Relevant bibliographies by topics / Genetics and genomics/genetics of disease

Academic literature on the topic 'Genetics and genomics/genetics of disease'

Author: Grafiati
Published: 10 December 2022
Last updated: 29 January 2023

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Journal articles on the topic "Genetics and genomics/genetics of disease"

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Maserati, Megan, and Sheila A. Alexander. "Genetics and Genomics of Acute Neurologic Disorders." AACN Advanced Critical Care 29, no. 1 (March 15, 2018): 57–75. http://dx.doi.org/10.4037/aacnacc2018566.

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Neurologic diseases and injuries are complex and multifactorial, making risk prediction, targeted treatment modalities, and outcome prognostication difficult and elusive. Genetics and genomics have affected clinical practice in many aspects in medicine, particularly cancer treatment. Advancements in knowledge of genetic and genomic variability in neurologic disease and injury are growing rapidly. Although these data are not yet ready for use in clinical practice, research continues to progress and elucidate information that eventually will provide answers to complex neurologic questions and serve as a platform to provide individualized care plans aimed at improving outcomes. This article provides a focused review of relevant literature on genetics, genomics, and common complex neurologic disease and injury likely to be seen in the acute care setting.
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Baranov, V. S. "Genomics and predictive medicine." Siberian Journal of Clinical and Experimental Medicine 36, no. 4 (December 31, 2021): 14–28. http://dx.doi.org/10.29001/2073-8552-2021-36-4-14-28.

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Progress in understanding of structural and functional human genome organization and deciphering primary DNA sequence in human cells allowed for hitherto unreachable new capabilities of medical genetics in identifying the causes and mechanisms of inherited and inborn pathology. Implementation of genetics into medicine is progressively advancing along with improvement of molecular analysis of genome. Knowledge of genome and its functions allows to provide more accurate diagnosis, predict, to a considerable extent, the presence of genetic predisposition of a person to pathology, and to assess the chances for developing one or another disease. This approach became the basis for a new area of medical genetics named predictive medicine. The progress of predictive medicine refl ects success in tremendous upgrowth of molecular genetic methods and new capabilities of studying structure and functions of genome. Within less than 15 years after deciphering genome, medical genetics has travelled a long way from a single gene analysis to whole genome studies, from screening of genetic associations to systems genetics of multifactorial diseases, from translational to high-precision genetics, and from genetic passport idea to electronic genetic health records. The development of a genetic passport, prognostic genetic testing, and genomic chart of reproductive health is especially relevant for current practical medicine.
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Beecroft, Sarah Jane, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G. Laing, and Gianina Ravenscroft. "Genetics of neuromuscular fetal akinesia in the genomics era." Journal of Medical Genetics 55, no. 8 (June 29, 2018): 505–14. http://dx.doi.org/10.1136/jmedgenet-2018-105266.

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Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. More broadly, knowledge of disease genes increasingly allows population-based preconception carrier screening, which has reduced the incidence of recessive diseases in several populations. Despite gains in knowledge of the genetics of fetal akinesia, many families lack a genetic diagnosis. In this review, we describe the developments in Mendelian genetics of neuromuscular fetal akinesia in the genomics era. We examine genetic diagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.
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van Buijtenen, J. P. "Genomics and quantitative genetics." Canadian Journal of Forest Research 31, no. 4 (April 1, 2001): 617–22. http://dx.doi.org/10.1139/x00-171.

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The interaction between genomics and quantitative genetics has been a two-way street. Genomics contributed genetic markers and genetic maps making it possible to study quantitative trait loci (QTLs), and quantitative genetics contributed new theories and computational techniques to deal with the data generated by QTL studies. QTL studies in forest trees have led to the discovery of a few major genes masquerading as quantitative genes, such as genes for rust resistance in several pine species. QTLs for many traits including height growth, leaf traits, wood specific gravity, flowering, frost resistance, disease resistance, and ease of vegetative propagation were found in one or more species. Spring cold hardiness in Douglas-fir (Pseudotsuga menziesii (Mirb.) Franco) holds the record for number of QTLs with 14. Generally the number is under seven. The effects are often large, but this may often be due to small population sizes. At this time the impact on forest tree breeding is small, although the potential is certainly there. An interesting marker aided back-crossing program is underway in American chestnut (Castanea dentata (Marsh.) Borkh.).
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Lopes-Júnior, Luís Carlos, Emiliana Bomfim, and Milena Flória-Santos. "Genetics and Genomics Teaching in Nursing Programs in a Latin American Country." Journal of Personalized Medicine 12, no. 7 (July 12, 2022): 1128. http://dx.doi.org/10.3390/jpm12071128.

