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https://www.readbyqxmd.com/read/28103510/exo-organoplasty-interventions-a-brief-review-of-past-present-and-future-directions-for-advance-heart-failure-management
#1
REVIEW
Waqas Nawaz, Farhan Ullah Khan, Muhammad Zahid Khan, Wang Gang, Mengqi Yang, Xiaoqian Liao, Li Zhang, Awais Ullah Ihsan, Amjad Khan, Lei Han, Xiaohui Zhou
Heart failure (HF) is a debilitating disease in which abnormal function of the heart leads to imbalance of blood demand to tissues and organs. The pathogenesis of HF is very complex and various factors can contribute including myocardial infarction, ischemia, hypertension and genetic cardiomyopathies. HF is the leading cause of death and its prevalence is expected to increase in parallel with the population age. Different kind of therapeutic approaches including lifestyle modification, medication and pacemakers are used for HF patients in NYHA I-III functional class...
January 16, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28103497/host-microbiota-interactions-epigenomic-regulation
#2
REVIEW
Vivienne Woo, Theresa Alenghat
The coevolution of mammalian hosts and their commensal microbiota has led to the development of complex symbiotic relationships between resident microbes and mammalian cells. Epigenomic modifications enable host cells to alter gene expression without modifying the genetic code, and therefore represent potent mechanisms by which mammalian cells can transcriptionally respond, transiently or stably, to environmental cues. Advances in genome-wide approaches are accelerating our appreciation of microbial influences on host physiology, and increasing evidence highlights that epigenomics represent a level of regulation by which the host integrates and responds to microbial signals...
January 16, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28103408/functional-planning-units-for-the-management-of-an-endangered-brazilian-titi-monkey
#3
Sidney F Gouveia, João Pedro Souza-Alves, Bruno B de Souza, Raone Beltrão-Mendes, Leandro Jerusalinsky, Stephen F Ferrari
Conservation practices in the tropics often rely on the data available for a few, better-known species and the adoption of an appropriate spatial scale. By defining a set of landscape units that account for critical aspects of the focal species, the information available on these conservation targets can support regional conservation policies. Here, we define and classify adjacent landscapes, termed planning units, to orientate management decisions within and among these landscapes, which are occupied by an endangered flagship primate species (Coimbra-Filho's titi monkey, Callicebus coimbrai) from eastern Brazil...
January 19, 2017: American Journal of Primatology
https://www.readbyqxmd.com/read/28103318/static-and-evolving-norovirus-genotypes-implications-for-epidemiology-and-immunity
#4
Gabriel I Parra, R Burke Squires, Consolee K Karangwa, Jordan A Johnson, Cara Lepore, Stanislav V Sosnovtsev, Kim Y Green
Noroviruses are major pathogens associated with acute gastroenteritis worldwide. Their RNA genomes are diverse, with two major genogroups (GI and GII) comprised of at least 28 genotypes associated with human disease. To elucidate mechanisms underlying norovirus diversity and evolution, we used a large-scale genomics approach to analyze human norovirus sequences. Comparison of over 2000 nearly full-length ORF2 sequences representing most of the known GI and GII genotypes infecting humans showed a limited number (≤5) of distinct intra-genotypic variants within each genotype, with the exception of GII...
January 19, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#5
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28103238/weak-genetic-structure-in-northern-african-dromedary-camels-reflects-their-unique-evolutionary-history
#6
Youcef Amine Cherifi, Suheil Bechir Semir Gaouar, Rosangela Guastamacchia, Khalid Ahmed El-Bahrawy, Asmaa Mohammed Aly Abushady, Abdoallah Aboelnasr Sharaf, Derradji Harek, Giovanni Michele Lacalandra, Nadhira Saïdi-Mehtar, Elena Ciani
Knowledge on genetic diversity and structure of camel populations is fundamental for sustainable herd management and breeding program implementation in this species. Here we characterized a total of 331 camels from Northern Africa, representative of six populations and thirteen Algerian and Egyptian geographic regions, using 20 STR markers. The nineteen polymorphic loci displayed an average of 9.79 ± 5.31 alleles, ranging from 2 (CVRL8) to 24 (CVRL1D). Average He was 0.647 ± 0.173. Eleven loci deviated significantly from Hardy-Weinberg proportions (P<0...
