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https://www.readbyqxmd.com/read/28816567/how-close-are-we-to-implementing-a-genetic-risk-score-for-coronary-heart-disease
#1
Katherine Beaney, Fotios Drenos, Steve E Humphries
Genome-wide association meta-analysis have now identified more than 150 loci where common variants (SNPs) are significantly associated with coronary heart disease (CHD) and CHD end points. Areas Covered: The authors review publications from their own laboratory and published recently where identified CHD risk SNPs are used in combination, and "scaled" by their effect size, to create a "weighted" Genetic risk Score (GRS), which, in combination with an individual's classical CHD risk factors, can be used to identify those at overall low, intermediate and high future risk...
August 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28815618/effect-on-gene-expression-of-three-allelic-variants-in-gata-motifs-of-abo-rhd-and-rhce-regulatory-elements
#2
Katie Fennell, Roser Hoffman, Ken Yoshida, Sadahiko Iwamoto, Lavendri Govender, Kuben Vather, Ashika Sookraj, Ute Jentsch, Chantale Pambrun, Catherine McAuley, Margaret A Keller, Gorka Ochoa-Garay
BACKGROUND: Only a few genetic variants have been reported in regulatory elements of blood group genes. Most of them affect GATA motifs, binding sites for the GATA-1 transcription factor. STUDY DESIGN AND METHODS: Samples from two patients and one donor with unusual or discrepant serology for ABO, RhD, and RhCE antigens were analyzed by DNA sequencing. Analyzed regions included the coding sequence and portions of regulatory elements. The effect of some variants on gene expression was evaluated in reporter gene assays...
August 16, 2017: Transfusion
https://www.readbyqxmd.com/read/28811388/hill-robertson-interference-reduces-genetic-diversity-on-a-young-plant-y-chromosome
#3
Josh Hough, Wei Wang, Spencer C H Barrett, Stephen I Wright
X and Y chromosomes differ in effective population size (Ne ), rates of recombination, and exposure to natural selection, all of which can affect patterns of genetic diversity. On Y chromosomes with suppressed recombination, natural selection is expected to eliminate linked neutral variation and lower the Ne of Y compared to X chromosomes or autosomes. However, female-biased sex ratios and high variance in male reproductive success can also reduce Y-linked Ne , making it difficult to infer the causes of low Y-diversity...
August 15, 2017: Genetics
https://www.readbyqxmd.com/read/28809826/high-throughput-screening-for-protein-based-inheritance-in-s-cerevisiae
#4
James S Byers, Daniel F Jarosz
The encoding of biological information that is accessible to future generations is generally achieved via changes to the DNA sequence. Long-lived inheritance encoded in protein conformation (rather than sequence) has long been viewed as paradigm-shifting but rare. The best characterized examples of such epigenetic elements are prions, which possess a self-assembling behavior that can drive the heritable manifestation of new phenotypes. Many archetypal prions display a striking N/Q-rich sequence bias and assemble into an amyloid fold...