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Although the importance of genetics and genomics in nursing education has been widely recognized, surveys carried out in several countries show that these subjects are still limited in nursing undergraduate programs. In Latin America, the teaching of genetics and genomics in nursing programs has never been previously documented. Considering this scenario, we aimed to investigate how genetics and genomics have been taught in undergraduate nursing programs in Brazil. A total of 138 undergraduate nursing program coordinators and 49 faculty members were recruited to participate in this cross-sectional study. After IRB approval, data were collected using an online survey, covering curriculum design, faculty credentials, genetics and/or genomics teaching, as well as their impressions regarding the document “Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics”. Genetics is taught in most of the investigated courses (67.3%), mainly by biologists (77.6%), with master’s degree (83.7%), and with the syllabus mainly focused on molecular biology. More instructors agreed with Competency 2 (C2) which refers to advocating for clients’ access to desired genetic/genomic services and/or resources including support groups as well as C23 which refer to using health promotion/disease prevention practices that incorporate knowledge of genetic and genomic risk factors, than coordinators. That is, the participants’ type of appointment (instructors vs. coordinators) had a significant effect on their agreement level with competencies C2 (χ2 = 6.23, p = 0.041) and C23 (χ2 = 9.36, p = 0.007). Overall, a higher number of participants with both master’s and Ph.D. degrees significantly agreed with competencies C2, C4, which refer to incorporating genetic and genomic technologies and information into registered nurse practice, and C5—demonstrating in practice the importance of tailoring genetic and genomic information and services to clients based on their culture, religion, knowledge level, literacy, and preferred language, when compared to those with Ph.D. only, and those with a master’s degree only (χ2 = 8.73, p = 0.033; χ2 = 8.61, p = 0.033; χ2 = 8.61, p = 0.033, respectively). Our results support reflections on ways to prepare the nursing workforce to deliver personalized nursing care. Additionally, they can be an aid in establishing guidelines for the undergraduate nursing curricula in Brazil and in other Portuguese-speaking countries, as well as in Latin America.
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Howington, Lynnette, Kristina Riddlesperger, and Dennis J. Cheek. "Essential Nursing Competencies for Genetics and Genomics: Implications for Critical Care." Critical Care Nurse 31, no. 5 (October 1, 2011): e1-e7. http://dx.doi.org/10.4037/ccn2011867.

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The implications of genetics and genomics for critical care nurses are becoming more evident, not only in the care provided but also in the numerous medications administered. Genetic causes are being discovered for an increasing number of chronic illnesses and diseases, such as Huntington disease. Because of the scientific and pharmacological advances, leading nursing organizations, such as the American Nurses Association, have established competencies in genetic knowledge for nurses. Such competencies help ensure quality care. Recent advances in the pharmacogenomics of therapy for human immunodeficiency virus disease, cancer, cardiovascular disease, and malignant hyperthermia have indicated a genetic linkage; therefore treatments are targeted toward the genetic aspect of the abnormality. Critical care nurses need knowledge of these genetic conditions and of medications affected by genetic factors.
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Lin, Michelle K., and Matthew J. Farrer. "Genetics and genomics of Parkinson’s disease." Genome Medicine 6, no. 6 (2014): 48. http://dx.doi.org/10.1186/gm566.

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Geschwind, D. H., and J. Flint. "Genetics and genomics of psychiatric disease." Science 349, no. 6255 (September 24, 2015): 1489–94. http://dx.doi.org/10.1126/science.aaa8954.

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Blackwell, Jenefer M. "Genetics and genomics in infectious disease." International Journal of Infectious Diseases 6 (June 2002): S8—S9. http://dx.doi.org/10.1016/s1201-9712(02)90194-3.

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Garofalo, Silvio, Marisa Cornacchione, and Alfonso Di Costanzo. "From Genetics to Genomics of Epilepsy." Neurology Research International 2012 (2012): 1–18. http://dx.doi.org/10.1155/2012/876234.

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The introduction of DNA microarrays and DNA sequencing technologies in medical genetics and diagnostics has been a challenge that has significantly transformed medical practice and patient management. Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. Molecular Karyotype and Next-Generation Sequencing have the potential to identify causative genes or loci also in sporadic or non-familial epilepsy cases and may well represent the transition from a genetic to a genomic approach to epilepsy.
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Dissertations / Theses on the topic "Genetics and genomics/genetics of disease"

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Carr, E. J. "Genetics and genomics in autoimmune disease and healthy individuals." Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.597304.

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To look for common genetic variants associated with systemic lupus erythematosus (SLE) and anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) we genotyped 11 loci previously associated with T1D and containing regulators of the immune response. CTLA4 and PTPN22 were found to be associated with AAV. IL2RA was a susceptibility locus for both AAV and SLE. The association of each disease with the IL2RA region is complex. T1D associated independently with 3 single nucleotide polymorphisms (SNPs), whereas AAV and SLE were each associated with a different one of the three T1D-associated SNPs. The IL2RA region is also a known susceptibility locus for multiple sclerosis (MS) and Graves’ disease. Transcriptional profiling of purified CD8 T cells has previously identified two distinct patient subgroups in both AAV and SLE. The patients from one subgroup (8.1) had significantly more frequency relapses and a significantly larger CD8 T cell memory compartment than the other subgroup (8.2). We looked for the presence of these subgroups in MS, along with their ability to predict conversion from clinically isolated syndrome to MS. We tested for an HLA association and for an association with cytomegalovirus and Epstein-Barr virus infection. Two analogous subgroups (c8.1 and c8.2) were identifiable in the healthy population. A study testing for association between c8.1 and c8.2 and vaccine response was conducted using both T-dependent and T-independent vaccines to S. pneumoniae. Antibody titres to some serotypes of S. pneumoniae were associated with CD8 T cell subgroup at a single time point. Intriguingly, this study demonstrated that healthy individuals were able to change from c8.1 to c8.2 and vice versa after vaccination with either vaccine.
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Hsu, Jeff. "It's Complicated: Analyzing the Role of Genetics and Genomics in Cardiovascular Disease." Case Western Reserve University School of Graduate Studies / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=case1373030141.

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Hershman, Steven Gregory. "Personal Genomics and Mitochondrial Disease." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:10863.

