keyword
MENU ▼
Read by QxMD icon Read
search

Alleles

keyword
https://www.readbyqxmd.com/read/29793138/computation-of-marginal-distributions-of-peak-heights-in-electropherograms-for-analysing-single-source-and-mixture-str-dna-samples
#1
Robert G Cowell
Current models for single source and mixture samples, and probabilistic genotyping software based on them used for analysing STR electropherogram data, assume simple probability distributions, such as the gamma distribution, to model the allelic peak height variability given the initial amount of DNA prior to PCR amplification. Here we illustrate how amplicon number distributions, for a model of the process of sample DNA collection and PCR amplification, may be efficiently computed by evaluating probability generating functions using discrete Fourier transforms...
May 4, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29792895/pharmacogenomics-of-drug-induced-liver-injury-dili-molecular-biology-to-clinical-applications
#2
REVIEW
Kalaiyarasi Kaliyaperumal, Jane I Grove, Robin M Delahay, William J H Griffiths, Adam Duckworth, Guruprasad P Aithal
A number of drug-specific and host-related factors contribute to the development of drug-induced liver injury (DILI). Investigations focused on genetic susceptibility to DILI have advanced our understanding of the pathogenesis of this rare, yet potentially life-threatening adverse reaction. Candidate gene studies involving well-characterized patients with DILI and drug-exposed controls have identified single nucleotide polymorphisms (SNPs) affecting the metabolism and clearance of specific drugs and hence, influencing individual's susceptibility to DILI...
May 21, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29792872/association-of-glucocerebrosidase-polymorphisms-and-mutations-with-dementia-in-incident-parkinson-s-disease
#3
Kristin Aaser Lunde, Janete Chung, Ingvild Dalen, Kenn Freddy Pedersen, Jan Linder, Magdalena E Domellöf, Eva Elgh, Angus D Macleod, Charalampos Tzoulis, Jan Petter Larsen, Ole-Bjørn Tysnes, Lars Forsgren, Carl E Counsell, Guido Alves, Jodi Maple-Grødem
INTRODUCTION: Both polymorphisms and mutations in glucocerebrosidase (GBA) may influence the development of dementia in patients with Parkinson's disease. METHODS: Four hundred forty-two patients and 419 controls were followed for 7 years. Dementia was diagnosed using established criteria. Participants were analyzed for GBA genetic variants, including E326K, T369M, and L444P. Associations between GBA carrier status and dementia were assessed with Cox survival analysis...
May 21, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29792847/the-polymorphisms-of-atoh-7-et-1-and-ace-in-non-arteritic-anterior-ischemic-optic-neuropathy
#4
Ting Chen, Jin Ma, Guangliang Shan, Yong Zhong
Non-arteritic anterior ischemic optic neuropathy (NAION) is a common cause of acute optic neuropathy in the elderly. The role of the genetic polymorphisms of Atonal Homolog 7 (ATOH7), Endothelin-1 (ET-1) and Angiotensin Converting Enzyme (ACE) in NAION and the combined effects of the gene-gene and gene-medical comorbidities on NAION were not clear. We conducted a perspective, case-control study. 71 NAION patients and 142 age and sex-matched healthy controls were enrolled. Single nucleotide polymorphisms of ATOH7 (rs1900004), ET-1 (rs5370) and ACE (rs1799752) were identified by polymerase chain reaction (PCR) method and all PCR products were screened with Sanger sequencing...