August 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28809021/genetic-manipulation-of-the-avian-urogenital-system-using-in-ovo-electroporation
#5
Claire E Hirst, Olivier Serralbo, Katie L Ayers, Kelly N Roeszler, Craig A Smith
One of the advantages of the avian embryo as an experimental model is its in ovo development and hence accessibility for genetic manipulation. Electroporation has been used extensively in the past to study gene function in chicken and quail embryos . Readily accessible tissues such as the neural tube, somites, and limb bud, in particular, have been targeted. However, more inaccessible tissues, such as the embryonic urogenital system , have proven more challenging to study. Here, we describe the use of in ovo electroporation of TOL2 vectors or RCASBP avian viral vectors for the rapid functional analysis of genes involved in avian sex determination and urogenital development ...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28808015/a-p53-dependent-response-limits-the-viability-of-mammalian-haploid-cells
#6
Teresa Olbrich, Cristina Mayor-Ruiz, Maria Vega-Sendino, Carmen Gomez, Sagrario Ortega, Sergio Ruiz, Oscar Fernandez-Capetillo
The recent development of haploid cell lines has facilitated forward genetic screenings in mammalian cells. These lines include near-haploid human cell lines isolated from a patient with chronic myelogenous leukemia (KBM7 and HAP1), as well as haploid embryonic stem cells derived from several organisms. In all cases, haploidy was shown to be an unstable state, so that cultures of mammalian haploid cells rapidly become enriched in diploids. Here we show that the observed diploidization is due to a proliferative disadvantage of haploid cells compared with diploid cells...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28806522/development-of-a-recombinant-multifunctional-biomacromolecule-for-targeted-gene-transfer-to-prostate-cancer-cells
#7
Arash Hatefi, Zahra Karjoo, Alireza Nomani
The objective of this study was to genetically engineer a fully functional single chain fusion peptide composed of motifs from diverse biological and synthetic origins that can perform multiple tasks including DNA condensation, cell targeting, cell transfection, particle shielding from immune system and effective gene transfer to prostate tumors. To achieve the objective, a single chain biomacromolecule (vector) consisted of four repetative units of histone H2A peptide, fusogenic peptide GALA, short elastin-like peptide and PC-3 cell targeting peptide was designed...
August 14, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28804517/update-on-the-role-of-nanoliposomal-irinotecan-in-the-treatment-of-metastatic-pancreatic-cancer
#8
REVIEW
Fnu Asad Ur Rahman, Saeed Ali, Muhammad Wasif Saif
Median survival for patients with metastatic pancreatic cancer (MPC) treated with combination chemotherapeutic agents such as gemcitabine-based regimens and FOLFIRINOX is currently less than 12 months. This highlights the need for more efficacious first-line, as well as second-line therapies. Nanoliposomal irinotecan, in combination with 5-fluorouracil (5-FU)/folinic acid has recently been assessed as second-line therapy after initial gemcitabine-based therapy. It is the first, second-line treatment approved by the US Food and Drug Administration to treat patients with MPC based on results of the NAnoliPOsomaL Irinotecan (NAPOLI-1) study, which showed that this regimen significantly prolonged progression-free survival (3...
July 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28802396/host-genetics-in-susceptibility-to-and-severity-of-mycobacterial-diseases
#9
REVIEW
A S Apt, N N Logunova, T K Kondratieva
The genetic analysis of susceptibility to infections has proven to be extremely useful for identification of key cells, molecules, pathways, and genes involved in the battle between two genomes - the essence of the infectious process. This is particularly true for tuberculosis and other mycobacterial infections which traditionally attracted much attention from both immunologists and geneticists. In this short review, we observe results of genetic studies performed in human populations and in animal models and compare relative input of forward and reverse genetic approaches in our knowledge about genetic control of and immune responses to mycobacterial infections...
September 2017: Tuberculosis
https://www.readbyqxmd.com/read/28800082/complete-chloroplast-genome-sequence-and-phylogenetic-analysis-of-the-medicinal-plant-artemisia-annua
#10
Xiaofeng Shen, Mingli Wu, Baosheng Liao, Zhixiang Liu, Rui Bai, Shuiming Xiao, Xiwen Li, Boli Zhang, Jiang Xu, Shilin Chen
The complete chloroplast genome of Artemisia annua (Asteraceae), the primary source of artemisinin, was sequenced and analyzed. The A. annua cp genome is 150,995 bp, and harbors a pair of inverted repeat regions (IRa and IRb), of 24,850 bp each that separate large (LSC, 82,988 bp) and small (SSC, 18,267 bp) single-copy regions. Our annotation revealed that the A. annua cp genome contains 113 genes and 18 duplicated genes. The gene order in the SSC region of A. annua is inverted; this fact is consistent with the sequences of chloroplast genomes from three other Artemisia species...