2017: PloS One
https://www.readbyqxmd.com/read/28103232/a-model-of-compound-heterozygous-loss-of-function-alleles-is-broadly-consistent-with-observations-from-complex-disease-gwas-datasets
#7
Jaleal S Sanjak, Anthony D Long, Kevin R Thornton
The genetic component of complex disease risk in humans remains largely unexplained. A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate population genetic processes to the maintenance of genetic variation for quantitative traits may suggest profitable avenues for future experimental design. Here we use forward simulation to model a genomic region evolving under a balance between recurrent deleterious mutation and Gaussian stabilizing selection...
January 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28103198/harmonious-genetic-clustering
#8
Faliang Huang, Xuelong Li, Shichao Zhang, Jilian Zhang
To automatically determine the number of clusters and generate more quality clusters while clustering data samples, we propose a harmonious genetic clustering algorithm, named HGCA, which is based on harmonious mating in eugenic theory. Different from extant genetic clustering methods that only use fitness, HGCA aims to select the most suitable mate for each chromosome and takes into account chromosomes gender, age, and fitness when computing mating attractiveness. To avoid illegal mating, we design three mating prohibition schemes, i...
January 5, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28103060/a-new-algorithm-using-the-non-dominated-tree-to-improve-non-dominated-sorting
#9
Patrik Gustavsson, Anna Syberfeldt
Non-dominated sorting is a technique often used in evolutionary algorithms to determine the quality of solutions in a population. The most common algorithm is the Fast Non-dominated Sort (FNS). This algorithm, however, has the drawback that its performance deteriorates when the population size grows. The same drawback applies also to other non-dominating sorting algorithms such as the Efficient Non-dominated Sort with Binary Strategy (ENS-BS). An algorithm suggested to overcome this drawback is the Divide-and-Conquer Non-dominated Sort (DCNS) which works well on a limited number of objectives but deteriorates when the number of objectives grows...
January 19, 2017: Evolutionary Computation
https://www.readbyqxmd.com/read/28102915/transgenerational-effects-alter-plant-defense-and-resistance-in-nature
#10
Jack Colicchio
Trichomes, or leaf hairs, are epidermal extensions that take a variety of forms and perform many functions in plants, including herbivore defense. In this study, I document genetically determined variation, within-generation plasticity, and a direct role of trichomes in herbivore defense for Mimulus guttatus. After establishing the relationship between trichomes and herbivory, I test for transgenerational effects of wounding on trichome density and herbivore resistance. Patterns of inter-annual variation in herbivore density and the high cost of plant defense makes plant-herbivore interactions a system in which transgenerational phenotypic plasticity (TPP) is apt to evolve...
January 19, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28102888/genetic-polymorphisms-in-estrogen-metabolic-pathway-associated-with-risks-of-alzheimer-s-disease-evidence-from-a-southern-chinese-population
#11
Lu Hua Chen, Yan Hui Fan, Patrick Yu Ping Kao, Deborah Tip Yin Ho, Joyce Cheuk Tung Ha, Leung Wing Chu, You-Qiang Song
OBJECTIVES: To investigate whether genetic variations on the estrogen metabolic pathway would be associated with risk of Alzheimer's disease (AD). DESIGN: Cross-sectional study. SETTING: Individuals were recruited at the Memory Clinic, Queen Mary Hospital, Hong Kong. PARTICIPANTS: Chinese individuals with (n = 426) and without (n = 350) AD. MEASUREMENTS: All subjects underwent a standardized cognitive assessment and genotyping of four candidate genes on the estrogen metabolic pathway (estrogen receptor α gene (ESR1), estrogen receptor β gene (ESR2), cytochrome P450 19A1 gene (CYP19A1), cytochrome P450 11A1 gene (CYP11A1))...
January 19, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28102566/annual-research-review-understudied-populations-within-the-autism-spectrum-current-trends-and-future-directions-in-neuroimaging-research
#12
REVIEW
Allison Jack, Kevin A Pelphrey
BACKGROUND: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal autism (ASD + MV) are understudied generally, and especially in the domain of neuroimaging. However, neuroimaging methods are a potentially powerful tool for understanding the etiology of these ASD subtypes...
