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https://www.readbyqxmd.com/read/28927226/female-clock%C3%AE-19-%C3%AE-19-mice-are-protected-from-the-development-of-age-dependent-cardiomyopathy
#1
Faisal J Alibhai, Cristine J Reitz, Willem T Peppler, Poulami Basu, Paul Sheppard, Elena Choleris, Marica Bakovic, Tami A Martino
Aims: Circadian rhythms are important for healthy cardiovascular physiology and they are regulated by the molecular circadian mechanism. Previously, we showed that disruption of the circadian mechanism factor CLOCK in male Clock Δ19/Δ19 mice led to development of age-dependent cardiomyopathy. Here, we investigate the role of biological sex in protecting against heart disease in aging female Clock Δ19/Δ19 mice. Methods and results: Female Clock Δ19/Δ19 mice are protected from the development of cardiomyopathy with age, as heart structure and function are similar to 18 months of age versus female WT mice...
September 12, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28927196/the-intricate-interplay-between-msi-and-polymorphisms-of-dna-repair-enzymes-in-gastric-cancer-h-pylori-associated
#2
Isabelle Joyce de Lima Silva-Fernandes, Emanuele Silva de Oliveira, Juliana Carvalho Santos, Marcelo Lima Ribeiro, Adriana Camargo Ferrasi, Maria Inês de Moura Campos Pardini, Rommel Mário Rodriguez Burbano, Silvia Helena Barem Rabenhorst
Gastric cancer is the fourth most common type of cancer worldwide. Helicobacter pylori is a well-established risk factor and may cause injuries to genomic integrity through an inefficient DNA repair. This study aimed to examine the influence of polymorphisms in DNA repair enzymes using markers for microsatellite instability (MSI). Polymorphisms of DNA repair enzymes were detected by PCR-RFLP and MSI, by high resolution melt (HRM) analysis. Helicobacter pylori detection and genotyping were accomplished by PCR...
July 1, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28927096/laptm4b-2-allele-is-associated-with-the-development-of-papillary-thyroid-carcinoma-in-chinese-women
#3
Yue Meng, Rouli Zhou, Jianjun Xu, Qingyun Zhang
Lysosome-associated protein transmembrane 4-β (LAPTM4B) contains a polymorphic region that contributes to the increased risk of numerous types of tumor. However, no study has yet demonstrated an association between the expression of the LAPTM4B gene and tumor differentiation, and the reason that LAPTM4B polymorphisms affect the susceptibility of individuals to cancer remains to be elucidated. The present study assessed the possible association between LAPTM4B polymorphism and the risk of papillary thyroid carcinoma (PTC), and attempted to identify the underlying mechanism for variation in patient susceptibility with respect to transcription regulation in the polymorphism region...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28927037/xrcc1-and-xpd-polymorphisms-and-their-relation-to-the-clinical-course-in-hepatocarcinoma-patients
#4
Qinghai Guan, Zhiqiang Chen, Qiangpu Chen, Xuting Zhi
In this study genotyping of hepatocellular carcinoma (HCC) patients was conducted to detect polymorphisms on the X-ray repair cross-complementing 1 (XRCC1) and xeroderma pigmentosum complementary group D (XPD) genes and analyze the relationship of their presence with the clinical features of the cancer. A total of 172 patients with HCC were selected in Qilu Hospital, Shandong University, from January 2010 to September 2011. All patients underwent resection of HCC and no tumor metastases were found. Peripheral venous blood samples (3-5 ml) were collected from the patients to extract genomic DNA...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28927022/salt-stress-response-mechanisms-using-de-novo-transcriptome-sequencing-of-salt-tolerant-and-sensitive-corchorus-spp-genotypes
#5
Zemao Yang, Ruike Lu, Zhigang Dai, An Yan, Qing Tang, Chaohua Cheng, Ying Xu, Wenting Yang, Jianguang Su
High salinity is a major environmental stressor for crops. To understand the regulatory mechanisms underlying salt tolerance, we conducted a comparative transcriptome analysis between salt-tolerant and salt-sensitive jute (Corchorus spp.) genotypes in leaf and root tissues under salt stress and control conditions. In total, 68,961 unigenes were identified. Additionally, 11,100 unigenes (including 385 transcription factors (TFs)) exhibited significant differential expression in salt-tolerant or salt-sensitive genotypes...
