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Allelic exclusion

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https://www.readbyqxmd.com/read/28938153/massively-parallel-sequencing-of-32-forensic-markers-using-the-precision-id-globalfiler%C3%A2-ngs-str-panel-and-the-ion-pgm%C3%A2-system
#1
Zheng Wang, Di Zhou, Hui Wang, Zhenjun Jia, Jing Liu, Xiaoqin Qian, Chengtao Li, Yiping Hou
Massively parallel sequencing (MPS) technologies have proved capable of sequencing the majority of the key forensic STR markers. By MPS, not only the repeat-length size but also sequence variations could be detected. Recently, Thermo Fisher Scientific has designed an advanced MPS 32-plex panel, named the Precision ID GlobalFiler™ NGS STR Panel, where the primer set has been designed specifically for the purpose of MPS technologies and the data analysis are supported by a new version HID STR Genotyper Plugin (V4...
September 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28930021/blactx-m-27-encoding-escherichia-coli-sequence-type-131-lineage-c1-m27-clone-in-clinical-isolates-germany
#2
Hiren Ghosh, Swapnil Doijad, Linda Falgenhauer, Moritz Fritzenwanker, Can Imirzalioglu, Trinad Chakraborty
We examined extended-spectrum β-lactamase-producing isolates from livestock, humans, companion animals, food, and the environment during 2009-2016 in Germany for the presence of CTX-M-27 allele within Escherichia coli sequence type (ST) 131. E. coli ST131 C1-M27 was exclusively present in humans; its incidence increased from 0% in 2009 to 45% in 2016.
October 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28920998/quantitative-evaluation-of-ppar-%C3%AE-2-pro12ala-polymorphism-with-hypertension
#3
REVIEW
W Yang, J Wang, W Ye, X Li
BACKGROUND: The peroxisome proliferator-activated receptor γ2 (PPARγ2)Pro12Ala polymorphism has been reported to be associated with hypertension. However, relevant studies have shown inconsistent results. METHODS: To quantitatively evaluate the relationship between the PPARγ2Pro12Ala polymorphism and hypertension risk, we conducted a meta-analysis based on all available studies selected from Scopus, Web of Science, PubMed, Chinese National Knowledge Infrastructure, and Wanfang databases...
September 18, 2017: Herz
https://www.readbyqxmd.com/read/28911086/large-scale-prospective-screening-of-egfr-mutations-in-the-blood-of-advanced-nsclc-patients-to-guide-treatment-decisions
#4
C Mayo-de-Las-Casas, N Jordana-Ariza, M Garzón-Ibañez, A Balada-Bel, J Bertrán-Alamillo, S Viteri-Ramírez, N Reguart, M A Muñoz-Quintana, P Lianes-Barragan, C Camps, E Jantús, J Remon-Massip, S Calabuig, D Aguiar, M L Gil, N Viñolas, A K Santos-Rodríguez, M Majem, B García-Peláez, S Villatoro, A Pérez-Rosado, J C Monasterio, E Ovalle, M J Catalán, R Campos, D Morales-Espinosa, A Martínez-Bueno, M González-Cao, X González, I Moya-Horno, A E Sosa, N Karachaliou, R Rosell, M A Molina-Vila
Background: In a significant percentage of advanced non-small-cell lung cancer (NSCLC) patients, tumor tissue is unavailable or insufficient for genetic analyses. We prospectively analyzed if circulating-free DNA (cfDNA) purified from blood can be used as a surrogate in this setting to select patients for treatment with epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs). Patients and methods: Blood samples were collected in 119 hospitals from 1138 advanced NSCLC patients at presentation (n = 1033) or at progression to EGFR-TKIs (n = 105) with no biopsy or insufficient tumor tissue...
September 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28903985/molecular-tools-for-the-detection-and-deduction-of-azole-antifungal-drug-resistance-phenotypes-in-aspergillus-species
#5
REVIEW
Anna Dudakova, Birgit Spiess, Marut Tangwattanachuleeporn, Christoph Sasse, Dieter Buchheidt, Michael Weig, Uwe Groß, Oliver Bader
The incidence of azole resistance in Aspergillus species has increased over the past years, most importantly for Aspergillus fumigatus. This is partially attributable to the global spread of only a few resistance alleles through the environment. Secondary resistance is a significant clinical concern, as invasive aspergillosis with drug-susceptible strains is already difficult to treat, and exclusion of azole-based antifungals from prophylaxis or first-line treatment of invasive aspergillosis in high-risk patients would dramatically limit drug choices, thus increasing mortality rates for immunocompromised patients...
