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https://www.readbyqxmd.com/read/27925703/are-first-trimester-nuchal-septations-independent-risk-factors-for-chromosomal-anomalies
#1
Lauren M Mack, Wesley Lee, Joan M Mastrobattista, Michael A Belfort, Ignatia B Van den Veyver, Alireza A Shamshirsaz, Rodrigo Ruano, Magdalena Sanz Cortes, Andres Espinoza, Arame Thiam Diouf, Jimmy Espinoza
OBJECTIVES: There is conflicting information regarding the role of nuchal septations during first-trimester genetic screening. This study was designed to determine whether nuchal septations are risk factors for chromosomal anomalies, independent of increased nuchal translucency (NT), in the first trimester of pregnancy. METHODS: This retrospective cohort study included all women who underwent first-trimester genetic screening between November 2011 and December 2014...
November 28, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27925140/tea-consumption-reduces-the-incidence-of-neurocognitive-disorders-findings-from-the-singapore-longitudinal-aging-study
#2
L Feng, M-S Chong, W-S Lim, Q Gao, M S Nyunt, T-S Lee, S L Collinson, T Tsoi, E-H Kua, T-P Ng
OBJECTIVES: To examine the relationships between tea consumption habits and incident neurocognitive disorders (NCD) and explore potential effect modification by gender and the apolipoprotein E (APOE) genotype. DESIGN: Population-based longitudinal study. SETTING: The Singapore Longitudinal Aging Study (SLAS). PARTICIPANTS: 957 community-living Chinese elderly who were cognitively intact at baseline. MEASUREMENTS: We collected tea consumption information at baseline from 2003 to 2005 and ascertained incident cases of neurocognitive disorders (NCD) from 2006 to 2010...
2016: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/27924949/genetic-evidence-for-an-east-asian-origin-of-chinese-muslim-populations-dongxiang-and-hui
#3
Hong-Bing Yao, Chuan-Chao Wang, Xiaolan Tao, Lei Shang, Shao-Qing Wen, Bofeng Zhu, Longli Kang, Li Jin, Hui Li
There is a long-going debate on the genetic origin of Chinese Muslim populations, such as Uygur, Dongxiang, and Hui. However, genetic information for those Muslim populations except Uygur is extremely limited. In this study, we investigated the genetic structure and ancestry of Chinese Muslims by analyzing 15 autosomal short tandem repeats in 652 individuals from Dongxiang, Hui, and Han Chinese populations in Gansu province. Both genetic distance and Bayesian-clustering methods showed significant genetic homogeneity between the two Muslim populations and East Asian populations, suggesting a common genetic ancestry...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924528/mycotoxins-an-underhand-food-problem
#4
Antonio Moretti, Antonio F Logrieco, Antonia Susca
Among the food safety issues, the occurrence of fungal species able to produce toxic metabolites on the agro-food products has acquired a general attention. These compounds, the mycotoxins, generally provided of low molecular weight, are the result of the secondary metabolism of the toxigenic fungi. They may have toxic activity toward the plants, but mostly represent a serious risk for human and animal health worldwide, since they can be accumulated on many final crop products and they have a broad range of toxic biological activities...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924526/the-p-r151c-polymorphism-in-mc1r-gene-modifies-the-age-of-onset-in-spanish-huntington-s-disease-patients
#5
Gemma Tell-Marti, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Ariadna Segu-Roig, Miriam Potrony, Celia Badenas, Victoria Alvarez, José M Millán, María José Trujillo-Tiebas, María A Ramos-Arroyo, Montserrat Milà, Susana Puig
The expansion of CAG repeats (≥36 CAG) in the HTT gene is the only known genetic cause of Huntington's disease (HD) and the main determinant of the course of the disease. The length of the expanded CAG repeats correlates inversely with the age of onset (AOO) but does not completely determine it. We investigated the role of the melanocortin 1 receptor (MC1R) gene as a modifier factor of AOO in 600 HD patients from Spain. We sequenced the entire region of the MC1R gene and analyzed all the nonsynonymous MC1R genetic variants with a minor allele frequency of at least 0...