September 18, 2017: Genes
https://www.readbyqxmd.com/read/28926971/mini-review-the-contribution-of-intermediate-phenotypes-to-gxe-effects-on-disorders-of-body-composition-in-the-new-omics-era
#6
REVIEW
Edna J Nava-Gonzalez, Esther C Gallegos-Cabriales, Irene Leal-Berumen, Raul A Bastarrachea
Studies of gene-environment (GxE) interactions describe how genetic and environmental factors influence the risk of developing disease. Intermediate (molecular or clinical) phenotypes (IPs) are traits or metabolic biomarkers that mediate the effects of gene-environment influences on risk behaviors. Functional systems genomics discovery offers mechanistic insights into how DNA variations affect IPs in order to detect genetic causality for a given disease. Disorders of body composition include obesity (OB), Type 2 diabetes (T2D), and osteoporosis (OSTP)...
September 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28926725/association-between-x-ray-repair-cross-complementing-group-1-xrcc1-arg399gln-polymorphism-and-endometriosis-a-systematic-review-and-meta-analysis
#7
Mo-Qi Lv, Jin Wang, Xiao-Qing Yu, Hui-Hui Hong, Wen-Juan Ren, Pang Ge, Dang-Xia Zhou
OBJECTIVE(S): X-ray repair cross-complementing group 1(XRCC1) gene is one of the DNA repair pathway genes playing a vital role in endometriosis risk. Various studies have explored the association between them, however, the results remained inconsistent. So to confirm the association between XRCC1 Arg399Gln polymorphism and the risk of endometriosis, a meta-analysis was conducted. STUDY DESIGN: PubMed, Web of Science, Science Director, Cochrane Library, Google Scholar, China National Knowledge Infrastructure (CNKI) and Wanfang Data databases were searched to identify the all relevant studies before Sep...
September 14, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28926565/a-snp-panel-and-online-tool-for-checking-genotype-concordance-through-comparing-qr-codes
#8
Yonghong Du, Joshua S Martin, John McGee, Yuchen Yang, Eric Yi Liu, Yingrui Sun, Matthias Geihs, Xuejun Kong, Eric Lingfeng Zhou, Yun Li, Jie Huang
In the current precision medicine era, more and more samples get genotyped and sequenced. Both researchers and commercial companies expend significant time and resources to reduce the error rate. However, it has been reported that there is a sample mix-up rate of between 0.1% and 1%, not to mention the possibly higher mix-up rate during the down-stream genetic reporting processes. Even on the low end of this estimate, this translates to a significant number of mislabeled samples, especially over the projected one billion people that will be sequenced within the next decade...
2017: PloS One
https://www.readbyqxmd.com/read/28926322/vitamin-d-status-serum-lipid-concentrations-and-vitamin-d-receptor-vdr-gene-polymorphisms-in-familial-mediterranean-fever
#9
Turan Turhan, Halef Okan Doğan, Nihal Boğdaycioğlu, Nilnur Eyerci, Ahmet Omma, İsmail Sari, Ahmet Yeşilyurt, Yaşar Karaaslan
Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. A total of 38 patients were in acute attacks at the time of investigation...
September 18, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28926292/vegf-polymorphisms-among-neovascular-age-related-macular-degenerative-subjects-in-a-multiethnic-population
#10
Nur Afiqah Mohamad, Vasudevan Ramachandran, Patimah Ismail, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Norshakimah Md Bakri, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman
AIM: To determine the association of vascular endothelial growth factor (VEGF) polymorphisms with neovascular age-related macular degeneration (nAMD). MATERIALS AND METHODS: One hundred thirty-five nAMD patients and 135 controls were recruited to determine the association of the -460 C/T, the -2549 I/D, and the +405 G/C polymorphisms with the VEGF gene. Genotyping was conducted using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach, and association analyses were conducted using chi-square analysis and logistic regression analysis...