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Mitochondrial diseases involving dysfunction of the respiratory chain are the most common inborn errors of metabolism. Mitochondria are found in all cell types besides red blood cells; consequently, patients can present with any symptom in any organ at any age. These diseases are genetically heterogeneous, and exhibit maternal, autosomal dominant, autosomal recessive and X-linked modes of inheritance. Historically, clinical genetic evaluation of mitochondrial disease has been limited to sequencing of the mitochondrial DNA (mtDNA) or several candidate genes. As human genome sequencing transformed from a research grade effort costing $250,000 to a clinical test orderable by doctors for under $10,000, it has become practical for researchers to sequence individual patients. This thesis describes our experiences in applying "MitoExome" sequencing of the mtDNA and exons of >1000 nuclear genes encoding mitochondrial proteins in ~200 patients with suspected mitochondrial disease. In 42 infants, we found that 55% harbored pathogenic mtDNA variants or compound heterozygous mutations in candidate genes. The pathogenicity of two nuclear genes not previously linked to disease, NDUFB3 and AGK, was supported by complementation studies and evidence from multiple patients, respectively. In an additional two unrelated children presenting with Leigh syndrome and combined OXPHOS deficiency, we identified compound heterozygous mutations in MTFMT. Patient fibroblasts exhibit severe defects in mitochondrial translation that can be rescued by exogenous expression of MTFMT. Furthermore, patient fibroblasts have dramatically reduced fMet-\(tRNA^{Met}\) levels and an abnormal formylation profile of mitochondrially translated \(COX_1\). These results demonstrate that MTFMT is critical for human mitochondrial translation. Lastly, to facilitate evaluation of copy number variants (CNVs), we developed a web-interface that integrates CNV calling with genetic and phenotypic information. Additional diagnoses are suggested and in a male with ataxia, neuropathy, azoospermia, and hearing loss we found a deletion compounded with a missense variant in D-bifunctional protein, \(HSD_{17}B_4\), a peroxisomal enzyme that catalyzes beta-oxidation of very long chain fatty acids. Retrospective review of metabolic testing from this patient revealed alterations of long- and very-long chain fatty acid metabolism consistent with a peroxisomal disorder. This work expands the molecular basis of mitochondrial disease and has implications for clinical genomics.
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Albers, Patrick K. "Rare and low-frequency variants and predisposition to complex disease." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:2d569297-5d2a-49c8-a1ca-32a978aec49d.

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Advances in high-throughput genomic technologies have facilitated the collection of DNA information for thousands of individuals, providing unprecedented opportunities to explore the genetic architecture of complex disease. One important finding has been that the majority of variants in the human genome are low in frequency or rare. It has been hypothesised that recent explosive growth of the human population afforded unexpectedly large amounts of rare variants with potentially deleterious effects, suggesting that rare variants may play a role in disease predisposition. But, importantly, rare variants embody a source of information through which we may learn more about our recent evolutionary history. In this thesis, I developed several statistical and computational methods to address problems associated with the analysis of rare variants and, foremost, to leverage the genealogical information they encode. First, one constraint in genome-wide association studies is that lower-frequency variants are not well captured by genotyping methods, but instead are predicted through imputation from a reference dataset. I developed the meta-imputation method to improve imputation accuracy by integrating genotype data from multiple, independent reference panels, which outperformed imputations from separate references in almost all comparisons (mean correlation with masked genotypes r2>0.9). I further demonstrated in simulated case-control studies that meta-imputation increased the statistical power to identify low-frequency variants of intermediate or high penetrance by 2.2-3.6%. Second, rare variants are likely to have originated recently through mutation and thereby sit on relatively long haplotype regions identical by descent (IBD). I developed a method that exploits rare variants as identifiers for shared haplotype segments around which the breakpoints of recombination are detected using non-probabilistic approaches. In coalescent simulations, I show that such breakpoints can be inferred with high accuracy (r2>0.99) around rare variants at frequencies <0.05%, using either haplotype or genotype data. Third, I show that technical error poses a major problem for the analysis of whole-genome sequencing or genotyping data, particularly for alleles below 0.05% frequency (false positive rate, FPR=0.1). I therefore propose a novel approach to infer IBD segments using a Hidden Markov Model (HMM) which operates on genotype data alone. I incorporated an empirical error model constructed from error rates I estimated in publicly available sequencing and genotyping datasets. The HMM was robust in presence of error in simulated data (r2>0.98) while nonprobabilistic methods failed (r2<0.02). Lastly, the age of an allele (the time since its creation through mutation) may provide clues about demographic processes that resulted in its observed frequency. I present a novel method to estimate (rare) allele age based on the inferred shared haplotype structure of the sample. The method operates in a Bayesian framework to infer pairwise coalescent times from which the age is estimated using a composite posterior approach. I show in simulated data that coalescent time can be inferred with high accuracy (rank correlation >0.91) which resulted in a likewise high accuracy for estimated age (>0.94). When applied to data from the 1000 Genomes Project, I show that estimated age distributions were overall conform with frequency-dependent expectations under neutrality, but where patterns of low frequency and old age may hint at signatures of selection at certain sites. Thus, this method may prove useful in the analysis of large cohorts when linked to biomedical phenotype data.
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Ahmed, Seemin Seher. "rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation." eScholarship@UMMS, 2014. https://escholarship.umassmed.edu/gsbs_diss/749.

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Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant adeno associated viruses (rAAVs). We first investigated the CNS gene transfer abilities of rAAV vectors that can cross the blood-brain-barrier in neonatal and adult mice and subsequently used different rAAV serotypes such as rAAV9, rAAVrh.8 and rAAVrh.10 for gene replacement therapy. A single intravenous injection rescued lethality, extended survival and corrected several disease phenotypes including motor dysfunctions. For the first time we demonstrated the existence of a therapeutic time window in the mouse model. In order to limit off-target effects of viral delivery we employed a synthetic strategy using microRNA mediated posttranscriptional detargeting to restrict rAAV expression in the CNS. We followed up with another approach to limit peripheral tissue distribution. Strikingly, we demonstrate that intracerebroventricular administration of a 50-fold lower vectors dose can rescue lethality and extend survival but not motor functions. We also study the contributions of several peripheral tissues in a primarily CNS disorder and examine several molecular attributes behind pathogenesis of Canavan’s disease using primary neural cell cultures. In summary, this thesis describes the potential of novel rAAV-mediated gene replacement therapy in Canavan’s disease and the use of rAAVs as a tool to tease out its pathological mechanism.
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Ahmed, Seemin Seher. "rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation." eScholarship@UMMS, 2012. http://escholarship.umassmed.edu/gsbs_diss/749.

