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Artykuły w czasopismach na temat "Genetic modifier factors"

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Ginsburg, David. "Genetic Modifiers of Thrombosis in Mice." Blood 114, no. 22 (2009): SCI—44—SCI—44. http://dx.doi.org/10.1182/blood.v114.22.sci-44.sci-44.

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Abstract Abstract SCI-44 The genetic factors responsible for the highly variable clinical course of inherited bleeding disorders including von Willebrand disease and hemophilia are largely unknown. Similar factors are also likely to contribute to the variability of common thrombotic disorders, including factor V Leiden. Studies by our lab over the past 10 years have used the power of mouse genetics to identify genes contributing to this variability (referred to as ‘modifier‘ genes). By performing genetic crosses between inbred strains of mice with elevated plasma levels of von Willebrand Facto
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Mésinèle, Julie, Manon Ruffin, Loïc Guillot, and Harriet Corvol. "Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes." International Journal of Molecular Sciences 23, no. 22 (2022): 14205. http://dx.doi.org/10.3390/ijms232214205.

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Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the exocrine pancreatic status, most studies agree that there is little association between CFTR variants and disease phenotypes. Environmental factors have been shown to contribute to this heterogeneity, accounting for almost 50% of the variability of the lung function of pwCF. Nevertheless, pwCF with similar CFTR variants and sharing the same environment (such
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Butnariu, Lăcrămioara Ionela, Elena Țarcă, Elena Cojocaru, et al. "Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine." Journal of Clinical Medicine 10, no. 24 (2021): 5821. http://dx.doi.org/10.3390/jcm10245821.

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Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention of modifier genes that interact with both the CFTR gene and environmental factors. The purpose of this review is to highlight the role of non-CFTR genetic factors (modifier genes) that contribute to phenotypic variability in CF. We analyzed literature data starting with candidate gene studies and continuing with ext
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Davidson, Courtney E., Qian Li, Gary A. Churchill, Lucy R. Osborne, and Heather E. McDermid. "Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans." Physiological Genomics 31, no. 2 (2007): 244–51. http://dx.doi.org/10.1152/physiolgenomics.00062.2007.

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Neural tube defects (NTDs), the second most common birth defect in humans, are multifactorial with complex genetic and environmental causes, although the genetic factors are almost completely unknown. In mice, >100 single gene mutations cause NTDs; however, the penetrance in many of these single gene mutant lines is highly dependent on the genetic background. We previously reported that a homozygous Cecr2 mutation on a BALB/c background causes exencephaly at a frequency of 74% compared with 0% on an FVB/N background. We now report that a major genetic modifier on chromosome 19, mapped using
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Shcherbakova, N. V., A. B. Zhironkina, V. Yu Voinova, R. A. Ildarova, and M. A. Shkolnikova. "Phenotypic variability and modifier variants in children with hereditary heart diseases." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, no. 3 (2021): 12–19. http://dx.doi.org/10.21508/1027-4065-2021-66-3-12-19.

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Despite the recent achievements in searching for the causes of monogenic human diseases, there is still a massive gap in understanding the molecular causes of phenotypic variability. At the moment, it is evident that the pathogenic genetic variant often acts together with the other genetic and non-genetic factors that can reduce or, on the contrary, aggravate the severity of the disease. Thus, to completely understand the disease, we shall consider the entire set of mechanisms leading to the resulting phenotype. This paper reviews the current state of the art in identifying genetic and non-gen
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Hyun, Cheol Hwan, Chae Young Yoon, He-Jin Lee, and Seung-Jae Lee. "LRRK2 as a Potential Genetic Modifier of Synucleinopathies: Interlacing the Two Major Genetic Factors of Parkinson’s Disease." Experimental Neurobiology 22, no. 4 (2013): 249–57. http://dx.doi.org/10.5607/en.2013.22.4.249.

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Alcaraz, Wendy A., Edward Chen, Phoebe Valdes, et al. "Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice." Human Molecular Genetics 20, no. 19 (2011): 3822–30. http://dx.doi.org/10.1093/hmg/ddr300.

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Pelucchi, Sara, Giulia Ravasi, Cristina Arosio, et al. "HIF1A: A Putative Modifier of Hemochromatosis." International Journal of Molecular Sciences 22, no. 3 (2021): 1245. http://dx.doi.org/10.3390/ijms22031245.