September 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28926202/retinal-dysfunction-characterizes-subtypes-of-dominant-optic-atrophy
#11
Maria Lucia Cascavilla, Vincenzo Parisi, Giacinto Triolo, Lucia Ziccardi, Enrico Borrelli, Antonio Di Renzo, Nicole Balducci, Costanza Lamperti, Stefania Bianchi Marzoli, Fatima Darvizeh, Alfredo A Sadun, Valerio Carelli, Francesco Bandello, Piero Barboni
PURPOSE: To assess preganglionic retinal function using multifocal electroretinogram (mfERG) in patients affected by dominant optic atrophy (DOA) stratified by OPA1 gene mutation. METHODS: Multifocal electroretinogram (mfERG) was recorded in 18 DOA patients (DOA group, 35 eyes) and 25 age-matched healthy subjects (control group, 25 eyes). Patients were stratified in two groups based on gene mutation: missense mutation (DOA-M group, 11 eyes) and mutation causing haploinsufficiency (DOA-H group, 24 eyes)...
September 19, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28926193/association-between-cfh-cfb-arms2-serpinf1-vegfr1-and-vegf-polymorphisms-and-anatomical-and-functional-response-to-ranibizumab-treatment-in-neovascular-age-related-macular-degeneration
#12
Estefania Cobos, Sergio Recalde, Jaouad Anter, Maria Hernandez-Sanchez, Carla Barreales, Leticia Olavarrieta, Alicia Valverde, Marta Suarez-Figueroa, Fernando Cruz, Maximino Abraldes, Julian Pérez-Pérez, Patricia Fernández-Robredo, Luis Arias, Alfredo García-Layana
PURPOSE: We sought to determine if specific genetic single nucleotide polymorphisms (SNPs) influence vascular endothelial growth factor inhibition response to ranibizumab in neovascular age-related macular degeneration (AMD). METHODS: A total of 403 Caucasian patients diagnosed with exudative AMD were included. After a three-injection loading phase, a pro re nata regimen was followed. Nine SNPs from six different genes (CFH, CFB, ARMS2, SERPINF1, VEGFR1, VEGF) were genotyped...
September 19, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28926158/selection-on-a-behaviour-related-gene-during-the-first-stages-of-the-biological-invasion-pathway
#13
J C Mueller, P Edelaar, A Baños-Villalba, M Carrete, J Potti, J Blas, J L Tella, B Kempenaers
Human-induced biological invasions are common worldwide and often have negative impacts on wildlife and human societies. Several studies have shown evidence for selection on invaders after introduction to the new range. However, selective processes already acting prior to introduction have been largely neglected. Here we tested whether such early selection acts on known behaviour-related gene variants in the yellow-crowned bishop (Euplectes afer), a pet-traded African songbird. We tested for non-random allele frequency changes after trapping, acclimation and survival in captivity...
September 19, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28926120/glecaprevir-pibrentasvir-for-hcv-genotype-3-patients-with-cirrhosis-and-or-prior-treatment-experience-a-partially-randomized-phase-iii-clinical-trial
#14
David Wyles, Fred Poordad, Stanley Wang, Laurent Alric, Franco Felizarta, Paul Y Kwo, Benedict Maliakkal, Kosh Agarwal, Tarek Hassanein, Frank Weilert, Samuel S Lee, Jens Kort, Sandra S Lovell, Ran Liu, Chih-Wei Lin, Tami Pilot-Matias, Preethi Krishnan, Federico J Mensa
BACKGROUND: This study assessed the efficacy and safety of ribavirin (RBV)-free coformulated glecaprevir/pibrentasvir (G/P) in patients with hepatitis C virus (HCV) genotype (GT) 3 infection with either prior treatment experience and/or compensated cirrhosis, a patient population with limited treatment options. METHODS: SURVEYOR-II, Part 3 was a partially-randomized, open-label, multicenter, phase 3 study. Treatment-experienced (prior interferon (IFN) or pegIFN ± ribavirin or SOF plus ribavirin ± pegIFN therapy) patients without cirrhosis were randomized 1:1 to receive 12 or 16 weeks of G/P (300 mg/120 mg) once daily...
September 19, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28926000/the-bdnf-val66met-polymorphism-regulates-glucocorticoid-induced-corticohippocampal-remodeling-and-behavioral-despair
#15
M Notaras, X Du, J Gogos, M van den Buuse, R A Hill
The BDNF Val66Met polymorphism has been associated with sensitivity to stress and affective disorders. We therefore sought to model the inter-causality of these relationships under controlled laboratory conditions. We subjected humanized BDNF Val66Met (hBDNF(Val66Met)) transgenic mice to a history of stress, modeled by chronic late-adolescent corticosterone (CORT) exposure, before evaluating affective-related behavior using the forced-swim test (FST) in adulthood. While hBDNF(Met/Met) mice had a depression-like phenotype in the FST irrespective of CORT, hBDNF(Val/Val) wildtype mice had a resilient phenotype but developed an equally robust depressive-like phenotype following CORT...