October 2017: Clinical Microbiology Reviews
https://www.readbyqxmd.com/read/28903432/genetic-variation-and-forensic-characteristic-analysis-of-25-strs-of-a-novel-fluorescence-co-amplification-system-in-chinese-southern-shaanxi-han-population
#6
Yao-Shun Liu, Jian-Gang Chen, Ting Mei, Yu-Xin Guo, Hao-Tian Meng, Jian-Fei Li, Yuan-Yuan Wei, Xiao-Ye Jin, Bo-Feng Zhu, Li-Ping Zhang
We analyzed the genetic polymorphisms of 15 autosomal and 10 Y-chromosomal STR loci in 214 individuals of Han population from Southern Shaanxi of China and studied the genetic relationships between Southern Shaanxi Han and other populations. We observed a total of 150 alleles at 15 autosomal STR loci with the corresponding allelic frequencies ranging from 0.0023 to 0.5210, and the combined power of discrimination and exclusion for the 15 autosomal STR loci were 0.99999999999999998866 and 0.999998491, respectively...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28901559/single-nucleotide-polymorphisms-for-dna-typing-in-the-domestic-horse
#7
H M Holl, J Vanhnasy, R E Everts, K Hoefs-Martin, D Cook, S A Brooks, M L Carpenter, C D Bustamante, C Lafayette
Genetic markers are important resources for individual identification and parentage assessment. Although short tandem repeats (STRs) have been the traditional DNA marker, technological advances have led to single nucleotide polymorphisms (SNPs) becoming an attractive alternative. SNPs can be highly multiplexed and automatically scored, which allows for easier standardization and sharing among laboratories. Equine parentage is currently assessed using STRs. We obtained a publicly available SNP dataset of 729 horses representing 32 diverse breeds...
September 13, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28894202/principal-contribution-of-hla-dq-alleles-dqb1-06-04-and-dqb1-03-01-to-disease-resistance-against-primary-biliary-cholangitis-in-a-japanese-population
#8
Michio Yasunami, Hitomi Nakamura, Katsushi Tokunaga, Minae Kawashima, Nao Nishida, Yuki Hitomi, Minoru Nakamura
Identification of the primary allele(s) in HLA class II associated diseases remains challenging because of a tight linkage between alleles of HLA-DR and -DQ loci. In the present study, we determined the genotypes of seven HLA loci (HLA-A, -B, -DRB1, -DQA1, -DQB1, -DPA1 and -DPB1) for 1200 Japanese patients with primary biliary cholangitis and 1196 controls. Observation of recombination derivatives facilitated an evaluation of the effects of individual HLA alleles consisting of disease-prone/disease-resistant HLA haplotypes...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28889026/gnas-mutations-and-heterotopic-ossification
#9
Murat Bastepe
GNAS is a complex imprinted gene encoding the alpha-subunit of the stimulatory heterotrimeric G protein (Gsα). GNAS gives rise to additional gene products that exhibit exclusively maternal or paternal expression, such as XLαs, a large variant of Gsα that shows exclusively paternal expression and is partly identical to the latter. Gsα itself is expressed biallelically in most tissues, although the expression occurs predominantly from the maternal allele in a small set of tissues, such as renal proximal tubules...
September 6, 2017: Bone
https://www.readbyqxmd.com/read/28868757/depression-in-early-adolescence-contributions-from-relational-aggression-and-variation-in-the-oxytocin-receptor-gene
#10
Shauna C Kushner, Kathrin Herzhoff, Suzanne Vrshek-Schallhorn, Jennifer L Tackett
Interpersonal stress arising from relational aggression (RA)-the intentional effort to harm others via rejection and exclusion-may increase risk for depression in youth. Biological vulnerabilities related to the hormone oxytocin, which affects social behavior and stress responses, may exacerbate this risk. In a community sample of 307 youth (52% female; age range = 10-14 years), we tested whether (1) the association between RA and subsequent depressive symptoms was mediated through social problems and (2) a single nucleotide polymorphism (rs53576) in the oxytocin receptor gene (OXTR) moderated this indirect association between RA and depression, where GG homozygotes are predicted to be more sensitive to the effects of social problems than A-allele carriers...