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Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant adeno associated viruses (rAAVs). We first investigated the CNS gene transfer abilities of rAAV vectors that can cross the blood-brain-barrier in neonatal and adult mice and subsequently used different rAAV serotypes such as rAAV9, rAAVrh.8 and rAAVrh.10 for gene replacement therapy. A single intravenous injection rescued lethality, extended survival and corrected several disease phenotypes including motor dysfunctions. For the first time we demonstrated the existence of a therapeutic time window in the mouse model. In order to limit off-target effects of viral delivery we employed a synthetic strategy using microRNA mediated posttranscriptional detargeting to restrict rAAV expression in the CNS. We followed up with another approach to limit peripheral tissue distribution. Strikingly, we demonstrate that intracerebroventricular administration of a 50-fold lower vectors dose can rescue lethality and extend survival but not motor functions. We also study the contributions of several peripheral tissues in a primarily CNS disorder and examine several molecular attributes behind pathogenesis of Canavan’s disease using primary neural cell cultures. In summary, this thesis describes the potential of novel rAAV-mediated gene replacement therapy in Canavan’s disease and the use of rAAVs as a tool to tease out its pathological mechanism.
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Shiyab, Amy S. "Knowledge and Perception of Nutritional Genomics Among Registered Dietitian Nutritionists." Kent State University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=kent1563187321042113.

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McCann, Jennifer. "Variability of genomic imprinting in human disease." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84294.

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Genomic imprinting is the differential expression of genetic material depending on the parent from which it is transmitted. It is involved in the pathogenesis of many diseases, especially those involved in development, growth abnormalities and cancer. We examined the extent of and the variability of genomic imprinting amongst individuals in three human diseases, Wilms' tumour, Type 1 diabetes and Silver-Russell syndrome.
Wilms' tumour (WT) is a renal embryonal cancer associated with overexpression of the insulin-like growth factor 2 (IGF2). IGF2 is directed to the lysosomes for degradation by the mannose-6-phosphate/insulin-like growth factor two receptor (M6P/IGF2R) encoded by the IGF2R gene, a known tumour suppressor gene on 6826. IGF2R is imprinted in the mouse, with exclusive maternal expression. In humans, however, IGF2R imprinting is a polymorphic phenomenon only being found in a small subset of people. We present results suggesting that IGF2R imprinting provides the first "hit" in IGF2R inactivation in WT, and show the presence of a second "hit" in the form of deletions detectable as loss of heterozygosity.
Another disease investigated in this report is Type 1 diabetes (TID), an autoimmune, polygenic disease. Of the several T1D loci, IDDM8 on 6q, has been found to be subject to parent-of-origin effects and encompasses IGF2R. M6P/IGF2R is involved in immune system regulation. In this study we show an association between TID and IGF2R that is confined to maternally inherited alleles. Our results strongly suggest that IGF2R is a TID susceptibility gene and may be universally imprinted at some tissue or developmental stage not yet studied.
A third disease displaying both tissue-specific and isoform-specific imprinting is Silver-Russell syndrome (SRS), a growth disorder associated with double dose of a maternally expressed gene within 7p11.2--p13, a region in which the imprinted GRB10 gene was a prime candidate. We studied the complex tissue and isoform-dependence of GRB10 imprinting and demonstrated absence of imprinting in growth plate cartilage, the tissue most directly involved in linear growth thus eliminating GRB10 as the gene responsible for SRS.
It is evident that genomic imprinting plays a prominent role in various diseases. Imprinted genes can be expressed in a tissue-specific, isoform-specific or a temporally regulated manner. In addition, there is a wide variability of imprinting between individuals.
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Corradin, Olivia G. "Impact of DNA Variants in the Regulatory Circuitry of Gene Expression inHuman Disease." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1427988486.

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Jostins, Luke. "Using next-generation genomic datasets in disease association." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608054.

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Books on the topic "Genetics and genomics/genetics of disease"

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Danieli, Gian Antonio. Genetics and genomics for the cardiologist. Dordrecht: Kluwer Academic Pub., 2002.

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Public health genomics: The essentials. San Francisco: Jossey-Bass, 2008.

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András, Falus, ed. Immunogenomics and human disease. Chichester, West Sussex, England: Wiley, 2006.

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Smith, Moyra. Translational research in genetics and genomics. Oxford: Oxford University Press, 2008.

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Smith, Moyra. Translational research in genetics and genomics. Oxford: Oxford University Press, 2008.

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M, Roden D., and American Heart Association, eds. Cardiovascular genetics and genomics. Dallas, TX: American Heart Association ; Chichester, West Sussex, UK, 2009.

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B, Irons Mira, ed. Human genetics and genomics. 4th ed. Chichester, West Sussex, UK: John Wiley & Sons, 2013.

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Michigan. Department of Community Health. Genetics through the life cycle: Improving health and preventing disease. 8th ed. Lansing, Mich: Michigan Dept. of Community Health, 2004.

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Gene discovery for disease models. Hoboken, N.J: Wiley, 2011.

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1956-, Peltz Gary, ed. Computational genetics and genomics: Tools for understanding disease. Totowa, N.J: Humana Press, 2005.

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Book chapters on the topic "Genetics and genomics/genetics of disease"

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Finno, Carrie J., and Monica Aleman. "Genetics of Equine Neurologic Disease." In Equine Genomics, 217–39. Oxford, UK: Blackwell Publishing Ltd., 2013. http://dx.doi.org/10.1002/9781118522158.ch14.