December 6, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27924125/evaluation-of-genetic-diversity-of-clinacanthus-nutans-acanthaceaea-using-rapd-issr-and-ramp-markers
#6
Noor Zafirah Ismail, Hasni Arsad, Mohammed Razip Samian, Abdul Hafiz Ab Majid, Mohammad Razak Hamdan
Three polymerase chain reaction (PCR) techniques were compared to analyse the genetic diversity of Clinacanthus nutans eight populations in the northern region of Peninsular Malaysia. The PCR techniques were random amplified polymorphic deoxyribonucleic acids (RAPD), inter-simple sequence repeats (ISSR) and random amplified microsatellite polymorphisms (RAMP). Leaf genomic DNA was PCR amplified using 17 RAPD, 8 ISSR and 136 RAMP primers . However, only 10 RAPD primers, 5 ISSR primers and 37 RAMP primers produced reproducible bands...
October 2016: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
https://www.readbyqxmd.com/read/27924043/arapheno-a-public-database-for-arabidopsis-thaliana-phenotypes
#7
Ümit Seren, Dominik Grimm, Joffrey Fitz, Detlef Weigel, Magnus Nordborg, Karsten Borgwardt, Arthur Korte
Natural genetic variation makes it possible to discover evolutionary changes that have been maintained in a population because they are advantageous. To understand genotype-phenotype relationships and to investigate trait architecture, the existence of both high-resolution genotypic and phenotypic data is necessary. Arabidopsis thaliana is a prime model for these purposes. This herb naturally occurs across much of the Eurasian continent and North America. Thus, it is exposed to a wide range of environmental factors and has been subject to natural selection under distinct conditions...
October 24, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27924022/expanded-national-database-collection-and-data-coverage-in-the-findbase-worldwide-database-for-clinically-relevant-genomic-variation-allele-frequencies
#8
Emmanouil Viennas, Angeliki Komianou, Clint Mizzi, Maja Stojiljkovic, Christina Mitropoulou, Juha Muilu, Mauno Vihinen, Panagiota Grypioti, Styliani Papadaki, Cristiana Pavlidis, Branka Zukic, Theodora Katsila, Peter J van der Spek, Sonja Pavlovic, Giannis Tzimas, George P Patrinos
FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leading mostly to monogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics...
October 18, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27923919/quorum-sensing-coordinates-cooperative-expression-of-pyruvate-metabolism-genes-to-maintain-a-sustainable-environment-for-population-stability
#9
Lisa A Hawver, Jennifer M Giulietti, James D Baleja, Wai-Leung Ng
: Quorum sensing (QS) is a microbial cell-cell communication system that regulates gene expression in response to population density to coordinate collective behaviors. Yet, the role of QS in resolving the stresses caused by the accumulation of toxic metabolic by-products at high cell density is not well defined. In response to cell density, QS could be involved in reprogramming of the metabolic network to maintain population stability. Using unbiased metabolomics, we discovered that Vibrio cholerae mutants genetically locked in a low cell density (LCD) QS state are unable to alter the pyruvate flux to convert fermentable carbon sources into neutral acetoin and 2,3-butanediol molecules to offset organic acid production...
December 6, 2016: MBio
https://www.readbyqxmd.com/read/27923913/a-tgf%C3%AE-mir-182-brca1-axis-controls-the-mammary-differentiation-hierarchy
#10
Haydeliz Martinez-Ruiz, Irineu Illa-Bochaca, Coral Omene, Douglas Hanniford, Qi Liu, Eva Hernando, Mary Helen Barcellos-Hoff
Maintenance of mammary functional capacity during cycles of proliferation and regression depends on appropriate cell fate decisions of mammary progenitor cells to populate an epithelium consisting of secretory luminal cells and contractile myoepithelial cells. It is well established that transforming growth factor-β (TGFβ) restricts mammary epithelial cell proliferation and that sensitivity to TGFβ is decreased in breast cancer. We show that TGFβ also exerts control of mammary progenitor self-renewal and lineage commitment decisions by stringent regulation of breast cancer associated 1 (BRCA1), which controls stem cell self-renewal and lineage commitment...