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HFE-related hereditary hemochromatosis (HH) is characterized by marked phenotypic heterogeneity. Homozygosity for p.C282Y is a low penetrance genotype suggesting that the HFE-HH is a multifactorial disease resulting from a complex interaction involving a major gene defect, genetic background and environmental factors. We performed a targeted NGS-based gene panel to identify new candidate modifiers by using an extreme phenotype sampling study based on serum ferritin and iron removed/age ratio. We found an increased prevalence of the HIF1A p.Phe582Ser and p.Ala588Thr variants in patients with a
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Durán, Anyelo, David A. Priestman, Macarena Las Las Heras, et al. "A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids." International Journal of Molecular Sciences 24, no. 5 (2023): 4915. http://dx.doi.org/10.3390/ijms24054915.

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Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we used a systems genetics approach: we measured 11 hepatic lysosomal enzymes and many of their natural substrates (GSLs), followed by modifier gene mapping by GWAS and transcriptomics associations in a panel of inbred strains. Unexpectedly, most GSLs showed no association between their levels and the enzyme activity that catabolizes them. Genomic mappin
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Tebbi, Cameron K. "Sickle Cell Disease, a Review." Hemato 3, no. 2 (2022): 341–66. http://dx.doi.org/10.3390/hemato3020024.

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Sickle cell disease and its variants constitute the most common inherited blood disorders affecting millions of individuals worldwide. Significant information regarding the nature of the genetic mutations and modifier genes that result in increased or decreased severity of the disease are available. In recent years, detailed data regarding molecular genetics, pathophysiology, mechanisms for the development of symptoms and side effects of sickle cell disease have been published. The relationship of physiological changes, cellular interactions, coexisting coagulation disorders, effects of associ
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Rozprawy doktorskie na temat "Genetic modifier factors"

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Shen, Yuelei. "MHC Class I Antigen Presentation is Regulated by the SUMO-Conjugating Enzyme UBC9: a Dissertation." eScholarship@UMMS, 2003. https://escholarship.umassmed.edu/gsbs_diss/111.

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CD8 T cells recognize complexes of MHC class I and peptide on the surface of target cells. MHC class I antigen presentation is a long pathway, in which proteins are degraded by proteasomes to generating oligopeptides, which may be further trimmed by aminopeptidases in the cytosol. Peptides are transported into the ER, where they may be further trimmed by ER lumenal aminopeptidases and bind to newly-synthesized MHC class I complexes. Proteins degraded by the proteasome are generally tagged with ubiquitin by a combination of ubiquitin-conjugating enzymes and ubiquitin ligases. UBC9 is one ubiqui
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Vossen, Carolina Y. "Genetic risk factors for venous thrombosis : key players or minor risk modifiers ? /." [S.l. : s.n], 2005. http://catalogue.bnf.fr/ark:/12148/cb402235083.

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Pennison, Michael James. "Constitutively Decreased Transforming Growth Factor Beta Receptor 1 (TGFBR1) Signaling Modifies Colorectal Cancer Predisposition." Thesis, Northwestern University, 2015. http://pqdtopen.proquest.com/#viewpdf?dispub=3741319.

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<p> Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the third leading cause of cancer death in the United States. Twin cohort studies indicate that inherited susceptibility accounts for approximately 35% of all CRC cases, but only 5-6% of CRC cases can be attributed to known functional mutations. We were the first to identify a germline mutation in Transforming Growth Factor Beta Receptor 1 (<i>TGFBR1</i>) that is also somatically acquired in tumors, a 9 bp in frame deletion within exon 1 (rs11466445), which results in a receptor with decreased TGF-&beta; signaling prop
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Parodi, Livia. "Identification of genetic modifiers in Hereditary Spastic Paraplegias due to SPAST/SPG4 mutations Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex Hereditary spastic paraplegia: More than an upper motor neuron disease." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS317.

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Les Paraplégies Spastiques Héréditaires (PSHs) sont un groupe de maladies neurodégénératives rares qui surviennent suite à la dégénérescence progressive des voies corticospinales, entraînant une spasticité des membres inférieurs, signe distinctif de la pathologie. Elles se caractérisent par une extrême hétérogénéité qui concerne à la fois les facteurs génétiques et cliniques, ainsi que d’autres aspects de la maladie, tels que l’âge d’apparition et la sévérité des signes. Cette variabilité est typiquement observée chez les patients porteurs de mutations pathogènes dans SPAST, le gène le plus fr
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Louis, Jeanne. "Syndrοme de Li-Fraumeni : apprοches fοnctiοnnelles visant à appréhender la variabilité génοtypique et phénοtypique". Electronic Thesis or Diss., Normandie, 2025. http://www.theses.fr/2025NORMR002.