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Sonis, Stephen T. "Fundamentals of Genetics and Genomics." In Genomics, Personalized Medicine and Oral Disease, 1–10. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-17942-1_1.

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Li, Hongjing, and Shiping Wang. "Disease Resistance." In Genetics and Genomics of Rice, 161–75. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-7903-1_11.

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Porter, Brad W., David A. Christopher, and Yun J. Zhu. "Genomics of Papaya Disease Resistance." In Genetics and Genomics of Papaya, 277–307. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8087-7_15.

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Yamada, Yoshiji, and Yoshiki Yasukochi. "Genetics and Genomics of Coronary Artery Disease." In Cardiovascular Genetics and Genomics, 661–78. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-66114-8_22.

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Arbustini, Eloisa, Lorenzo Giuliani, Alessandro Di Toro, and Valentina Favalli. "Inherited Cardiac Muscle Disease: Dilated Cardiomyopathy." In Cardiovascular Genetics and Genomics, 319–66. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-66114-8_10.

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Martin, Claire, and Pier Lambiase. "Inherited Conduction Disease and Atrial Fibrillation." In Cardiovascular Genetics and Genomics, 481–522. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-66114-8_15.

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Brennan, Paul. "Spectrum and Classification of Inherited Cardiovascular Disease." In Cardiovascular Genetics and Genomics, 35–69. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-66114-8_2.

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Bender, Hannah S. "Devil Facial Tumour Disease (DFTD): Using Genetics and Genomics to Investigate Infectious Disease in an Endangered Marsupial." In Marsupial Genetics and Genomics, 499–515. Dordrecht: Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9023-2_23.

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Strachan, Tom, and Anneke Lucassen. "Identifying disease genes and genetic susceptibility to complex disease." In Genetics and Genomics in Medicine, 239–300. 2nd ed. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/b22853-8.

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Conference papers on the topic "Genetics and genomics/genetics of disease"

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"Tomato endophytic bacteria bioactive compounds as potential agents for the postharvest biocontrol of gray mold disease." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-032.

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"Using synthetic forms of RS5 and RS7 to expand the genetic diversity of common wheat for disease resistance." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-036.

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"β-glucan elicitor from Schizophyllum commune induces expression of defense genes and protective effect against Phytopthora blight disease of pepper." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-211.

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"Generalization of the results on the effect of selenium nanocomposites on the interaction of potatoes with the ring rot disease pathogen." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-153.

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"Automatic identification of wheat fungi diseases using a convolutional neural network." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-062.

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"Genetic resources in creating sustainable diseases of introgressive spring wheat forms." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-002.

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"Diseases of Miscanthus rhizome: hidden threat for the development of biomass cultivations." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-086.

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"The heritability of carrot resistance to fungal diseases of Alternaria and Fusarium genus." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-014.

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"Major approaches in improving wheat resistance to the crucially dangerous diseases in Kazakhstan." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/plantgen2019-152.

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"Screening collection varieties of VIR for resistance to stress factors (resistance to diseases and lodging) at Novosibirsk region." In Plant Genetics, Genomics, Bioinformatics, and Biotechnology. Novosibirsk ICG SB RAS 2021, 2021. http://dx.doi.org/10.18699/plantgen2021-027.

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Reports on the topic "Genetics and genomics/genetics of disease"

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Ehrlich, Marcelo, John S. Parker, and Terence S. Dermody. Development of a Plasmid-Based Reverse Genetics System for the Bluetongue and Epizootic Hemorrhagic Disease Viruses to Allow a Comparative Characterization of the Function of the NS3 Viroporin in Viral Egress. United States Department of Agriculture, September 2013. http://dx.doi.org/10.32747/2013.7699840.bard.

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Project Title: "Development of a plasmid-based reverse genetics system for the Bluetongue and Epizootic Hemorrhagic Disease viruses to allow comparative characterization of the function of the NS3 viroporin in viral egress". Project details: No - IS-4192-09; Participants – Ehrlich M. (Tel Aviv University), Parker J.S. (Cornell University), DermodyT.S. (Vanderbilt University); Period - 2009-2013. Orbiviruses are insect-borne infectious agents of ruminants that cause diseases with considerable economical impact in Israel and the United States. The recent outbreaks of BTV in Europe and of Epizootic Hemorrhagic Disease Virus (EHDV) in Israel, underscore the need for: (i) a better comprehension of the infection process of orbiviruses, (ii) the identification of unique vs. common traits among different orbiviruses, (iii) the development of novel diagnosis and treatment techniques and approaches; all aimed at the achievement of more effective control and treatment measures. It is the context of these broad goals that the present project was carried out. To fulfill our long-term goal of identifying specific viral determinants of virulence, growth, and transmission of the orbiviruses, we proposed to: (i) develop reverse genetics systems for BTV and EHDV2-Ibaraki; and (ii) identify the molecular determinants of the NS3 nonstructural protein related to viroporin/viral egress activities. The first objective was pursued with a two-pronged approach: (i) development of a plasmid-based reverse genetics system for BTV-17, and (ii) development of an "in-vitro" transcription-based reverse genetics system for EHDV2-Ibaraki. Both approaches encountered technical problems that hampered their achievement. However, dissection of the possible causes of the failure to achieve viral spread of EHDV2-Ibaraki, following the transfection of in-vitro transcribed genomic segments of the virus, revealed a novel characteristic of EHDV2-Ibaraki infection: an uncharacteristically low fold increase in titer upon infection of different cell models. To address the function and regulation of NS3 we employed the following approaches: (i) development (together with Anima Cell Metrology) of a novel technique (based on the transfection of fluorescently-labeledtRNAs) that allows for the detection of the levels of synthesis of individual viral proteins (i.e. NS3) in single cells; (ii) development of a siRNA-mediated knockdown approach for the reduction in levels of expression of NS3 in EHDV2-Ibaraki infected cells; (iii) biochemical and microscopy-based analysis of the localization, levels and post-translational modifications of NS3 in infected cells. In addition, we identified the altered regulation and spatial compartmentalization of protein synthesis in cells infected with EHDV2-Ibaraki or the mammalian reovirus. In EHDV2-Ibaraki-infected cells such altered regulation in protein synthesis occurs in the context of a cell stress reponse that includes the induction of apoptosis, autophagy and activation of the stressrelated kinase c-Jun N-terminal Kinase (JNK). Interestingly, inhibition of such stress-related cellular processes diminishes the production of infectious virions, suggesting that EHDV usurps these responses for the benefit of efficient infection. Taken together, while the present project fell short of the generation of novel reverse genetics systems for orbiviruses, the development of novel experimental approaches and techniques, and their employment in the analysis of EHDV-infected cells, yielded novel insights in the interactions of orbiviruses with mammalian cells.
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Klein, Eric, and Yaw Nyame. The genetics and genomics of prostate cancer. BJUI Knowledge, July 2019. http://dx.doi.org/10.18591/bjuik.0152.

