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Genetic variation

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https://www.readbyqxmd.com/read/28538883/refining-the-ideas-of-ethnic-skin
#1
Vicente Torres, Maria Isabel Herane, Adilson Costa, Jaime Piquero Martin, Patricia Troielli
Skin disease occur worldwide, affecting people of all nationalities and all skin types. These diseases may have a genetic component and may manifest differently in specific population groups; however, there has been little study on this aspect. If population-based differences exist, it is reasonable to assume that understanding these differences may optimize treatment. While there is a relative paucity of information about similarities and differences in skin diseases around the world, the knowledge-base is expanding...
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28538160/colonialism-and-genetics-of-comparative-development
#2
Ideen Riahi
This study argues that European colonial policies and former colonies' genetic variation (genetic distance to Europeans and genetic diversity) were interlinked. Over a prolonged period of time, populations that were genetically far from Europeans and had extreme levels of genetic diversity (e.g. in Sub-Saharan Africa and the Americas) adapted to environments that were significantly different from the climatic conditions of continental Europe. This resulted in a divergence in populations' resistance to infectious diseases and positive relationships between European settler mortality at the time of colonization, genetic distance to the technological frontier, and genetic diversity...
May 9, 2017: Economics and Human Biology
https://www.readbyqxmd.com/read/28537804/evaluation-of-testing-of-acute-leukemia-samples-survey-result-from-the-college-of-american-pathologists
#3
Tracy I George, Joseph A Tworek, Nicole E Thomas, Lisa A Fatheree, Rhona J Souers, Raouf E Nakhleh, Daniel A Arber
CONTEXT: - The classification and prognosis determination in acute leukemia (AL) are complex and it is unclear what testing is being performed in practice. OBJECTIVE: - To survey physicians describing their current practice of test ordering in the diagnosis of AL. DESIGN: - In anticipation of a guideline by the College of American Pathologists (CAP) and the American Society for Hematology on laboratory testing needed for the initial workup of AL, a baseline survey was designed by an expert panel from CAP...
May 24, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#4
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28535256/epigenetic-and-genetic-contributions-to-adaptation-in-chlamydomonas
#5
Ilkka Kronholm, Andrew Bassett, David Baulcombe, Sinéad Collins
Epigenetic modifications, such as DNA methylation or histone modifications, can be transmitted between cellular or organismal generations. However, there are no experiments measuring their role in adaptation, so here we use experimental evolution to investigate how epigenetic variation can contribute to adaptation. We manipulated DNA methylation and histone acetylation in the unicellular green alga Chlamydomonas reinhardtii both genetically and chemically to change the amount of epigenetic variation generated or transmitted in adapting populations in three different environments (salt stress, phosphate starvation, and high CO2) for two hundred asexual generations...
May 23, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28535148/stochastic-gene-expression-conditioned-on-large-deviations
#6
Jordan M Horowitz, Rahul V Kulkarni
The intrinsic stochasticity of gene expression can give rise to large fluctuations and rare events that drive phenotypic variation in a population of genetically identical cells. Characterizing the fluctuations that give rise to such rare events motivates the analysis of large deviations in stochastic models of gene expression. Recent developments in non-equilibrium statistical mechanics have led to a framework for analyzing Markovian processes conditioned on rare events and for representing such processes by conditioning-free driven Markovian processes...
May 23, 2017: Physical Biology
https://www.readbyqxmd.com/read/28534829/variation-in-the-genetic-repertoire-of-viruses-infecting-micromonas-pusilla-reflects-horizontal-gene-transfer-and-links-to-their-environmental-distribution
#7
Jan F Finke, Danielle M Winget, Amy M Chan, Curtis A Suttle
Prasinophytes, a group of eukaryotic phytoplankton, has a global distribution and is infected by large double-stranded DNA viruses (prasinoviruses) in the family Phycodnaviridae. This study examines the genetic repertoire, phylogeny, and environmental distribution of phycodnaviruses infecting Micromonas pusilla, other prasinophytes and chlorophytes. Based on comparisons among the genomes of viruses infecting M. pusilla and other phycodnaviruses, as well as the genome from a host isolate of M. pusilla, viruses infecting M...
