keyword
MENU ▼
Read by QxMD icon Read
search

Genetics

keyword
https://www.readbyqxmd.com/read/28340513/mendelian-randomisation-implicates-hyperlipidaemia-as-a-risk-factor-for-colorectal-cancer
#1
Henry Rodriguez-Broadbent, Philip J Law, Amit Sud, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Samuli Ripatti, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Michael N Passarelli, Jane C Figueiredo, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steven Gallinger, David Conti, Fred Schumacher, Graham Casey, Lauri A Aaltonen, Jeremy P Cheadle, Ian P Tomlinson, Malcolm G Dunlop, Richard S Houlston
While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here we apply a Mendelian randomisation (MR) analysis to examine the potential causal relationship between lipid traits and CRC risk. We used single nucleotide polymorphisms (SNPs) associated with blood levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL) as instrumental variables (IV). We calculated MR estimates for each risk factor with CRC using SNP-CRC associations from 9,254 cases and 18,386 controls...
March 24, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28340408/ongoing-evolution-of-pseudomonas-aeruginosa-pao1-sublines-complicates-studies-of-dna-damage-repair-and-tolerance
#2
Julia Sidorenko, Tatjana Jatsenko, Maia Kivisaar
Sublines of the major P. aeruginosa reference strain PAO1 are derivatives of the original PAO1 isolate, which are maintained in laboratories worldwide. These sublines display substantial genomic and phenotypic variation due to ongoing microevolution. Here, we examined four sublines, MPAO1, PAO1-L, PAO1-DSM and PAO1-UT, originated from different laboratories, and six DNA polymerase-deficient mutants from the P. aeruginosa MPAO1 transposon library for their employment in elucidation of DNA damage repair and tolerance mechanisms in P...
March 16, 2017: Mutation Research
https://www.readbyqxmd.com/read/28340391/optimization-of-the-marinelli-beaker-dimensions-using-genetic-algorithm
#3
Seyed Mehrdad Zamzamian, Seyed Abolfazl Hosseini, Mohammad Samadfam
A computational code, based on the genetic algorithm and MCNPX version 2.6 code was developed and used to investigate the effects of some important parameters of HPGe detector (such as Al cap thickness, dead-layer thickness and Ge hole size) on optimum dimensions of marinelli beaker. In addition, the effects of detector material on optimal beaker dimensions were also investigated. Finally, the optimized beaker dimensions at various beaker volumes (300, 500, 700, 1000 and 1500 cm(3)) were determined for some conventional Ge detectors with different crystal sizes (16 sizes)...
March 21, 2017: Journal of Environmental Radioactivity
https://www.readbyqxmd.com/read/28340382/the-bdnfval66met-polymorphism-and-individual-differences-in-temperament-in-4-month-old-infants-a-pilot-study
#4
Lorenzo Giusti, Livio Provenzi, Daniela Tavian, Sara Missaglia, Niccolò Butti, Rosario Montirosso
Individual differences in infants' temperament are under genetic control. We investigated the association between brain-derived-neurotrophic-factor (BDNFval66met) polymorphism and temperament in 63 full-term infants. Met-carriers (N=25) had lower Regulatory capacities compared to val-homozygotes (N=38). These findings suggest that the BDNF polymorphism affects early temperament individual differences.
March 21, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28340380/the-origin-and-evolution-of-the-term-clone
#5
David P Steensma
In biology, the term "clone" is most widely used to designate genetically identical cells or organisms that are asexually descended from a common progenitor. The concept of clonality in hematology-oncology has received much attention in recent years, as the advent of next-generation sequencing platforms has provided new tools for detection of clonal populations in patients, and experiments on primary cells have provided fascinating new insights into the clonal architecture of human malignancies. The term "clone" is used more loosely by the general public to mean any close or identical copy...