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Le syndrome de Li-Fraumeni (LFS) prédispose les porteurs de variations pathogènes de TP53 à un large spectre de tumeurs dès l’enfance. La variabilité phénotypique du LFS complique la prise en charge des patients et peut s’expliquer en partie par le type de variations de TP53, mais également par l'influence de facteurs modificateurs génétiques. Afin d’évaluer ces facteurs modificateurs, il est nécessaire de mettre au point des tests fonctionnels adaptés.L’activité des isoformes de p53 suggère qu’elles pourraient agir comme facteurs modificateurs du LFS. C’est pourquoi nous avons mis au point de
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Olson, Theodore. "Transcriptional Regulation of Neurogenic Atrophy-Induced Gene Expression by Muscle Ring Finger-1 and Myogenic Regulatory Factors." UNF Digital Commons, 2014. http://digitalcommons.unf.edu/etd/495.

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Skeletal muscle wasting is a consequence of numerous physiological conditions, including denervation, corticosteroid treatment, immobilization, and aging. The E3 ubiquitin ligases, MuRF1 and MAFbx, are induced under nearly all atrophy conditions and are believed to play a key role in protein degradation in atrophying muscle. However, the preliminary data described in this study provides new evidence that MuRF1 may also act as a transcriptional modulator of atrophy-induced gene activity, including the regulation of MAFbx and MuRF1 expression. To characterize the transcriptional regulation of Mu
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Arnaud, Pauline. "Identification de nouveaux gènes et de facteurs de gravité dans les formes familiales d'anévrisme de l'aorte ascendante." Thesis, Sorbonne Paris Cité, 2019. http://www.theses.fr/2019USPCC098.

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Les patients atteints de syndrome de Marfan (MFS) présentent une atteinte de plusieurs systèmes, dont les systèmes cardiovasculaire, ophtalmologique et squelettique. La variabilité clinique est importante, entre individus de familles différentes, et au sein d’une même famille. L’atteinte cardiovasculaire, avec un anévrisme de l’aorte ascendante (TAA), voire une dissection aortique, conditionne le pronostic vital des patients. Le MFS ainsi que les formes familiales de TAA se transmettent selon un mode autosomique dominant. Au moins 29 gènes ont été associés à l’apparition d’un TAA. Certains cod
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Fruchon, Séverine. "Modulation de la surcharge en fer dans un modèle murin d'hémochromatose : mise en évidence de facteurs génétiques et études d'expression génique." Toulouse 3, 2004. http://www.theses.fr/2004TOU30274.

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L'hémochromatose génétique de type 1 est caractérisée par une surcharge en fer dans les organes parenchymateux. Elle est provoquée par une mutation ponctuelle (C282Y) du gène HFE, très fréquente dans les populations originaires du nord ouest de l'Europe. Des études épidémiologiques récentes mettent en évidence une pénétrance incomplète et une variabilité de l'expressivité de la maladie. Ceci peut s'expliquer par l'action de facteurs non génétiques (âge, alimentation, dons de sang réguliers. . . ) et génétiques. Pour étudier l'action de ces derniers dans l'intensité de la surcharge hépatique, n
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Winbo, Annika. "Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes." Doctoral thesis, Umeå universitet, Pediatrik, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-57724.

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Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p.R518X- commonly identified in Swedish LQTS index cases. Methods: Cases and families with LQTS (p.Y111C or p.R518X) and JLNS were recruited via regional clinical practices, national referrals to the Clinical Genetics laboratory, Umeå University Hospital, and a national inventory. Mol
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"Transgenic expression of human granulocyte colony-stimulating factor in rice." 2005. http://library.cuhk.edu.hk/record=b5892380.

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by Ng Wing Man.<br>Thesis (M.Phil.)--Chinese University of Hong Kong, 2005.<br>Includes bibliographical references (leaves 156-174).<br>Abstracts in English and Chinese.<br>Acknowledgements --- p.iii<br>Abstract --- p.v<br>摘要 --- p.vii<br>Table of Contents --- p.ix<br>List of Figures --- p.xiii<br>List of Tables --- p.xvi<br>List of Graphs --- p.xvii<br>List of Abbreviations --- p.xviii<br>Chapter Chapter 1 --- General Introduction --- p.1<br>Chapter Chapter 2 --- Literature Review --- p.3<br>Chapter 2.1 --- Human granulocyte colony-stimulating factor (hG-CSF) --- p.3<br>Chapter 2.1
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Książki na temat "Genetic modifier factors"

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Leo n, Rosa, Ph. D., Galva n. Aurora, and Ferna ndez Emilio, eds. Transgenic microalgae as green cell factories. Springer Science+Business Media/Landes Bioscience, 2007.