May 19, 2017: Viruses
https://www.readbyqxmd.com/read/28534786/evolutionary-computing-enriched-computer-aided-diagnosis-system-for-diabetic-retinopathy-a-survey
#8
Romany Mansour
The alterations caused due to diabetes mellitus results into significant micro-vasculature that eventually causes diabetic retinopathy (DR) that keeps on increasing as per time and eventually causes complete vision loss. Identifying subtle variations in morphological changes in retinal blood vessels, optic disk, exudates, micro-aneurysms, hemorrhage etc is complicate and requires robust computer aided diagnosis (CAD) system so as to enable earlier and efficient DR diagnosis practices. In majority of the existing CAD systems, the need of functional enhancement has been realized time by time to ensure accurate and time efficient DR...
May 17, 2017: IEEE Reviews in Biomedical Engineering
https://www.readbyqxmd.com/read/28534526/impact-of-genetic-polymorphisms-determining-leukocyte-neutrophil-count-on-chemotherapy-toxicity
#9
S J Glisovic, Y D Pastore, V Gagne, M Plesa, C Laverdière, J M Leclerc, D Sinnett, M Krajinovic
Neutropenia and infection are major dose-limiting side effects of chemotherapy. The risk of initial infection and subsequent complications are directly related to the depth and duration of neutropenia. Recent genome-wide association studies identified variants in DARC and CXCL2 genes, and in ORMDL3-GSDMA-CSF3 locus on chromosome 17q21 that influence white blood cell and neutrophil counts in healthy individuals. To investigate whether polymorphisms in these loci in conjunction with chemotherapy may modulate risk of treatment complications, we analyzed 21 SNPs across these genes for an association with chemotherapy-related neutropenia and infection in 286 Caucasian children with acute lymphoblastic leukemia...
May 23, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28534453/serotonin-functioning-and-adolescents-alcohol-use-a-genetically-informed-study-examining-mechanisms-of-risk
#10
Frances L Wang, Laurie Chassin, John E Bates, Danielle Dick, Jennifer E Lansford, Gregory S Pettit, Kenneth A Dodge
The current study used data from two longitudinal samples to test whether self-regulation, depressive symptoms, and aggression/antisociality were mediators in the relation between a polygenic score indexing serotonin (5-HT) functioning and alcohol use in adolescence. The results from an independent genome-wide association study of 5-hydroxyindoleacetic acid in the cerebrospinal fluid were used to create 5-HT polygenic risk scores. Adolescents and/or parents reported on adolescents' self-regulation (Time 1), depressive symptoms (Time 2), aggression/antisociality (Time 2), and alcohol use (Time 3)...
May 23, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28534451/genetic-moderation-of-multiple-pathways-linking-early-cumulative-socioeconomic-adversity-and-young-adults-cardiometabolic-disease-risk
#11
Kandauda A S Wickrama, Tae Kyoung Lee, Catherine Walker O'Neal
Recent research suggests that psychosocial resources and life stressors are mediating pathways explaining socioeconomic variation in young adults' health risks. However, less research has examined both these pathways simultaneously and their genetic moderation. A nationally representative sample of 11,030 respondents with prospective data collected over 13 years from the National Study of Adolescent to Adult Health was examined. First, the association between early cumulative socioeconomic adversity and young adults' (ages 25-34) cardiometabolic disease risk, as measured by 10 biomarkers, through psychosocial resources (educational attainment) and life stressors (accelerated transition to adulthood) was examined...
May 23, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28534314/rapid-molecular-sexing-of-three-spined-sticklebacks-gasterosteus-aculeatus-l-based-on-large-y-chromosomal-insertions
#12
Theo C M Bakker, Thomas Giger, Joachim G Frommen, Carlo R Largiadèr
There is a need for rapid and reliable molecular sexing of three-spined sticklebacks, Gasterosteus aculeatus, the supermodel species for evolutionary biology. A DNA region at the 5' end of the sex-linked microsatellite Gac4202 was sequenced for the X chromosome of six females and the Y chromosome of five males from three populations. The Y chromosome contained two large insertions, which did not recombine with the phenotype of sex in a cross of 322 individuals. Genetic variation (SNPs and indels) within the insertions was smaller than on flanking DNA sequences...