March 4, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28340370/validation-of-comet-assay-in-oregon-r-and-wild-type-strains-of-drosophila-melanogaster-exposed-to-a-natural-radioactive-environment-in-brazilian-semiarid-region
#6
Cícero Jorge Verçosa, Aroldo Vieira de Moraes Filho, Ícaro Fillipe de Araújo Castro, Robson Gomes Dos Santos, Kenya Silva Cunha, Daniela de Melo E Silva, Ana Cristina Lauer Garcia, Julio Alejandro Navoni, Viviane Souza do Amaral, Claudia Rohde
Natural radiation of geological origin is a common phenomenon in Brazil, a country where radioactive agents such as uranium may be often found. As an unstable atom, uranium undergoes radioactive decay with the generation of a series of decay by-products, including radon, which may be highly genotoxic and trigger several pathological processes, among which cancer. Because it is a gas, radon may move freely between cracks and gaps in the ground, seeping upwards into the buildings and in the environment. In this study, two Drosophila melanogaster Meigen (Diptera, Drosophilidae) strains called Oregon-R and Wild (collected in a non-radioactive environment) were exposed to atmospheric radiation in the Lajes Pintadas city, in the semiarid zone of northeastern Brazil...
March 21, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28340352/human-epistatic-interaction-controls-il7r-splicing-and-increases-multiple-sclerosis-risk
#7
Gaddiel Galarza-Muñoz, Farren B S Briggs, Irina Evsyukova, Geraldine Schott-Lerner, Edward M Kennedy, Tinashe Nyanhete, Liuyang Wang, Laura Bergamaschi, Steven G Widen, Georgia D Tomaras, Dennis C Ko, Shelton S Bradrick, Lisa F Barcellos, Simon G Gregory, Mariano A Garcia-Blanco
Multiple sclerosis (MS) is an autoimmune disorder where T cells attack neurons in the central nervous system (CNS) leading to demyelination and neurological deficits. A driver of increased MS risk is the soluble form of the interleukin-7 receptor alpha chain gene (sIL7R) produced by alternative splicing of IL7R exon 6. Here, we identified the RNA helicase DDX39B as a potent activator of this exon and consequently a repressor of sIL7R, and we found strong genetic association of DDX39B with MS risk. Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340351/bedside-back-to-bench-building-bridges-between-basic-and-clinical-genomic-research
#8
Teri A Manolio, Douglas M Fowler, Lea M Starita, Melissa A Haendel, Daniel G MacArthur, Leslie G Biesecker, Elizabeth Worthey, Rex L Chisholm, Eric D Green, Howard J Jacob, Howard L McLeod, Dan Roden, Laura Lyman Rodriguez, Marc S Williams, Gregory M Cooper, Nancy J Cox, Gail E Herman, Stephen Kingsmore, Cecilia Lo, Cathleen Lutz, Calum A MacRae, Robert L Nussbaum, Jose M Ordovas, Erin M Ramos, Peter N Robinson, Wendy S Rubinstein, Christine Seidman, Barbara E Stranger, Haoyi Wang, Monte Westerfield, Carol Bult
Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340349/structure-reveals-mechanisms-of-viral-suppressors-that-intercept-a-crispr-rna-guided-surveillance-complex
#9
Saikat Chowdhury, Joshua Carter, MaryClare F Rollins, Sarah M Golden, Ryan N Jackson, Connor Hoffmann, Lyn'Al Nosaka, Joseph Bondy-Denomy, Karen L Maxwell, Alan R Davidson, Elizabeth R Fischer, Gabriel C Lander, Blake Wiedenheft
Genetic conflict between viruses and their hosts drives evolution and genetic innovation. Prokaryotes evolved CRISPR-mediated adaptive immune systems for protection from viral infection, and viruses have evolved diverse anti-CRISPR (Acr) proteins that subvert these immune systems. The adaptive immune system in Pseudomonas aeruginosa (type I-F) relies on a 350 kDa CRISPR RNA (crRNA)-guided surveillance complex (Csy complex) to bind foreign DNA and recruit a trans-acting nuclease for target degradation. Here, we report the cryo-electron microscopy (cryo-EM) structure of the Csy complex bound to two different Acr proteins, AcrF1 and AcrF2, at an average resolution of 3...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340340/selective-chemical-inhibition-of-pgc-1%C3%AE-gluconeogenic-activity-ameliorates-type-2-diabetes