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Yuen, Gary, Serge Edme, Gautam Sarath, Nathan Palmer, Satyanarayana Tatineni, and Robert Mitchell. Genetics and Genomics of Pathogen Resistance in Switchgrass. Office of Scientific and Technical Information (OSTI), December 2020. http://dx.doi.org/10.2172/1783170.

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Todorovska, Elena, Nabil Abu Mhadi, Nikolai Christov, Violeta Bozhanova, and Atanas Atanassov. Cereal Genetics and Genomics in Bulgaria – Challenges and Perspectives. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, January 2018. http://dx.doi.org/10.7546/crabs.2018.02.01.

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Todorovska, Elena, Nabil Abu Mhadi, Nikolai Christov, Violeta Bozhanova, and Atanas Atanassov. Cereal Genetics and Genomics in Bulgaria – Challenges and Perspectives. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, February 2018. http://dx.doi.org/10.7546/grabs2018.2.01.

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Zhao, Bingyu, Saul Burdman, Ronald Walcott, and Gregory E. Welbaum. Control of Bacterial Fruit Blotch of Cucurbits Using the Maize Non-Host Disease Resistance Gene Rxo1. United States Department of Agriculture, September 2013. http://dx.doi.org/10.32747/2013.7699843.bard.

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The specific objectives of this BARD proposal were: (1) To determine whether Rxol can recognize AacavrRxo1 to trigger BFB disease resistance in stable transgenic watermelon plants. (2) To determine the distribution of Aac-avrRxo1 in a global population of Aae and to characterize the biological function of Aac-avrRxo1. (3) To characterize other TIS effectors of Aae and to identify plant R gene(s) that can recognize conserved TIS effectors of this pathogen. Background to the topic: Bacterial fruit blotch (BFB) of cucurbits, caused by Acidovorax avenae subsp. citrulli (Aae), is a devastating disease that affects watermelon (Citrullus lanatus) and melon (Cucumis melo) production worldwide, including both Israel and USA. Two major groups of Aae strains have been classified based on their virulence on host plants, genetics and biochemical properties. Thus far, no effective resistance genes have been identified from cucurbit germplasm. In this project, we assessed the applicability of a non-host disease resistance gene, Rxol, to control BFB in watermelon. We also tried to identify Aae type III secreted (TIS) effectors that can be used as molecular probes to identify novel disease resistance genes in both cucurbits and Nieotianatabaeum. Major conclusions, solutions, achievements: We generated five independent transgenic watermelon (cv. Sugar Babay) plants expressing the Rxol gene. The transgenic plants were evaluated with Aae strains AAC001 and M6 under growth chamber conditions. All transgenic plants were found to be susceptible to both Aae strains. It is possible that watermelon is missing other signaling components that are required for Rxol-mediated disease resistance. In order to screen for novel BFB resistance genes, we inoculated two Aae strains on 60 Nieotiana species. Our disease assay revealed Nicotiana tabaeum is completely resistant to Aae, while its wild relative N. benthamiana is susceptible to Aae. We further demonstrated that Nieotiana benthamiana can be used as a surrogate host for studying the mechanisms of pathogenesis of Aae. We cloned 11 TIS effector genes including the avrRxolhomologues from the genomes of 22 Aae strains collected worldwide. Sequencing analysis revealed that functional avrRxol is conserved in group" but not group I Aae strains. Three effector genes- Aave_1548, Aave_2166 and Aave_2708- possessed the ability to trigger an HR response in N. tabacum when they were transiently expressed by Agrobaeterium. We conclude that N. tabacum carries at least three different non-host resistance genes that can specifically recognize AaeTIS effectors to trigger non-host resistance. Screening 522 cucurbits genotypes with two Aae strains led us to identify two germplasm (P1536473 and P1273650) that are partially resistant to Aae. Interestingly, transient expression of the TIS effector, Aave_1548, in the two germplasms also triggered HR-Iike cell death, which suggests the two lines may carry disease resistance genes that can recognize Aave_1548. Importantly, we also demonstrated that this effector contributes to the virulence of the bacterium in susceptible plants. Therefore, R genes that recognize effector Aave1548 have great potential for breeding for BFB resistance. To better understand the genome diversity of Aae strains, we generated a draft genome sequence of the Israeli Aae strain, M6 (Group I) using Iliumina technology. Comparative analysis of whole genomes of AAC001, and M6 allowed us to identify several effectors genes that differentiate groups I and II. Implications, both scientific and agricultural: The diversity of TIS effectors in group I and II strains of Aae suggests that a subset of effectors could contribute to the host range of group I and II Aae strains. Analysis of these key effectors in a larger Aae population may allow us to predict which cucurbit hosts may be at risk to BFB. Additionally, isolation of tobacco and cucurbit Rgenes that can recognize Aae type III effectors may offer new genetic resources for controlling BFB.
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Zhao, Bingyu, Saul Burdman, Ronald Walcott, Tal Pupko, and Gregory Welbaum. Identifying pathogenic determinants of Acidovorax citrulli toward the control of bacterial fruit blotch of cucurbits. United States Department of Agriculture, January 2014. http://dx.doi.org/10.32747/2014.7598168.bard.