August 11, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28797609/conservation-evo-devo-preserving-biodiversity-by-understanding-its-origins
#11
REVIEW
Calum S Campbell, Colin E Adams, Colin W Bean, Kevin J Parsons
Unprecedented rates of species extinction increase the urgency for effective conservation biology management practices. Thus, any improvements in practice are vital and we suggest that conservation can be enhanced through recent advances in evolutionary biology, specifically advances put forward by evolutionary developmental biology (i.e., evo-devo). There are strong overlapping conceptual links between conservation and evo-devo whereby both fields focus on evolutionary potential. In particular, benefits to conservation can be derived from some of the main areas of evo-devo research, namely phenotypic plasticity, modularity and integration, and mechanistic investigations of the precise developmental and genetic processes that determine phenotypes...
August 7, 2017: Trends in Ecology & Evolution
https://www.readbyqxmd.com/read/28797052/similarities-between-plant-traits-based-on-their-connection-to-underlying-gene-functions
#12
Jan-Peter Nap, Gabino F Sanchez-Perez, Aalt D J van Dijk
Understanding of phenotypes and their genetic basis is a major focus in current plant biology. Large amounts of phenotype data are being generated, both for macroscopic phenotypes such as size or yield, and for molecular phenotypes such as expression levels and metabolite levels. More insight in the underlying genetic and molecular mechanisms that influence phenotypes will enable a better understanding of how various phenotypes are related to each other. This will be a major step forward in understanding plant biology, with immediate value for plant breeding and academic plant research...
2017: PloS One
https://www.readbyqxmd.com/read/28792703/study-of-myoc-gene-mutation-in-poag-patients-in-zahedan-iran
#13
Mehrnaz Narooie-Nejad, Ava Rasouli, Mahdieh Mousavi, Mohammad R Rohani
BACKGROUND: The second cause of blindness in the world is glaucoma that begins with visual impairments and, in many cases, ends with irreversible visual loss. Primary open-angle glaucoma (POAG) is the most common type of glaucoma, which causes irreversible optic nerve damage in adults. Glaucoma shows an unknown etiology, but there is strong evidence regarding the role of genetic factors in disease establishment. For determination of the role of MYOC gene mutations in the development of POAG in Zahedan, Iran, screening of this gene was performed...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28782559/trap-seq-an-rna-sequencing-based-pipeline-for-the-identification-of-genetrap-insertions-in-mammalian-cells
#14
Cristina Mayor-Ruiz, Orlando Dominguez, Oscar Fernandez-Capetillo
The development of haploid mammalian cell lines, coupled to next generation sequencing, has recently facilitated forward genetic screenings in mammals. For mutagenesis, retrovirus- or transposon-based genetraps are frequently used. Current methods to map genetrap insertions are based on inverse- or splinkerette-PCR, which despite their efficacy are prone to artifacts and do not provide information about expression of the targeted gene. Here, we describe a new RNA-sequencing based method (Trap(Seq)) to map genetrap insertions...
August 4, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28782311/myotonic-dystrophy-type-1-clinical-electrophysiological-and-molecular-characterization-experience-at-tertiary-care-centre
#15
Satish Khadilkar, Kamlesh Jagiasi, Jayendra Yadav, Sushant V Chavan, Girish Soni, Bhagyadhan Patel
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is the most common myotonic disorder. Molecular genetic testing of the Dystrophia Myotonica-Protein Kinase DMPK gene to detect expansion of CTG repeats is confirmatory. TP-PCR (Triplet Primed-Polymerase Chain Reaction) is rapid and effective screening for the CTG repeat expansions in myotonic dystrophy. Indian data regarding clinical and genetic evaluation of DM1 are sparse. MATERIAL AND METHODS: This was a prospective observational study at a tertiary neurology centre...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28775277/environmental-influence-on-pristionchus-pacificus-mouth-form-through-different-culture-methods
#16
Michael S Werner, Bogdan Sieriebriennikov, Tobias Loschko, Suryesh Namdeo, Masa Lenuzzi, Mohannad Dardiry, Tess Renahan, Devansh Raj Sharma, Ralf J Sommer
Environmental cues can impact development to elicit distinct phenotypes in the adult. The consequences of phenotypic plasticity can have profound effects on morphology, life cycle, and behavior to increase the fitness of the organism. The molecular mechanisms governing these interactions are beginning to be elucidated in a few cases, such as social insects. Nevertheless, there is a paucity of systems that are amenable to rigorous experimentation, preventing both detailed mechanistic insight and the establishment of a generalizable conceptual framework...