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Eithan, Galun, ed. The manufacture of medical and health products by transgenic plants. Imperial College Press, 2001.

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Plant transcription factors: Methods and protocols. Humana, 2011.

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Transgenic Microalgae As Green Cell Factories. Springer London, Limited, 2008.

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Transgenic Microalgae as Green Cell Factories. Springer, 2014.

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LeVine III, Harry. Genetic Engineering. 2nd ed. ABC-CLIO, 2006. http://dx.doi.org/10.5040/9798400656170.

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From Dolly the sheep to Frankenfood, life-saving medicines, and beyond, this insightful work describes the technology and controversy behind genetic engineering. From the publication of Aldous Huxley'sBrave New Worldin 1932 to the cloning of Dolly the sheep in 1996, the public has long been fascinated by the idea that humans may one day be able to mold or even create life. In less than 30 years, genetic engineering has itself mutated from science fiction to science fact. Supporters claim such innovations as genetically modified crops and gene therapy are poised to bring unparalleled benefits b
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Yang, Jin, Pei Han, Wei Li, and Ching-Pin Chang. Epigenetics and post-transcriptional regulation of cardiovascular development. Edited by José Maria Pérez-Pomares, Robert G. Kelly, Maurice van den Hoff, et al. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198757269.003.0032.

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Cardiac organogenesis requires the control of gene expression at distinct developmental windows in order to organize morphogenetic steps in the correct sequence for heart development. This is facilitated by concerted regulation at three levels: chromatin, transcription, and post-transcriptional modifications. Epigenetic regulation at the chromatin level changes the chromatin scaffold of DNA to regulate accessibility of the DNA sequence to transcription factors for genetic activation or repression. At the genome, long non-coding RNAs work with epigenetic factors to alter the chromatin scaffold
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Biopharmaceuticals in plants: Toward the next century of medicine. Taylor & Francis, 2010.

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Kwabi-Addo, Bernard, and Tia Laura Lindstrom. Cancer Causes and Controversies. ABC-CLIO, LLC, 2011. http://dx.doi.org/10.5040/9798400623189.

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This book offers clear, accessible information on the causes of cancer and the multiple ways people can reduce their risk for this insidious disease. Like no other work, this much-needed volume gathers the latest research and understanding about the causes of cancer and methods of preventing the disease—and makes it all clear and accessible to the general reader. Cancer Causes and Controversies: Understanding Risk Reduction and Prevention describes common risk factors associated with particular types of cancer, including genetic predisposition, radiation and chemical carcinogens, diet, hormona
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Części książek na temat "Genetic modifier factors"

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Spittau, Björn, Eleni Roussa, Klaus Unsicker, and Kerstin Krieglstein. "Transforming Growth Factor-Beta Superfamily: Animal Models for Development and Disease." In Genetically Modified Organisms and Genetic Engineering in Research and Therapy. S. KARGER AG, 2012. http://dx.doi.org/10.1159/000339188.

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Glatt, Stephen J., Stephen V. Faraone, and Ming T. Tsuang. "How Does the Environment Influence Schizophrenia?" In Schizophrenia. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780198813774.003.0012.

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Although there is very strong evidence for a genetic piece to schizophrenia, the lack of full concordance between identical twins shows that the environment also plays a role. We define an ‘environmental risk factor’ as any event that is not due to genes, specifically the individual differences in the DNA sequence.These events may be biological (e.g., head injuries, viral infections), psycho­logical (e.g., disrupted family relationships), or social (e.g., poverty).Over the past few decades, scientists have found evidence for environmental risk factors in at least some cases of schizophrenia. Before reviewing this research, we must make an important distinction: some environmental factors may cause or contribute to schizophrenia while others modify or change the illness in someone who is already sick. In this book we use the term ‘cause’ to refer to any factor that can produce the illness or increase the chance of illness in someone who has not yet been affected by schizophrenia. This cause does not have to be either necessary or sufficient. This means that other causes may exist that also produce the illness, and that any given cause may need to interact with other causes for the disorder to occur. We use the term ‘modifier’ to refer to anything that changes the symptoms of the illness in someone who is already affected. As we discuss in a later chapter, knowing modifiers can help with the treatment of the disorder. However, they should not be confused with causes.Scientists who study schizophrenia and other psychiatric disorders have long ago abandoned the ‘nature–nurture’ controversy. In the past, many philo­sophers and scientists had taken one of two extreme positions. Some believed that psychiatric illness was only caused by innate or genetic factors; others felt that mental illness was the sole product of adverse environmental events. Today, we know that the question ‘genes or environment?’ is too simplistic. As Dr Paul Meehl realized several decades ago, the better question is much more com­plex: ‘What group of environmental risk factors work together with which genes to produce schizophrenia?’Before discussing specific environmental risk factors that may cause schizo­phrenia we should clarify why we believe that the study of such factors is es­sential.
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Rozen, Rima. "Genetic Risk Factors for Neural Tube Defects: Variants in Folate Metabolism." In Neural Tube Defects. Oxford University PressNew York, NY, 2005. http://dx.doi.org/10.1093/oso/9780195166033.003.0015.