May 21, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29792538/single-nucleotide-polymorphisms-in-il23r-il12rb2-rs1495965-are-highly-prevalent-in-patients-with-behcet-s-uveitis-and-vary-between-populations
#5
Michal Kramer, Murat Hasanreisoglu, Shirel Weiss, Deniz Kumova, Michal Schaap-Fogler, Sezen Guntekin-Ergun, Sengul Ozdek, Gokhan Gurelik, Mehmet Ali Ergün, Nitza Goldenberg-Cohen, Yoram Cohen
PURPOSE: To test the frequency of single-nucleotide polymorphisms in the IL-10, IL23R-IL12RB2 genes in patients with Behcet's uveitis. METHODS: Blood samples were collected from 89 Israeli and Turkish patients, and from healthy control subjects of different origins. Genomic DNA was extracted from peripheral blood leukocytes and genotyped. RESULTS: The risk allele, A, in rs1800871, of IL-10 gene was highly prevalent in Behcet's uveitis and healthy control samples alike; highest among the Turkish groups...
May 24, 2018: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#6
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792231/high-burden-of-birthweight-lowering-genetic-variants-in-africans-and-asians
#7
Fasil Tekola-Ayele, Tsegaselassie Workalemahu, Azmeraw T Amare
BACKGROUND: Birthweight is an important predictor of infant morbidity and mortality, and is associated with cardiovascular diseases, obesity, and diabetes in childhood and adulthood. Birthweight and fetal growth show regional and population variations even under similar maternal conditions, and a large proportion of these differences are not explained by environmental factors. Whether and to what extent population genetic variations at key birthweight-associated loci account for the residual birthweight disparities not explained by environmental determinants is unknown...
May 24, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29791750/tiled-array-based-sequencing-identifies-enrichment-of-loss-of-function-variants-in-the-highly-homologous-filaggrin-gene-in-african-american-children-with-severe-atopic-dermatitis
#8
Mary Elizabeth Mathyer, Ashley M Quiggle, X F Colin C Wong, Simon L I J Denil, Monique G Kumar, Heather M Ciliberto, Susan J Bayliss, John E Common, Cristina de Guzman Strong
Filaggrin (FLG) loss of function (LOF) variants are a major risk factor for the common inflammatory skin disease, atopic dermatitis (AD), and are often population-specific. African American (AA) children are disproportionately affected with AD, often later developing asthma and/or allergic rhinitis and comprise an atopy health disparity group for which the role of FLG LOF is not well known. Discovery of FLG LOF using exome sequencing is challenging given the known difficulties for accurate short-read alignment to FLG's high homology repeat variation...
May 23, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29791666/prevalence-of-polymorphisms-in-the-ankk1-drd2-drd3-genes-and-metabolic-syndrome-in-refractory-schizophrenia
#9
Jeizziani Aparecida Ferreira Pinto, Pedro Henrique Batista de Freitas, Fernanda Daniela Dorneles Nunes, Paulo Afonso Granjeiro, Luciana Lara Dos Santos, Richardson Miranda Machado
OBJECTIVE: to estimate the prevalence of TaqIA, -141C and rs6280 polymorphisms of the ANKK1, DRD2 and DRD3 genes and evaluate their association with the occurrence of metabolic syndrome in patients with refractory schizophrenia. METHOD: cross-sectional study conducted in the Extended Western Region of Minas Gerais, with refractory schizophrenic patients using the antipsychotic clozapine. Sociodemographic, clinical, anthropometric, biochemical and genetic data were collected...
2018: Revista Latino-americana de Enfermagem
https://www.readbyqxmd.com/read/29791587/association-study-of-aff1-rs340630-polymorphism-with-genetic-susceptibility-to-rheumatoid-arthritis-in-chinese-population
#10
Qing-Qing Sun, Dong-Jin Hua, Si-Chao Huang, Han Cen, Li Zhou, Song Shao
This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0...
2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29791568/assessing-the-association-between-hypoxia-during-craniofacial-development-and-oral-clefts
#11
Erika Calvano Küchler, Lea Assed da Silva, Paulo Nelson-Filho, Ticiana M Sabóia, Angela M Rentschler, José Mauro Granjeiro, Driely Oliveira, Patricia N Tannure, Raquel Assed da Silva, Leonardo Santos Antunes, Michael Tsang, Alexandre R Vieira
Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts...