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The specific objectives of this BARD proposal were: Use a comparative genomics approach to identify T3Es in group I, II and III strains of A. citrulli. Determine the bacterial genes contributing to host preference. Develop mutant strains that can be used for biological control of BFB. Background to the topic: Bacterial fruit blotch (BFB) of cucurbits, caused by Acidovoraxcitrulli, is a devastating disease that affects watermelon (Citrulluslanatus) and melon (Cucumismelo) production worldwide, including both Israel and USA. Three major groups of A. citrullistrains have been classified based on their virulence on host plants, genetics and biochemical properties. The host selection could be one of the major factors that shape A. citrullivirulence. The differences in the repertoire of type III‐ secreted effectors (T3Es) among the three A. citrulligroups could play a major role in determining host preferential association. Currently, there are only 11 A. citrulliT3Es predicted by the annotation of the genome of the group II strain, AAC00‐1. We expect that new A. citrulliT3Es can be identified by a combination of bioinformatics and experimental approaches, which may help us to further define the relationship of T3Es and host preference of A. citrulli. Implications, both scientific and agricultural: Enriching the information on virulence and avirulence functions of T3Es will contribute to the understanding of basic aspects of A. citrulli‐cucurbit interactions. In the long term, it will contribute to the development of durable BFB resistance in commercial varieties. In the short term, identifying bacterial genes that contribute to virulence and host preference will allow the engineering of A. citrullimutants that can trigger SAR in a given host. If applied as seed treatments, these should significantly improve the effectiveness and efficacy of BFB management in melon and atermelon production.
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Joel, Daniel M., Steven J. Knapp, and Yaakov Tadmor. Genomic Approaches for Understanding Virulence and Resistance in the Sunflower-Orobanche Host-Parasite Interaction. United States Department of Agriculture, August 2011. http://dx.doi.org/10.32747/2011.7592655.bard.

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Oroginal Objectives: (i) identify DNA markers linked to the avirulence (Avr) locus and locate the Avr locus through genetic mapping with an inter-race Orobanche cumana population; (ii) develop high-throughput fingerprint DNA markers for genotypingO. cumana races; (iii) identify nucleotide binding domain leucine rich repeat (NB-LRR) genes encoding R proteins conferring resistance to O. cumana in sunflower; (iv) increase the resolution of the chromosomal segment harboring Or₅ and related R genes through genetic and physical mapping in previously and newly developed mapping populations of sunflower; and (v) develop high-throughput DNA markers for rapidly and efficiently identifying and transferring sunflower R genes through marker-assisted selection. Revisions made during the course of project: Following changes in O. cumana race distribution in Israel, the newly arrived virulent race H was chosen for further analysis. HA412-HO, which was primarily chosen as a susceptible sunflower cultivar, was more resistant to the new parasite populations than var. Shemesh, thus we shifted sunflower research into analyzing the resistance of HA412-HO. We exceeded the deliverables for Objectives #3-5 by securing funding for complete physical and high-density genetic mapping of the sunflower genome, in addition to producing a complete draft sequence of the sunflower genome. We discovered limited diversity between the parents of the O. cumana population developed for the mapping study. Hence, the developed DNA marker resources were insufficient to support genetic map construction. This objective was beyond the scale and scope of the funding. This objective is challenging enough to be the entire focus of follow up studies. Background to the topic: O. cumana, an obligate parasitic weed, is one of the most economically important and damaging diseases of sunflower, causes significant yield losses in susceptible genotypes, and threatens production in Israel and many other countries. Breeding for resistance has been crucial for protecting sunflower from O. cumana, and problematic because new races of the pathogen continually emerge, necessitating discovery and deployment of new R genes. The process is challenging because of the uncertainty in identifying races in a genetically diverse parasite. Major conclusions, solutions, achievements: We developed a small collection of SSR markers for genetic mapping in O. cumana and completed a diversity study to lay the ground for objective #1. Because DNA sequencing and SNPgenotyping technology dramatically advanced during the course of the study, we recommend shifting future work to SNP discovery and mapping using array-based approaches, instead of SSR markers. We completed a pilot study using a 96-SNP array, but it was not large enough to support genetic mapping in O.cumana. The development of further SNPs was beyond the scope of the grant. However, the collection of SSR markers was ideal for genetic diversity analysis, which indicated that O. cumanapopulations in Israel considerably differ frompopulations in other Mediterranean countries. We supplied physical and genetic mapping resources for identifying R-genes in sunflower responsible for resistance to O. cumana. Several thousand mapped SNP markers and a complete draft of the sunflower genome sequence are powerful tools for identifying additional candidate genes and understanding the genomic architecture of O. cumana-resistanceanddisease-resistance genes. Implications: The OrobancheSSR markers have utility in sunflower breeding and genetics programs, as well as a tool for understanding the heterogeneity of races in the field and for geographically mapping of pathotypes.The segregating populations of both Orobanche and sunflower hybrids are now available for QTL analyses.
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Vakharia, Vikram, Shoshana Arad, Yonathan Zohar, Yacob Weinstein, Shamila Yusuff, and Arun Ammayappan. Development of Fish Edible Vaccines on the Yeast and Redmicroalgae Platforms. United States Department of Agriculture, February 2013. http://dx.doi.org/10.32747/2013.7699839.bard.