September 4, 2017: Aggressive Behavior
https://www.readbyqxmd.com/read/28868569/genetic-analysis-of-12-x-str-loci-in-the-serbian-population-from-vojvodina-province
#11
Igor Veselinović, Dušan Vapa, Mihajla Djan, Nevena Veličković, Tanja Veljović, Galina Petrić
The analysis of 12 X-STR loci included in the Investigator® Argus X-12 kit was performed on a sample of 325 unrelated persons from Vojvodina Province, Republic of Serbia. No significant differences were observed in the allele frequencies in males and females. Heterozygosity values among the studied loci ranged from 67.62 to 94.28%. All loci in female individuals were consistent with the Hardy-Weinberg equilibrium test. The combined power of discrimination values in male and female individuals was 0.9999999994 and 0...
September 3, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28866789/population-data-and-forensic-efficiency-of-21-autosomal-str-loci-included-in-agcu-ex22-amplification-system-in-the-wanzhou-han-population
#12
Xing Zou, Yongguo Li, Zehong Wei, Ting Wang, Yue Hu, Ying Zhu, Jianbo Li, Renkuan Tang
Autosomal short tandem repeats (STRs), widely distributed in the whole human genome, play an important role in personal identification and parentage testing. In this study, the allele frequencies and forensic efficiency parameters of 21 autosomal STR loci included in the AGCU EX22 kit were obtained from 433 Chinese Han individuals residing in the Wanzhou District in the north of Chongqing Municipality, Southwest China. No deviation from Hardy-Weinberg equilibrium was observed in all of the 21 STR loci. A total of 241 alleles were observed with allele frequencies ranging from 0...
September 2, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28857482/dopaminergic-and-behavioral-changes-in-a-loss-of-imprinting-model-of-cdkn1c
#13
Gráinne I McNamara, Brittany A Davis, Molly Browne, Trevor Humby, Jeffrey W Dalley, Jing Xia, Rosalind M John, Anthony R Isles
The imprinted gene Cdkn1c is expressed exclusively from the maternally inherited allele as a consequences of epigenetic regulation. Cdkn1c exemplifies many of the functional characteristics of imprinted genes, playing a role in fetal growth and placental development. However, Cdkn1c also plays an important role in the brain, being key to the appropriate proliferation and differentiation of midbrain dopaminergic neurons. Using a transgenic model (Cdkn1c(BACx1) ) with a two-fold elevation in Cdkn1c expression that mimics loss-of-imprinting, we show that increased expression of Cdkn1c in the brain gives rise to neurobiological and behavioural changes indicative of a functionally altered dopaminergic system...
August 31, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28851893/the-fer-rs4957796-tt-genotype-is-associated-with-unfavorable-90-day-survival-in-caucasian-patients-with-severe-ards-due-to-pneumonia
#14
José Hinz, Benedikt Büttner, Fabian Kriesel, Maximilian Steinau, Aron Frederik Popov, Michael Ghadimi, Tim Beissbarth, Mladen Tzvetkov, Ingo Bergmann, Ashham Mansur
A recent genome-wide association study showed that a genetic variant within the FER gene is associated with survival in patients with sepsis due to pneumonia. Because severe pneumonia is the main cause of acute respiratory distress syndrome (ARDS), we aimed to investigate the effect of the FER polymorphism rs4957796 on the 90-day survival in patients with ARDS due to pneumonia. An assessment of a prospectively collected cohort of 441 patients with ARDS admitted to three intensive care units at the University Medical Centre identified 274 patients with ARDS due to pneumonia...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28844730/association-between-snca-rs2736990-polymorphism-and-parkinson-s-disease-a-meta-analysis
#15
Jinni Fang, Binghui Hou, Hongxin Liu, Xiaona Zhang, Jing Wang, Chang Zhou, Anmu Xie
Emerging evidence suggests that the SNP rs2736990 of SNCA is a susceptibility factor for idiopathic Parkinson's disease (PD) in different populations, but the studies which examined the association have provided inconsistent results. Therefore, we performed a meta-analysis of some case-control studies to obtain a more exact estimation of there associations. All the relevant studies were extracted from PubMed, Embase, EBSCO, Chineses national knowledge infrastructure, Google Scholar and Wanfang databases (up to February 2017)...