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Abstract Neural tube defects (NTDs) are multifactorial disorders that are influenced by genetic and nongenetic factors. Inadequate dietary folate has been recognized for some time as an important nongenetic contributor to the risk for NTD. In contrast, the identification of genetic factors that alter NTD risk is a relatively newer area of investigation. One sequence change, at bp 677 in the gene encoding a folate-metabolizing enzyme, methylenetetrahydrofolate reductase (MTHFR), has emerged as the first genetic risk factor for NTD. However, the expectation for complex traits is that combinations of genetic polymorphisms and environmental modifiers will influence the disease risk; a polymorphism is a mutation (base change or sequence variant) with a prevalence &amp;gt;1%. Consequently, other variants in MTHFR and sequence changes in other genes involved in folate metabolism are being explored as possible genetic risk factors for NTD, but additional data are required for these candidates before their role can be confirmed. This chapter will present an overview of folate metabolism, discuss the findings on MTHFR as a risk factor for NTD, and summarize the information on some of the other candidate genes in folate metabolism that have been investigated as potential risk factors.
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Shore, Angela C. "Pathogenesis of microvascular disease." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.1506.

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Disturbed microvascular function precedes clinically apparent microvascular complications. Complications are not confined to the eye and the kidney; they occur in many tissues, e.g. the heart and brain. Microvascular complications are the result of the combined effects of hyperglycaemia and haemodynamic factors on cells, modulated by genetic predisposition (Fig. 13.5.1.1). The intracellular pathway involved varies with the stage (i.e. whether in the initiation or progressive phase) and organ (kidney, eye), and may be modified by treatment. This chapter describes the generic factors involved in the pathogenesis of microvascular complications. Further details are available in recent reviews (1–10).
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Taylor, Kathleen. "4. Risk factors." In Dementia: A Very Short Introduction. Oxford University Press, 2020. http://dx.doi.org/10.1093/actrade/9780198825784.003.0004.

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Would everyone get dementia if we lived long enough? ‘Risk factors’ focuses on the genetic, environmental, and physiological factors that makes dementia more or less likely to affect us. The media often distorts scientific findings with false correlations. We must be aware of these ourselves, particularly in relation to cause and effect; a factor that we may see as a cause of dementia might be a symptom. Risk factors include age, overall poor physical and mental health, blood sugar, blood and brain function, inflammation, and not using the brain. Many of these can be modified, even the effects of ageing, but there is no single cause or one-size-fits-all solution.
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Panja, Amrita, Brahmarshi Das, Tuphan Kanti Dolai, and Sujata Maiti Choudhury. "The Key Genetic Determinants Behind the Phenotypic Heterogeneity of HbE/β-thalassemia Patients and the Probable Management Strategy." In Thalassemia Syndromes - New Insights and Transfusion Modalities [Working Title]. IntechOpen, 2023. http://dx.doi.org/10.5772/intechopen.109999.