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Betanodaviruses are causative agents of viral nervous necrosis (VNN), a devastating disease of cultured marine fish worldwide. Betanodavirus (BTN) genome is composed of two single-stranded, positive-sense RNA molecules. The larger genomic segment, RNA1 (3.1 kb), encodes the RNA-dependent RNA polymerase, while the smaller genomic segment, RNA 2 (1.4kb), encodes the coat protein. This structural protein is the host-protective antigen of VNN which assembles to form virus-like particles (VLPs). BTNs are classified into four genotypes, designated red-spotted grouper nervous necrosis virus (RGNNV), barfin flounder nervous necrosis virus (BFNNV), tiger puffer nervous necrosis virus (TPNNV), and striped jack nervous necrosis virus (SJNNV), based on phylogenetic analysis of the coat protein sequences. RGNNV type is quite important as it has a broad host-range, infecting warm-water fish species. At present, there is no commercial vaccine available to prevent VNN in fish. The general goal of this research was to develop oral fish vaccines in yeast and red microalgae (Porphyridium sp.) against the RGNNV genotype. To achieve this, we planned to clone and sequence the coat protein gene of RGNNV, express the coat protein gene of RGNNV in yeast and red microalgae and evaluate the immune response in fish fed with recombinantVLPs antigens produced in yeast and algae. The collaboration between the Israeli group and the US group, having wide experience in red microalgae biochemistry, molecular genetics and large-scale cultivation, and the development of viral vaccines and eukaryotic protein expression systems, respectively, was synergistic to produce a vaccine for fish that would be cost-effective and efficacious against the betanodavirus infection.
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Dickman, Martin B., and Oded Yarden. Genetic and chemical intervention in ROS signaling pathways affecting development and pathogenicity of Sclerotinia sclerotiorum. United States Department of Agriculture, July 2015. http://dx.doi.org/10.32747/2015.7699866.bard.

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Abstract: The long-term goals of our research are to understand the regulation of sclerotial development and pathogenicity in S. sclerotior11111. The focus in this project was on the elucidation of the signaling events and environmental cues involved in the regulation of these processes, utilizing and continuously developing tools our research groups have established and/or adapted for analysis of S. sclerotiorum, Our stated objectives: To take advantage of the recent conceptual (ROS/PPs signaling) and technical (amenability of S. sclerotiorumto manipulations coupled with chemical genomics and next generation sequencing) developments to address and extend our fundamental and potentially applicable knowledge of the following questions concerning the involvement of REDOX signaling and protein dephosphorylation in the regulation of hyphal/sclerotial development and pathogenicity of S. sclerotiorum: (i) How do defects in genes involved in ROS signaling affect S. sclerotiorumdevelopment and pathogenicity? (ii) In what manner do phosphotyrosinephosphatases affect S. sclerotiorumdevelopment and pathogenicity and how are they linked with ROS and other signaling pathways? And (iii) What is the nature of activity of newly identified compounds that affect S. sclerotiori,111 growth? What are the fungal targets and do they interfere with ROS signaling? We have met a significant portion of the specific goals set in our research project. Much of our work has been published. Briefly. we can summarize that: (a) Silencing of SsNox1(NADPHoxidase) expression indicated a central role for this enzyme in both virulence and pathogenic development, while inactivation of the SsNox2 gene resulted in limited sclerotial development, but the organism remained fully pathogenic. (b) A catalase gene (Scatl), whose expression was highly induced during host infection is involved in hyphal growth, branching, sclerotia formation and infection. (c) Protein tyrosine phosphatase l (ptpl) is required for sclerotial development and is involved in fungal infection. (d) Deletion of a superoxidedismutase gene (Sssodl) significantly reduced in virulence on both tomato and tobacco plants yet pathogenicity was mostly restored following supplementation with oxalate. (e) We have participated in comparative genome sequence analysis of S. sclerotiorumand B. cinerea. (f) S. sclerotiorumexhibits a potential switch between biotrophic and necrotrophic lifestyles (g) During plant­ microbe interactions cell death can occur in both resistant and susceptible events. Non­ pathogenic fungal mutants S. sclerotior111n also cause a cell death but with opposing results. We investigated PCD in more detail and showed that, although PCD occurs in both circumstances they exhibit distinctly different features. The mutants trigger a restricted cell death phenotype in the host that unexpectedly exhibits markers associated with the plant hypersensitive (resistant) response. Using electron and fluorescence microscopy, chemical effectors and reverse genetics, we have established that this restricted cell death is autophagic. Inhibition of autophagy rescued the non-pathogenic mutant phenotype. These findings indicate that autophagy is a defense response in this interaction Thus the control of cell death, dictated by the plant (autophagy) סr the fungus (apoptosis), is decisive to the outcome of certain plant­ microbe interactions. In addition to the time and efforts invested towards reaching the specific goals mentioned, both Pls have initiated utilizing (as stated as an objective in our proposal) state of the art RNA-seq tools in order to harness this technology for the study of S. sclerotiorum. The Pls have met twice (in Israel and in the US), in order to discuss .נחd coordinate the research efforts. This included a working visit at the US Pls laboratory for performing RNA-seq experiments and data analysis as well as working on a joint publication (now published). The work we have performed expands our understanding of the fundamental biology (developmental and pathogenic) of S. sclerotioז111וז. Furthermore, based on our results we have now reached the conclusion that this fungus is not a bona fide necrotroph, but can also display a biotrophic lifestyle at the early phases of infection. The data obtained can eventually serve .נ basis of rational intervention with the disease cycle of this pathogen.
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