September 19, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28925718/interaction-analysis-between-blk-rs13277113-polymorphism-and-bank1-rs3733197-polymorphism-mmel1-tnfrsf14-rs3890745-polymorphism-in-determining-susceptibility-to-rheumatoid-arthritis
#16
Hua Huang, Si-Chao Huang, Dong-Jin Hua, Qing-Qing Sun, Han Cen, Xia-Fei Xin
Two pairwise genetic interactions (B cell lymphocyte kinase (BLK) rs13277113,B cell scaffold protein with ankyrin repeats 1 (BANK1) rs3733197and BLK rs13277113 membrane metalloendopeptidase like 1 (MMEL1)/ tumor necrosis factor receptor superfamily member 14 (TNFRSF14) rs3890745) have been demonstrated in determining susceptibility to rheumatoid arthritis (RA) without replication, thus this study was performed to examine whether abovementioned genetic polymorphisms were associated with RA and further tests were performed to see whether aforementioned genetic interactions existed in RA among Chinese population...
September 19, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28925523/bdnf-haplo-insufficiency-impairs-high-frequency-cortical-oscillations-in-mice
#17
Nigel C Jones, Matthew Hudson, Joshua Foreman, Gil Rind, Rachel Hill, Elizabeth E Manning, Maarten van den Buuse
Schizophrenia is a complex psychiatric disorder with a heterogeneous aetiology involving genetic and environmental factors. Deficiencies in both brain-derived neurotrophic factor (BDNF) and NMDA receptor function have been implicated in the disorder, and may play causal and synergistic roles. Perturbations in the regulation of electrophysiological signals, including high-frequency (gamma: 30-80 Hz and beta: 20-30 Hz) neuronal oscillations, are also associated with the disorder. This study investigated the influence of BDNF deficiency and NMDA receptor hypofunction on electrophysiological responses to brief acoustic stimuli...
September 19, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28925400/the-hif-and-other-quandaries-in-vhl-disease
#18
REVIEW
D Tarade, M Ohh
Mutations in VHL underlie von Hippel-Lindau (VHL) disease, a hereditary cancer syndrome with several subtypes depending on the risk of developing certain combination of classic features, such as clear cell renal cell carcinoma (ccRCC), hemangioblastoma and pheochromocytoma. Although numerous potential substrates and functions of pVHL have been described over the past decade, the best-defined role of pVHL has remained as the negative regulator of the heterodimeric hypoxia-inducible factor (HIF) transcription factor via the oxygen-dependent ubiquitin-mediated degradation of HIF-α subunit...
September 18, 2017: Oncogene
https://www.readbyqxmd.com/read/28925068/when-and-how-can-nephrologists-treat-hepatitis-c-virus-infection-in-dialysis-patients
#19
REVIEW
Maya I Davis, Donald F Chute, Raymond T Chung, Meghan E Sise
Hepatitis C virus (HCV) infection, a major cause of end-stage liver disease, is a common comorbidity in patients on dialysis and causes increased morbidity and mortality. Historically HCV has been extremely difficult to cure with interferon and ribavirin-based therapies, which are also associated with significant side effects, and few dialysis patients ever received HCV treatment. However, in the last 4 years, interferon-free direct-acting antiviral therapies have been approved, and several combinations have been studied in dialysis patients...
September 18, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28925058/the-association-between-mica-micb-polymorphism-and-respiratory-syncytial-virus-infection-in-children
#20
Q Luo, X Guo, S Peng, W Luo, F Tian, P Yu, Y Zou
MICA/MICB gene polymorphisms are related to several cancers and infectious diseases, but there are no reports on the association between MICA/MICB gene polymorphisms and respiratory syncytial virus (RSV) infection. To clarify the association between MICA/MICB gene polymorphisms and infection of RSV in children, we collected fresh blood samples from paediatric patients with and without pneumonia after RSV infection. The MICA/MICB alleles were characterized by PCR sequence-specific primers (PCR-SSP) and PCR sequence-based genotyping (PCR-SBT), and then, the frequency of the MICA/MICB alleles and haplotypes was calculated...
September 18, 2017: International Journal of Immunogenetics
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