2018: Journal of Applied Oral Science: Revista FOB
https://www.readbyqxmd.com/read/29791508/does-arterial-hypertension-influence-the-onset-of-huntington-s-disease
#12
Leire Valcárcel-Ocete, Asier Fullaondo, Gorka Alkorta-Aranburu, María García-Barcina, Raymund A C Roos, Lena E Hjermind, Carsten Saft, Marina Frontali, Ralf Reilmann, Hugh Rickards, Ana M Zubiaga, Ana Aguirre
Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). The aim of this study is to evaluate the contribution of AHT to the AO of HD. We used data from a cohort of 630 European HD patients with adult onset collected by the REGISTRY project of the European Huntington's Disease Network...
2018: PloS One
https://www.readbyqxmd.com/read/29791484/combining-r-gene-and-quantitative-resistance-increases-effectiveness-of-cultivar-resistance-against-leptosphaeria-maculans-in-brassica-napus-in-different-environments
#13
Yong-Ju Huang, Georgia K Mitrousia, Siti Nordahliawate M Sidique, Aiming Qi, Bruce D L Fitt
Using cultivar resistance against pathogens is one of the most economical and environmentally friendly methods for control of crop diseases. However, cultivar resistance can be easily rendered ineffective due to changes in pathogen populations or environments. To test the hypothesis that combining R gene-mediated resistance and quantitative resistance (QR) in one cultivar can provide more effective resistance than use of either type of resistance on its own, effectiveness of resistance in eight oilseed rape (Brassica napus) cultivars with different R genes and/or QR against Leptosphaeria maculans (phoma stem canker) was investigated in 13 different environments/sites over three growing seasons (2010/2011, 2011/2012 and 2012/2013)...
2018: PloS One
https://www.readbyqxmd.com/read/29791233/association-of-a-chromosome-locus-9p21-3-cdkn2b-as1-variant-rs4977574-with-hypertension-the-tamrisk-study
#14
Tarja Kunnas, Jaakko Piesanen, Seppo T Nikkari
AIMS: Chromosome locus 9p21.3 CDKN2B antisense RNA 1 (CDKN2B-AS1) has been found to contain multiple genetic markers for coronary artery disease (CAD) by genome-wide association studies (GWAS). Of these, the association of variants rs4977574, rs10757274, and rs2383206 with hypertension was studied in the Tampere adult population cardiovascular risk study (TAMRISK). MATERIALS AND METHODS: A Finnish cohort of 336 subjects diagnosed with hypertension and 444 controls was analyzed...
May 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29791232/the-role-of-interleukin-31-polymorphisms-in-non-small-cell-lung-cancer-genetic-susceptibility-and-clinical-outcome
#15
Yongfeng Yang, Li Li, Fei Chen, Li Zhang, Hong Bu
BACKGROUND: Interleukin-31 (IL-31), a novel T helper type 2 effector cytokine, is known to have an important effect on the pathogenesis of allergic disease and tumors. However, the impact of IL-31 on human lung cancer remains unclear. METHODS: This study explored the role of IL-31 polymorphisms in lung cancer and sought to characterize how IL-31 polymorphisms correlate with lung cancer tumorigenesis and patient survival rates. Using a single-nucleotide polymorphism genotype assay, we examined the expression of two IL-31 polymorphisms (rs7977932 and rs4758680) in samples from 302 lung cancer patients and 493 control cases...
May 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29791066/application-of-denaturing-capillary-electrophoresis-for-the-detection-of-prognostic-mutations-in-isocitrate-dehydrogenase-1-and-isocitrate-dehydrogenase-2-genes-in-brain-tumors
#16
Lucie Benesova, Barbora Belsanova, Filip Kramar, Tereza Halkova, Vladimir Benes, Marek Minarik
Malignant transformation in gliomas is frequently supplemented by somatic mutations in isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 genes. It has recently emerged that mutations in these genes are associated with prolonged survival and should be used as prognostic factor in management of brain cancer patients. There are several approaches in use for the detection of isocitrate dehydrogenase 1 and 2 mutations, however, these often exhibit shortcomings such as convoluted protocols with long processing time, complex (and costly) dedicated fluorescent probes and/or high demand on amounts of input DNA...
