4 allele has a negative influence on cognitive functioning, which begins long before cognitive impairment becomes manifest. However, still, little is known about the APOEɛ4 interaction with cognitive intervention programs. OBJECTIVE: The main goal of this study was to explore whether there was a differential APOE genotype modulation effect after cognitive training in different domains, such as language comprehension, executive functions, and memory...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550240/the-role-of-gst-polymorphism-in-reperfusion-induced-oxidative-stress-inflammatory-responses-and-clinical-complications-after-surgical-and-percutaneous-coronary-intervention
#12
Örs Pintér, Péter Hardi, Tibor Nagy, Balázs Gasz, Viktoria Kovács, Endre Arató, László Sínay, László Lénárd, Gábor Jancsó
BACKGROUND: Patients having coronary artery disease treated by coronary bypass or PCI procedure are exposed to tissue damage because of the phenomenon called reperfusion injury. Reperfusion injury can be characterized/monitored by oxidative stress parameters, inflammatory markers and by post-operative complication rate. OBJECTIVE: Beyond the obvious factors determining its severity (affected myocardial mass, ischaemic time, collateral circulation etc.) we examined the GST enzyme group's most cardio selective member, GSTP1 and its genetic polymorphism if there is any genetically determined preventive effect on the above-mentioned parameters...
May 24, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28550191/the-level-of-deletion-17p-and-bi-allelic-inactivation-of-tp53-has-a-significant-impact-on-clinical-outcome-in-multiple-myeloma
#13
Sharmilan Thanendrarajan, Erming Tian, Pingping Qu, Pankaj Mathur, Carolina Schinke, Frits van Rhee, Maurizio Zangari, Leo Rasche, Niels Weinhold, Daisy Alapat, William Bellamy, Cody Ashby, Sandra Mattox, Joshua Epstein, Shmuel Yaccoby, Bart Barlogie, Antje Hoering, Michael Bauer, Brian A Walker, Faith E Davies, Gareth J Morgan
No abstract text is available yet for this article.
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28550086/the-iron-dependent-mitochondrial-superoxide-dismutase-soda-promotes-leishmania-virulence
#14
Bidyottam Mittra, Maria Fernanda Laranjeira-Silva, Danilo Ciccone Miguel, Juliana Perrone Bezerra de Menezes, Norma W Andrews
Leishmaniasis is one of the leading global neglected diseases, affecting millions of people worldwide. Leishmania infection depends on the ability of insect-transmitted metacyclic promastigotes to invade mammalian hosts, differentiate into amastigotes and replicate inside macrophages. To counter the hostile oxidative environment inside macrophages, these protozoans contain anti-oxidant systems that include iron-dependent superoxide dismutases (SODs) in mitochondria and glycosomes. Increasing evidence suggests that in addition to this protective role, Leishmania mitochondrial SOD may also initiate H2O2-mediated redox signaling that regulates gene expression and metabolic changes associated with differentiation into virulent forms...
May 26, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28550058/whole-genome-and-core-genome-multilocus-sequence-typing-and-single-nucleotide-polymorphism-analyses-of-listeria-monocytogenes-associated-with-an-outbreak-linked-to-cheese-united-states-2013
#15
Yi Chen, Yan Luo, Heather Carleton, Ruth Timme, David Melka, Tim Muruvanda, Charles Wang, George Kastanis, Lee S Katz, Lauren Turner, Angela Fritzinger, Terence Moore, Robert Stones, Joseph Blankenship, Monique Salter, Mickey Parish, Thomas S Hammack, Peter S Evans, Cheryl L Tarr, Marc W Allard, Errol A Strain, Eric W Brown
Epidemiological findings of a listeriosis outbreak in 2013 implicated Hispanic-style cheese produced by Company A, and pulsed-field gel electrophoresis (PFGE) and whole genome sequencing (WGS) were performed on clinical isolates and representative isolates collected from Company A cheese and environmental samples during the investigation. The results strengthened the evidence for cheese as the vehicle. Surveillance sampling and WGS three months later revealed that the equipment purchased by Company B from Company A yielded an environmental isolate highly similar to all outbreak isolates...