December 6, 2016: Science Signaling
https://www.readbyqxmd.com/read/27923556/moniezia-benedeni-and-moniezia-expansa-are-distinct-cestode-species-based-on-complete-mitochondrial-genomes
#11
Aijiang Guo
Moniezia spp. parasitize the intestines of ruminants, causing monieziasis. In this study, the complete mitochondrial (mt) genomes of M. benedeni and M. expansa have been determined, characterized and employed to test the hypothesis that M. benedeni and M. expansa are distinct species by phylogenetic analysis based on the concatenated amino acid sequences derived from 12 protein-coding genes, inferred with Bayesian and Maximum-likelihood methods. The complete mt genomes of M. benedeni and M. expansa were 13,958bp and 13,934bp in size, respectively...
December 3, 2016: Acta Tropica
https://www.readbyqxmd.com/read/27923409/geographical-landscape-and-host-associations-of-trypanosoma-cruzi-dtus-and-lineages
#12
Amaia Izeta-Alberdi, Carlos N Ibarra-Cerdeña, David A Moo-Llanes, Janine M Ramsey
BACKGROUND: The evolutionary history and ecological associations of Trypanosoma cruzi, the need to identify genetic markers that can distinguish parasite subpopulations, and understanding the parasite's evolutionary and selective processes have been the subject of a significant number of publications since 1998, the year when the first DNA sequence analysis for the species was published. METHODS: The current analysis systematizes and re-analyzes this original research, focusing on critical methodological and analytical variables and results that have given rise to interpretations of putative patterns of genetic diversity and diversification of T...
December 7, 2016: Parasites & Vectors
https://www.readbyqxmd.com/read/27923399/ccaat-enhancer-binding-protein-%C3%AE-is-required-for-satellite-cell-self-renewal
#13
Neena Lala-Tabbert, Hamood AlSudais, François Marchildon, Dechen Fu, Nadine Wiper-Bergeron
BACKGROUND: Postnatal growth and repair of skeletal muscle relies upon a population of quiescent muscle precursor cells, called satellite cells that can be activated to proliferate and differentiate into new myofibers, as well as self-renew to replenish the satellite cell population. The balance between differentiation and self-renewal is critical to maintain muscle tissue homeostasis, and alterations in this equilibrium can lead to chronic muscle degeneration. The transcription factor CCAAT/enhancer binding protein beta (C/EBPβ) is expressed in Pax7(+) satellite cells of healthy muscle and is downregulated during myoblast differentiation...
December 7, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27923053/different-evolutionary-paths-to-complexity-for-small-and-large-populations-of-digital-organisms
#14
Thomas LaBar, Christoph Adami
A major aim of evolutionary biology is to explain the respective roles of adaptive versus non-adaptive changes in the evolution of complexity. While selection is certainly responsible for the spread and maintenance of complex phenotypes, this does not automatically imply that strong selection enhances the chance for the emergence of novel traits, that is, the origination of complexity. Population size is one parameter that alters the relative importance of adaptive and non-adaptive processes: as population size decreases, selection weakens and genetic drift grows in importance...
December 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27922734/population-pharmacokinetics-of-ceritinib-in-adult-patients-with-tumors-characterized-by-genetic-abnormalities-in-anaplastic-lymphoma-kinase
#15
Ying Hong, Vanessa Q Passos, Pai-Hsi Huang, Yvonne Y Lau
Ceritinib is a second-generation selective and potent oral anaplastic lymphoma kinase (ALK) inhibitor approved for ALK-positive advanced non-small cell lung cancer previously treated with crizotinib. Population pharmacokinetic (PK) analysis was performed to describe the PK of ceritinib and was used to evaluate the covariate effects on systemic exposure at its label dose (750 mg orally once daily). Ceritinib concentration-time data from 4 clinical studies were described by a 1-compartment model with delayed first-order absorption and time-dependent elimination...
December 6, 2016: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27922637/a-human-carboxypeptidase-e-nf-%C3%AE-1-gene-mutation-in-an-alzheimer-s-disease-patient-leads-to-dementia-and-depression-in-mice
#16
Y Cheng, N X Cawley, T Yanik, S R K Murthy, C Liu, F Kasikci, D Abebe, Y P Loh
Patients with Alzheimer's disease (AD), a common dementia among the aging population, often also suffer from depression. This comorbidity is poorly understood. Although most forms of AD are not genetically inherited, we have identified a new human mutation in the carboxypeptidase E (CPE)/neurotrophic factor-α1 (NF-α1) gene from an AD patient that caused memory deficit and depressive-like behavior in transgenic mice. This mutation consists of three adenosine inserts, introducing nine amino acids, including two glutamines into the mutant protein, herein called CPE-QQ...