August 24, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28841821/influence-of-epistasis-on-response-to-genomic-selection-using-complete-sequence-data
#16
Natalia S Forneris, Zulma G Vitezica, Andres Legarra, Miguel Pérez-Enciso
BACKGROUND: The effect of epistasis on response to selection is a highly debated topic. Here, we investigated the impact of epistasis on response to sequence-based selection via genomic best linear prediction (GBLUP) in a regime of strong non-symmetrical epistasis under divergent selection, using real Drosophila sequence data. We also explored the possible advantage of including epistasis in the evaluation model and/or of knowing the causal mutations. RESULTS: Response to selection was almost exclusively due to changes in allele frequency at a few loci with a large effect...
August 25, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28829814/variability-and-population-genetic-structure-in-achyrocline-flaccida-weinm-dc-a-species-with-high-value-in-folk-medicine-in-south-america
#17
Juliana da Rosa, Gabriela Gomes Weber, Rafaela Cardoso, Felipe Górski, Paulo Roberto Da-Silva
Better knowledge of medicinal plant species and their conservation is an urgent need worldwide. Decision making for conservation strategies can be based on the knowledge of the variability and population genetic structure of the species and on the events that may influence these genetic parameters. Achyrocline flaccida (Weinm.) DC. is a native plant from the grassy fields of South America with high value in folk medicine. In spite of its importance, no genetic and conservation studies are available for the species...
2017: PloS One
https://www.readbyqxmd.com/read/28819444/association-of-hla-drb1-hla-dqb1-polymorphisms-with-hpv-16-e6-variants-among-young-cervical-cancer-patients-in-china
#18
Yan Hu, Jin-Ze Wu, Hua Zhu, Sheng-Hui Zhang, Yan-Ying Zhu, Yi-Yao Wu, Ci-Xia Shuai
Potential correlation of human papillomavirus (HPV) 16 E6 variants and human leukocyte antigen (HLA) class II polymorphisms has been suggested in patients with cervical cancer, so far little information is available about the possible interaction between E6 variants and HLA class II variability during the obviously accelerated progression to cervical cancer in young women. In this study, we aimed to explore the association between the HPV16 E6 variants and HLA-DRB1, DQB1 alleles in a Chinese young cervical cancer population...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28819183/distribution-bias-and-biochemical-characterization-of-top1mt-single-nucleotide-variants
#19
Hongliang Zhang, Yeonee Seol, Keli Agama, Keir C Neuman, Yves Pommier
Mitochondrial topoisomerase I (TOP1MT) is a type IB topoisomerase encoded in the nucleus of vertebrate cells. In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across different human ethnic groups and even more clearly in a cohort of 129 US patients with breast cancer and in the NCI-60 cancer cell lines. We expressed these two TOP1MT variants and the double-variant (V256I-R525W) as recombinant proteins, as well as a less common variant E168G (rs200673353, MAF = 0...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28817155/genetic-variation-of-15-autosomal-strs-in-a-population-sample-of-bedouins-residing-in-the-area-of-the-fourth-nile-cataract-sudan
#20
Andrzej Ossowski, Jaroslaw Piatek, Miroslaw Parafiniuk, Aleksandra Pudlo, Witold Pepinski, Malgorzata Skawronska, Michal Szeremeta, Anna Niemcunowicz-Janica, Ireneusz Soltyszewski
The purpose of the paper was to report allelic frequencies of 15 autosomal STR markers (AmpFlSTR NGM PCR Amplification Kit) for Bedouin inhabitants in the area of the Fourth Nile Cataract in Sudan, and compute commonly used population and forensic biostatistical parameters. Buccal swabs were collected from 117 unrelated individuals. DNA was extracted using DNA QIAamp(®) DNA Mini Kit, and quantitated with Quantifiler Human Quantification Kit in a 7500 Real-Time PCR System. Amplification of 15 AmpFlSTR NGM PCR Kit loci was performed in PCR System 9700...
August 17, 2017: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
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