August 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28775154/a-genome-wide-crispr-screen-reconciles-the-role-of-n-linked-glycosylation-in-galectin-3-transport-to-the-cell-surface
#17
Sarah E Stewart, Sam A Menzies, Stephanie J Popa, Natalia Savinykh, Anna Petrunkina Harrison, Paul J Lehner, Kevin Moreau
Galectins are a family of lectin binding proteins expressed both intracellularly and extracellularly. Galectin-3 (Gal-3) is expressed at the cell surface, however, Gal-3 lacks a signal sequence and the mechanism of Gal-3 transport to the cell surface remain poorly understood. Here, using a genome-wide CRISPR/Cas9 forward genetic screen for regulators of Gal-3 cell surface localization we identified genes encoding glycoproteins, enzymes involved in N-linked glycosylation, regulators of ER-Golgi trafficking and proteins involved in immunity...
August 3, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28772086/highlights-of-drug-and-herb-induced-liver-injury-in-the-literature-from-2016-how-best-to-translate-new-information-into-clinical-practice
#18
Omar Shahbaz, Sandeep Mahajan, James H Lewis
INTRODUCTION: More than 1500 papers on drug-induced liver injury (DILI) and herb-induced liver injury (HILI) were published in 2016, many of which have the potential to impact clinical practice. AREAS COVERED: Clinical studies and case series that lent themselves to new concepts or directions in diagnosing, preventing, and treating DILI were selected for inclusion. Epidemiology of DILI in large prospective registries was highlighted, including the US DILIN network and Spanish DILI registry...
August 3, 2017: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/28770584/histone-deacetylase-6-represses-pathogen-defense-responses-in-arabidopsis-thaliana
#19
Yizhong Wang, Qin Hu, Zhenjiang Wu, Hui Wang, Shiming Han, Ye Jin, Jin Zhou, Zhengfeng Zhang, Jiafu Jiang, Yun Shen, Huazhong Shi, Wannian Yang, Huazhong Shi
Plant defense mechanisms are suppressed in the absence of pathogen attack to prevent wasted energy and growth inhibition. However, how defense responses are repressed is not well understood. Histone Deacetylase 6 (HDA6) is a negative regulator of gene expression, and its role in pathogen defense response in plants is not known. In this study, a novel allele of hda6 (designated as shi5) with spontaneous defense response was isolated from a forward genetics screening in Arabidopsis. The shi5 mutant exhibited increased resistance to hemi-biotrophic bacterial pathogen Pst DC3000, constitutively activated expression of pathogen responsive genes including PR1, PR2, etc, and increased histone acetylation levels at the promoters of most tested genes that were up-regulated in shi5...
August 2, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/28770045/semi-supervised-determination-of-pseudocryptic-morphotypes-using-observer-free-characterizations-of-anatomical-alignment-and-shape
#20
Natasha S Vitek, Carly L Manz, Tingran Gao, Jonathan I Bloch, Suzanne G Strait, Doug M Boyer
Accurate, quantitative characterization of complex shapes is recognized as a key methodological challenge in biology. Recent development of automated three-dimensional geometric morphometric protocols (auto3dgm) provides a promising set of tools to help address this challenge. While auto3dgm has been shown to be useful in characterizing variation across clades of morphologically very distinct mammals, it has not been adequately tested in more problematic cases where pseudolandmark placement error potentially confounds interpretation of true shape variation...
July 2017: Ecology and Evolution
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