December 6, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27922606/otto-a-new-strategy-to-extract-mental-disease-relevant-combinations-of-gwas-hits-from-individuals
#17
H Ehrenreich, M Mitjans, S Van der Auwera, T P Centeno, M Begemann, H J Grabe, S Bonn, K-A Nave
Despite high heritability of schizophrenia, genome-wide association studies (GWAS) have not yet revealed distinct combinations of single-nucleotide polymorphisms (SNPs), relevant for mental disease-related, quantifiable behavioral phenotypes. Here we propose an individual-based model to use genome-wide significant markers for extracting first genetic signatures of such behavioral continua. 'OTTO' (old Germanic=heritage) marks an individual characterized by a prominent phenotype and a particular load of phenotype-associated risk SNPs derived from GWAS that likely contributed to the development of his personal mental illness...
December 6, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27922604/common-variants-on-2p16-1-6p22-1-and-10q24-32-are-associated-with-schizophrenia-in-han-chinese-population
#18
H Yu, H Yan, J Li, Z Li, X Zhang, Y Ma, L Mei, C Liu, L Cai, Q Wang, F Zhang, N Iwata, M Ikeda, L Wang, T Lu, M Li, H Xu, X Wu, B Liu, J Yang, K Li, L Lv, X Ma, C Wang, L Li, F Yang, T Jiang, Y Shi, T Li, D Zhang, W Yue
Many schizophrenia susceptibility loci have been identified through genome-wide association studies (GWASs) in European populations. However, until recently, schizophrenia GWASs in non-European populations were limited to small sample sizes and have yielded few loci associated with schizophrenia. To identify genetic risk variations for schizophrenia in the Han Chinese population, we performed a two-stage GWAS of schizophrenia comprising 4384 cases and 5770 controls, followed by independent replications of 13 single-nucleotide polymorphisms in an additional 4339 schizophrenia cases and 7043 controls of Han Chinese ancestry...
December 6, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27922600/vibrio-crassostreae-a-benign-oyster-colonizer-turned-into-a-pathogen-after-plasmid-acquisition
#19
Maxime Bruto, Adèle James, Bruno Petton, Yannick Labreuche, Sabine Chenivesse, Marianne Alunno-Bruscia, Martin F Polz, Frédérique Le Roux
Vibrios are frequently associated with oyster mortality; however whether they are the primary causative agent or secondary opportunistic colonizers is not well understood. Here we combine analysis of natural infection dynamics, population genomics and molecular genetics to ask (i) to what extent oysters are passively colonized by Vibrio population present in the surrounding water, (ii) how populations turn over during pathogenicity events and (iii) what genetic factors are responsible for pathogenicity. We identified several populations of Vibrio preferentially associated with oyster tissues...
December 6, 2016: ISME Journal
https://www.readbyqxmd.com/read/27922269/genomic-study-of-the-type-ivc-secretion-system-in-clostridium-difficile-understanding-c-difficile-evolution-via-horizontal-gene-transfer
#20
Wen Zhang, Ying Cheng, Pengcheng Du, Yuanyuan Zhang, Hongbing Jia, Xianping Li, Jing Wang, Na Han, Yujun Qiang, Chen Chen, Jinxing Lu
Clostridium difficile, the etiological agent of Clostridium difficile infection (CDI), is a gram-positive, spore-forming bacillus that is responsible for ∼20% of antibiotic-related cases of diarrhea and nearly all cases of pseudomembranous colitis. Previous data have shown that a substantial proportion (11%) of the C. difficile genome consists of mobile genetic elements, including seven conjugative transposons. However, the mechanism underlying the formation of a mosaic genome in C. difficile is unknown. The type-IV secretion system (T4SS) is the only secretion system known to transfer DNA segments among bacteria...
August 30, 2016: Genome Génome / Conseil National de Recherches Canada
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