January 19, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#13
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28102463/marked-differences-of-haplotype-tagging-snp-distribution-linkage-and-haplotype-profile-of-apoa5-gene-in-roma-population-samples
#14
Katalin Sumegi, Balazs Duga, Bela I Melegh, Zsolt Banfai, Erzsebet Kovesdi, Anita Maasz, Bela Melegh
Roma people are underprivileged, neglected population worldwide, with severe healthcare problems. They have significantly increased prevalence of cardiovascular morbidity, presumably related to their poor social status, alcohol consumption and smoking habits. Assuming that genetic background also plays a role in their susceptibility for cardiovascular diseases, we hypothesized that APOA5 gene polymorphisms, an important role-player in lipid metabolism and in the development of metabolic syndrome and cardio/cerebrovascular events, may also be involved...
January 19, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28102303/panmixia-and-dispersal-from-the-mediterranean-basin-to-macaronesian-islands-of-a-macrolichen-species
#15
David Alors, Francesco Dal Grande, Paloma Cubas, Ana Crespo, Imke Schmitt, M Carmen Molina, Pradeep K Divakar
The Mediterranean region, comprising the Mediterranean Basin and the Macaronesian Islands, represents a center of diversification for many organisms. The genetic structure and connectivity of mainland and island microbial populations has been poorly explored, in particular in the case of symbiotic fungi. Here we investigated genetic diversity and spatial structure of the obligate outcrossing lichen-forming fungus Parmelina carporrhizans in the Mediterranean region. Using eight microsatellite and mating-type markers we showed that fungal populations are highly diverse but lack spatial structure...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102248/tracing-the-peopling-of-the-world-through-genomics
#16
Rasmus Nielsen, Joshua M Akey, Mattias Jakobsson, Jonathan K Pritchard, Sarah Tishkoff, Eske Willerslev
Advances in the sequencing and the analysis of the genomes of both modern and ancient peoples have facilitated a number of breakthroughs in our understanding of human evolutionary history. These include the discovery of interbreeding between anatomically modern humans and extinct hominins; the development of an increasingly detailed description of the complex dispersal of modern humans out of Africa and their population expansion worldwide; and the characterization of many of the genetic adaptions of humans to local environmental conditions...
January 18, 2017: Nature
https://www.readbyqxmd.com/read/28102232/aetiology-and-management-of-hereditary-aortopathy
#17
REVIEW
Aline Verstraeten, Ilse Luyckx, Bart Loeys
Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals. Gene identification in both syndromic and nonsyndromic TAA is proceeding at a rapid pace and has already pinpointed >20 genes associated with familial TAA risk...
January 19, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28102223/global-and-local-selection-acting-on-the-pathogen-stenotrophomonas-maltophilia-in-the-human-lung
#18
Hattie Chung, Tami D Lieberman, Sara O Vargas, Kelly B Flett, Alexander J McAdam, Gregory P Priebe, Roy Kishony
Bacterial populations diversify during infection into distinct subpopulations that coexist within the human body. Yet, it is unknown to what extent subpopulations adapt to location-specific selective pressures as they migrate and evolve across space. Here we identify bacterial genes under local and global selection by testing for spatial co-occurrence of adaptive mutations. We sequence 552 genomes of the pathogen Stenotrophomonas maltophilia across 23 sites of the lungs from a patient with cystic fibrosis. We show that although genetically close isolates colocalize in space, distant lineages with distinct phenotypes separated by adaptive mutations spread throughout the lung, suggesting global selective pressures...
January 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#19
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28102039/a-dispermic-chimerism-detected-in-a-taiwanese-potential-unrelated-hematopoietic-stem-cell-donor
#20
E K L Yang, S G E Marsh, P-Y Chen, C-P Chen, S-P Chen, P Y Lin
Chimerism is defined as the presence of 2 or more than 1 genetically distinct cell populations in an organism. Dispermic chimeras are derived from the fertilization of 1 or 2 matured nuclei by 2 sperms. We here report detection of a healthy and phenotypically normal female with normal ABO red blood cell typing in whom dispermic chimerism was suspected after 3 alleles were identified at multiple human leukocyte antigen (HLA) loci using molecular HLA analysis. Molecular HLA typing showed the donor to have 3 HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 alleles in blood, saliva and nail samples...
February 2017: HLA
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