May 23, 2018: Journal of Separation Science
https://www.readbyqxmd.com/read/29791065/risk-factors-of-valproic-acid-induced-hyperammonaemia-in-chinese-paediatric-patients-with-epilepsy
#17
Xu Zhu, Xinlin Li, Ti Zhang, Limei Zhao
The present study was aimed at identifying genetic and non-genetic risk factors for valproic acid (VPA)-induced hyperammonaemia in Chinese paediatric patients with epilepsy. A total of 210 epileptic patients, treated with VPA as monotherapy, were enrolled and classified into hyperammonaemia and control groups according to their blood ammonia level (cut-off value 50 μmol/L). Serum concentrations of VPA and its major metabolites were simultaneously determined by ultra-high performance liquid chromatography-tandem mass spectrometry...
May 23, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29790918/temporal-and-tissue-specific-variability-of-smn-protein-levels-in-mouse-models-of-spinal-muscular-atrophy
#18
Ewout Jn Groen, Elena Perenthaler, Natalie L Courtney, Crispin Y Jordan, Hannah K Shorrock, Dinja van der Hoorn, Yu-Ting Huang, Lyndsay M Murray, Gabriella Viero, Thomas H Gillingwater
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. Humans have a second SMN gene (SMN2) that is almost identical to SMN1. However, due to alternative splicing the majority of SMN2 mRNA is translated into a truncated, unstable protein that is quickly degraded. Because the presence of SMN2 provides a unique opportunity for therapy development in SMA patients, the mechanisms that regulate SMN2 splicing and mRNA expression have been elucidated in great detail...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29790822/the-serotonin-transporter-polymorphism-5-httlpr-and-cortisol-stress-responsiveness-preliminary-evidence-for-a-modulating-role-for-sleep-quality
#19
Jens H van Dalfsen, C Rob Markus
The short (S) allele of a functional polymorphism (5-HTTLPR) within the promoter region of the serotonin transporter gene (SLC6A4) is found to predispose the risk for stress-related affective disorders relative to the long (L) allele. Evidence suggests that elevated stress reactivity of the hypothalamic-pituitary-adrenal (HPA) axis might underlie this association although there is little understanding about the origin of inconsistent findings. Since inadequate sleep is commonly known to promote HPA stress reactivity, it might well play an important modulating role...
May 23, 2018: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/29790460/establishment-of-the-european-meningococcal-strain-collection-genome-library-emsc-gl-for-the-2011-to-2012-epidemiological-year
#20
Holly B Bratcher, Carina Brehony, Sigrid Heuberger, Despo Pieridou-Bagatzouni, Pavla Křížová, Steen Hoffmann, Maija Toropainen, Muhamed-Kheir Taha, Heike Claus, Georgina Tzanakaki, Tímea Erdôsi, Jelena Galajeva, Arie van der Ende, Anna Skoczyńska, Marina Pana, Alena Vaculíková, Metka Paragi, Martin Cj Maiden, Dominique A Caugant
Invasive meningococcal disease surveillance in Europe combines isolate characterisation and epidemiological data to support public health intervention. A representative European Meningococcal Strain Collection (EMSC) of IMD isolates was obtained, and whole genome sequenced to characterise 799 EMSC isolates from the epidemiological year July 2011-June 2012. To establish a genome library (GL), the isolate information was deposited in the pubMLST.org/neisseria database. Genomes were curated and annotated at 2,429 meningococcal loci, including those defining clonal complex, capsule, antigens, and antimicrobial resistance...
May 2018: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
keyword
keyword
25649
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"