#10
Kfir Sharabi, Hua Lin, Clint D J Tavares, John E Dominy, Joao Paulo Camporez, Rachel J Perry, Roger Schilling, Amy K Rines, Jaemin Lee, Marc Hickey, Melissa Bennion, Michelle Palmer, Partha P Nag, Joshua A Bittker, José Perez, Mark P Jedrychowski, Umut Ozcan, Steve P Gygi, Theodore M Kamenecka, Gerald I Shulman, Stuart L Schreiber, Patrick R Griffin, Pere Puigserver
Type 2 diabetes (T2D) is a worldwide epidemic with a medical need for additional targeted therapies. Suppression of hepatic glucose production (HGP) effectively ameliorates diabetes and can be exploited for its treatment. We hypothesized that targeting PGC-1α acetylation in the liver, a chemical modification known to inhibit hepatic gluconeogenesis, could be potentially used for treatment of T2D. Thus, we designed a high-throughput chemical screen platform to quantify PGC-1α acetylation in cells and identified small molecules that increase PGC-1α acetylation, suppress gluconeogenic gene expression, and reduce glucose production in hepatocytes...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340339/targeted-apoptosis-of-senescent-cells-restores-tissue-homeostasis-in-response-to-chemotoxicity-and-aging
#11
Marjolein P Baar, Renata M C Brandt, Diana A Putavet, Julian D D Klein, Kasper W J Derks, Benjamin R M Bourgeois, Sarah Stryeck, Yvonne Rijksen, Hester van Willigenburg, Danny A Feijtel, Ingrid van der Pluijm, Jeroen Essers, Wiggert A van Cappellen, Wilfred F van IJcken, Adriaan B Houtsmuller, Joris Pothof, Ron W F de Bruin, Tobias Madl, Jan H J Hoeijmakers, Judith Campisi, Peter L J de Keizer
The accumulation of irreparable cellular damage restricts healthspan after acute stress or natural aging. Senescent cells are thought to impair tissue function, and their genetic clearance can delay features of aging. Identifying how senescent cells avoid apoptosis allows for the prospective design of anti-senescence compounds to address whether homeostasis can also be restored. Here, we identify FOXO4 as a pivot in senescent cell viability. We designed a FOXO4 peptide that perturbs the FOXO4 interaction with p53...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340327/polymorphic-responses-of-medicago-truncatula-accessions-to-potassium-deprivation
#12
Kevin Garcia, Jean-Michel Ané
Potassium (K(+)) is an essential macronutrient for plants and the most abundant cation in cells. Due to variable K(+) availability in the environment, plants must be able to adjust their developmental, physiological and transcriptional responses. The plant development to K(+) deprivation was not well studied in legumes thus far. We recently described the first adaptation mechanisms of the model legume Medicago truncatula Jemalong A17 to long-term K(+) deprivation and analyzed these responses in the context of arbuscular mycorrhizal symbiosis...
March 24, 2017: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/28340307/genetic-diversity-analysis-of-asian-clam-corbicula-fluminea-in-the-hongze-lake-based-on-mitochondrial-cytochrome-b-gene
#13
Chuankun Zhu, Jin Li, Songguang Xie, Huaiyu Ding, Zhengjun Pan, Hui Wang, Guoliang Chang
The Asian clam Corbicula fluminea is a small bivalve with high nutritional and medical values. However, natural resources of C. fluminea have declined in many areas of China including the Hongze Lake. In this study, 119 individuals from 10 sites of this lake and 2 outgroups were analyzed using a 456 bp mitochondrial cytochrome b (cytb) gene segment. Totally, 19 polymorphic sites were detected, which defined 16 haplotypes. Polymorphism varied among the 10 populations with those at the water inlet being more polymorphic...
March 24, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28340305/the-clinical-application-of-ngs-based-snp-haplotyping-for-pgd-of-hb-h-disease
#14
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α(3.7)/αα and -(SEA)/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α(3...