May 22, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#13
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28534024/cancer-immunoprevention-and-public-health
#14
REVIEW
Sandeep K Singh, Mehmet Tevfik Dorak
The power of cancer immune surveillance has been documented beyond doubt, and the successful exploitation of immune response to cancer has started a new era in the war against cancer. Cancer biologists have recognized immunoevasion as an emerging hallmark in addition to the six hallmarks of cancer. Besides the natural connection between the immune system and cancer development, most established environmental risk factors are now known to interfere with immune surveillance mechanisms. Genetic variations regulating immunity may also modulate cancer susceptibility, but evidence for this is currently limited...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28533786/high-density-linkage-map-construction-and-mapping-of-yield-trait-qtls-in-maize-zea-mays-using-the-genotyping-by-sequencing-gbs-technology
#15
Chengfu Su, Wei Wang, Shunliang Gong, Jinghui Zuo, Shujiang Li, Shizhong Xu
Increasing grain yield is the ultimate goal for maize breeding. High resolution quantitative trait loci (QTL) mapping can help us understand the molecular basis of phenotypic variation of yield and thus facilitate marker assisted breeding. The aim of this study is to use genotyping-by-sequencing (GBS) for large-scale SNP discovery and simultaneous genotyping of all F2 individuals from a cross between two varieties of maize that are in clear contrast in yield and related traits. A set of 199 F2 progeny derived from the cross of varieties SG-5 and SG-7 were generated and genotyped by GBS...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28533660/genes-emotions-and-gut-microbiota-the-next-frontier-for-the-gastroenterologist
#16
REVIEW
Arturo Panduro, Ingrid Rivera-Iñiguez, Maricruz Sepulveda-Villegas, Sonia Roman
Most medical specialties including the field of gastroenterology are mainly aimed at treating diseases rather than preventing them. Genomic medicine studies the health/disease process based on the interaction of the human genes with the environment. The gastrointestinal (GI) system is an ideal model to analyze the interaction between our genes, emotions and the gut microbiota. Based on the current knowledge, this mini-review aims to provide an integrated synopsis of this interaction to achieve a better understanding of the GI disorders related to bad eating habits and stress-related disease...
May 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28533463/signal-function-drives-phenotypic-and-genetic-diversity-the-effects-of-signalling-individual-identity-quality-or-behavioural-strategy
#17
REVIEW
Elizabeth A Tibbetts, Sean P Mullen, James Dale
Animal coloration is influenced by selection pressures associated with communication. During communication, signallers display traits that inform receivers and modify receiver behaviour in ways that benefit signallers. Here, we discuss how selection on signallers to convey different kinds of information influences animal phenotypes and genotypes. Specifically, we address the phenotypic and genetic consequences of communicating three different kinds of information: individual identity, behavioural strategy and quality...
July 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28533454/genomics-of-coloration-in-natural-animal-populations
#18
REVIEW
Luis M San-Jose, Alexandre Roulin
Animal coloration has traditionally been the target of genetic and evolutionary studies. However, until very recently, the study of the genetic basis of animal coloration has been mainly restricted to model species, whereas research on non-model species has been either neglected or mainly based on candidate approaches, and thereby limited by the knowledge obtained in model species. Recent high-throughput sequencing technologies allow us to overcome previous limitations, and open new avenues to study the genetic basis of animal coloration in a broader number of species and colour traits, and to address the general relevance of different genetic structures and their implications for the evolution of colour...
July 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28533441/trends-in-dna-methylation-with-age-replicate-across-diverse-human-populations
#19
Shyamalika Gopalan, Oana Carja, Maud Fagny, Etienne Patin, Justin W Myrick, Lisa M McEwen, Sarah M Mah, Michael S Kobor, Alain Froment, Marcus W Feldman, Lluis Quintana-Murci, Brenna M Henn
Aging is associated with widespread changes in genome-wide patterns of DNA methylation. Thousands of CpG sites whose tissue-specific methylation levels are strongly correlated with chronological age have been previously identified. However, the majority of these studies have focused primarily on cosmopolitan populations living in the developed world; it is not known if age-related patterns of DNA methylation at these loci are similar across a broad range of human genetic and ecological diversity. We investigated genome-wide methylation patterns using saliva- and whole blood-derived DNA from two traditionally hunting and gathering African populations: the Baka of the western Central African rainforest and the ≠Khomani San of the South African Kalahari Desert...
May 22, 2017: Genetics
https://www.readbyqxmd.com/read/28533356/loss-of-function-mutations-in-the-cables1-gene-are-a-novel-cause-of-cushing-s-disease
#20
Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya Lodish, Nathan Pankratz, Aurélio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M Kay, Aggeliki Dimopoulou, Stephane Gaillard, Mario Neou, Jerome Bertherat, Guillaume Assié, Chiara Villa, James L Mills, Jacques Drouin, Constantine A Stratakis
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations...
May 22, 2017: Endocrine-related Cancer
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