May 26, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28550018/a-unified-characterization-of-population-structure-and-relatedness
#16
Bruce S Weir, Jérôme Goudet
Many population genetic activities, ranging from evolutionary studies to association mapping to forensic identification, rely on appropriate estimates of population structure or relatedness. All applications require recognition that quantities with an underlying meaning of allelic dependence are not defined in an absolute sense, but instead are made "relative to" some set of alleles other than the target set. The 1984 Weir and Cockerham FST estimate made explicit that the reference set of alleles was across populations, whereas standard kinship estimates do not make the reference explicit...
May 26, 2017: Genetics
https://www.readbyqxmd.com/read/28549954/amlexanox-enhances-premature-termination-codon-read-through-in-col7a1-and-expression-of-full-length-type-vii-collagen-potential-therapy-for-recessive-dystrophic-epidermolysis-bullosa
#17
Velina S Atanasova, Qiujie Jiang, Marco Prisco, Christina Gruber, Josefina Piñón Hofbauer, Mei Chen, Cristina Has, Leena Bruckner-Tuderman, John A McGrath, Jouni Uitto, Andrew P South
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. 46% of RDEB patients harbor at least one premature termination codon (PTC) mutation in COL7A1 and previous studies have shown that aminoglycosides are able to overcome RDEB PTC mutations by inducing "read-through" and incorporation of an amino acid at the PTC site...
May 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28549876/prediction-and-analysis-of-promiscuous-t-cell-epitopes-derived-from-the-vaccine-candidate-antigens-of-leishmania-donovani-binding-to-mhc-class-ii-alleles-using-in-silico-approach
#18
Manju Kashyap, Varun Jaiswal, Umar Farooq
Visceral leishmaniasis is a dreadful infectious disease and caused by the intracellular protozoan parasites, Leishmania donovani and Leishmania infantum. Despite extensive efforts for developing effective prophylactic vaccine, still no vaccine is available against leishmaniasis. However, advancement in immunoinformatics methods generated new dimension in peptide based vaccine development. The present study was aimed to identify T-cell epitopes from the vaccine candidate antigens like Lipophosphogylcan-3(LPG-3) and Nucleoside hydrolase (NH) from the L...
May 23, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28549650/effect-of-picalm-rs3851179-polymorphism-on-the-default-mode-network-function-in-mild-cognitive-impairment
#19
Ding-Ming Sun, Hai-Feng Chen, Qi-Long Zuo, Fan Su, Feng Bai, Chun-Feng Liu
Alterations in default mode network (DMN) functional connectivity (FC) might accompany the dysfunction of Alzheimer's disease (AD). Indeed, episodic memory impairment is a hallmark of AD, and mild cognitive impairment (MCI) has been associated with a high risk for AD. Phosphatidylinositol-binding clathrin assembly protein (PICALM) (rs3851179) has been associated with AD; in particular, the A allele may serve a protective role, while the G allele serves as a strong genetic risk factor. Therefore, the identification of genetic polymorphisms associated with the DMN is required in MCI subjects...
May 23, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28549591/single-allele-lmbrd1-knockout-results-in-cardiac-hypertrophy
#20
Linda Tzu-Ling Tseng, Chieh-Liang Lin, Kuei-Hsiang Pan, Kai-Yuan Tzen, Ming-Jai Su, Chia-Ti Tsai, Yi-Han Li, Pai-Chi Li, Fu-Tien Chiang, Shin C Chang, Ming-Fu Chang
BACKGROUND/PURPOSE: LMBD1 protein, a type IV-B plasma membrane protein possessing nine putative trans-membrane domains, was previously demonstrated at cellular level to play a critical part in the signaling cascade of insulin receptor through its involvement in regulating clathrin-mediated endocytosis. However, at physiological level, the significance of LMBD1 protein in cardiac development remains unclear. METHODS: To understand the role of Lmbrd1 gene involved in the cardiac function, heterozygous knockout mice were used as an animal model system...
May 23, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
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