March 24, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28340278/path-analysis-and-canonical-correlations-for-indirect-selection-of-jatropha-genotypes-with-higher-oil-yield
#15
L A Silva, L A Peixoto, P E Teodoro, E V Rodrigues, B G Laviola, L L Bhering
Jatropha is a species with great potential for biodiesel production, and the knowledge on how the main agronomic traits are correlated will contribute to its improvement. Therefore, the objectives of this study were to estimate the genetic parameters of the traits: plant height at 12 and 40 months, canopy projection on the row at 12 and 40 months, canopy projection between the row at 12 and 40 months, number of branches at 40 months, grain yield, and oil yield; to verify the existence of phenotypic correlation between these traits; to verify the influence of the morphological traits on oil yield by means of path analysis; and to evaluate the relationship between the productive traits in Jatropha and the morphological traits measured at different ages...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28340276/multivariate-diallel-analysis-allows-multiple-gains-in-segregating-populations-for-agronomic-traits-in-jatropha
#16
P E Teodoro, E V Rodrigues, L A Peixoto, L A Silva, B G Laviola, L L Bhering
Jatropha is research target worldwide aimed at large-scale oil production for biodiesel and bio-kerosene. Its production potential is among 1200 and 1500 kg/ha of oil after the 4th year. This study aimed to estimate combining ability of Jatropha genotypes by multivariate diallel analysis to select parents and crosses that allow gains in important agronomic traits. We performed crosses in diallel complete genetic design (3 x 3) arranged in blocks with five replications and three plants per plot. The following traits were evaluated: plant height, stem diameter, canopy projection between rows, canopy projection on the line, number of branches, mass of hundred grains, and grain yield...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28340274/regularized-quantile-regression-applied-to-genome-enabled-prediction-of-quantitative-traits
#17
M Nascimento, F F E Silva, M D V de Resende, C D Cruz, A C C Nascimento, J M S Viana, C F Azevedo, L M A Barroso
Genomic selection (GS) is a variant of marker-assisted selection, in which genetic markers covering the whole genome predict individual genetic merits for breeding. GS increases the accuracy of breeding values (BV) prediction. Although a variety of statistical models have been proposed to estimate BV in GS, few methodologies have examined statistical challenges based on non-normal phenotypic distributions, e.g., skewed distributions. Traditional GS models estimate changes in the phenotype distribution mean, i...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28340273/genetic-diversity-and-selection-of-common-bean-lines-based-on-technological-quality-and-biofortification
#18
S de M Steckling, N D Ribeiro, F D Arns, H C Mezzomo, M T D F Possobom
The development of common bean cultivars with high technological quality that are biofortified with minerals, is required to meet the demand for food with health benefits. The objectives of this study were to evaluate whether common bean genotypes differ in terms of technological and mineral biofortification traits, to study the correlations between these characters, to analyze the genetic dissimilarity of common bean genotypes, and to select superior lines for these traits. For this, 14 common bean genotypes were evaluated in experiments conducted in three growing seasons in the Rio Grande do Sul State, Brazil...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28340272/reml-blup-and-sequential-path-analysis-in-estimating-genotypic-values-and-interrelationships-among-simple-maize-grain-yield-related-traits
#19
T Olivoto, M Nardino, I R Carvalho, D N Follmann, M Ferrari, V J Szareski, A J de Pelegrin, V Q de Souza
Methodologies using restricted maximum likelihood/best linear unbiased prediction (REML/BLUP) in combination with sequential path analysis in maize are still limited in the literature. Therefore, the aims of this study were: i) to use REML/BLUP-based procedures in order to estimate variance components, genetic parameters, and genotypic values of simple maize hybrids, and ii) to fit stepwise regressions considering genotypic values to form a path diagram with multi-order predictors and minimum multicollinearity that explains the relationships of cause and effect among grain yield-related traits...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28340271/snp-detection-using-rna-sequences-of-candidate-genes-associated-with-puberty-in-cattle
#20
M M Dias, A Cánovas, C Mantilla-Rojas, D G Riley, P Luna-Nevarez, S J Coleman, S E Speidel, R M Enns, A Islas-Trejo, J F Medrano, S S Moore, M R S Fortes, L T Nguyen, B Venus, I S D P Diaz, F R P Souza, L F S Fonseca, F Baldi, L G Albuquerque, M G Thomas, H N Oliveira
Fertility traits, such as heifer pregnancy, are economically important in cattle production systems, and are therefore, used in genetic selection programs. The aim of this study was to identify single nucleotide polymorphisms (SNPs) using RNA-sequencing (RNA-Seq) data from ovary, uterus, endometrium, pituitary gland, hypothalamus, liver, longissimus dorsi muscle, and adipose tissue in 62 candidate genes associated with heifer puberty in cattle. RNA-Seq reads were assembled to the bovine reference genome (UMD 3...
March 22, 2017: Genetics and Molecular Research: GMR
keyword
keyword
1380
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"