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HbE/β-thalassemia is the most common severe form of thalassemia which is very prominent in South East Asian countries. It is responsible for nearly one-half of all the severe types of β-thalassemia all over the world. It is also known to represent a wide range of phenotypic diversity which varies from asymptomatic to transfusion-dependent severe phenotype. The most important predictive factor is mutations within the beta-globin gene (HBB). Apart from the primary genetic modifiers, there are certain other determinants regulating the phenotypic heterogeneity including, co-inheritance of alpha thalassemia mutations and other secondary modifiers including Xmn1 polymorphism, HBS1L-MYB, GATA-1, BCL11A polymorphism, and presence of HPFH mutations. Although the degree of severity is also determined by other tertiary genetic modifiers like increase in serum erythropoietin due to anemia, previous infection with malaria, environmental factors, splenectomy, etc. This review aimed to reveal the potential genetic predictors of HbE/β-thalassemia patients and the probable management strategy. This also enhances the generation of “personalized medicine” for better patient care. The instability of clinical phenotype and remarkable variation indicate careful monitoring of treatment for each patient and the therapeutic approaches should be monitored over time.
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Velankar, Radhika, Gauri Nerkar, Mukta Nagpurkar, and Kiran Jagtap. "Genetically Modified Crops: A Pivotal Endeavor in Biotechnology." In Genetically Modified Organisms [Working Title]. IntechOpen, 2024. http://dx.doi.org/10.5772/intechopen.1005578.

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Transgenic technology has significantly contributed to the genetic improvement of crop plants by improving important agronomic traits like insect/pest resistance, disease resistance, herbicide tolerance, abiotic stress tolerance, and quality improvement. Conventional breeding programs are time consuming and laborious involving screening thousands of progenies for the development of a new hybrid variety. Genetic engineering is a precise tool to develop a new variety in a short duration. Genetically Modified Crops have been used for expression of recombinant proteins of high therapeutic value, monoclonal antibodies, nutraceuticals, edible vaccines, and improved saccharification efficiency of biofuel crops for bioethanol production. The agricultural productivity is limited by global climate changes and unfavorable abiotic and biotic factors posing challenges for crop scientists to meet the rising demand for global food supply. Developing climate-resilient crops will bring more land under agriculture and more vegetation for carbon sequestration thereby annulling global warming. This chapter provides an insight into the principles, advantages, and limitations of the methods used in genetic transformation and the advancements in genome editing, agronomic traits improved in Genetically Modified Crops, potential applications of transgenic technology in biopharming and bioethanol production, biosafety and regulation of transgenic crops, and the challenges in the development of Genetically Modified Crops.
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"Genetic Principles." In DNA Fingerprinting, edited by Lorne t. Kirby. Oxford University Press, 1993. http://dx.doi.org/10.1093/oso/9780716770015.003.0005.

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Genetics is the study of heredity. Each individual’s makeup, or phenotype, is determined by nature and modified by environmental factors. DNA identity analysis is based strictly on heredity, and only in the rare case where a human had a bone marrow transplant would the white blood cell genotype differ from that inherited. Difficulties can arise with specimens because of DNA degradation or contamination by extraneous materials, and mixed cell populations could be present in tumorous tissue. The analyst must always be cognizant of these complicating factors. The concept of the gene was advanced by the Moravian monk Gregor Mendel in 1865 based on observations he made after crossing different varieties of garden peas; these experiments are considered the beginning of the discipline of genetics. (The term gene was actually coined by the Danish plant scientist W. Johannsen in the early 1900s.) Mendel formulated two laws. The law of segregation or separation states that two members of each gene pair (alleles) in a diploid organism separate to different gametes during sex cell formation. The law of independent assortment states that members of different pairs of alleles, if located on separate chromosomes or far apart on the same homologous chromosome pair, assort independently into gametes. These laws are basic to the understanding of biological family relationships and play a critical role in such contemporary issues as paternity testing and immigration disputes. The basic unit of life is the cell. Cells are microfactories in which raw materials (amino acids, simple carbohydrates, lipids, and trace elements) are received, new substances (proteins, complex lipids, carbohydrates, and nucleic acids) are produced, and wastes are removed. The thousands of different enzymes required for the myriad ongoing chemical reactions are key to the efficient functioning of cells. Each cell has the ability to self-replicate using the deoxyribonucleic acid (DNA) code as the blueprint, raw materials as building blocks, and enzymes as catalysts. It has been estimated that the average human being is composed of approximately 100 trillion cells—a considerable amount of DNA.
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Thomas, Alison. "Further Mendelian Principles." In Thrive in Genetics. Oxford University Press, 2013. http://dx.doi.org/10.1093/hesc/9780199694624.003.0003.

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This chapter investigates modified Mendelian inheritance patterns, which indicate various genetic interactions and influencing factors. Genes and their alleles are always inherited according to Mendelian principles, but the phenotypic expression of a trait does not always follow simple Mendelian patterns. Different phenotypic ratios occur among F2 progeny in Mendelian breeding experiments when alleles are incomplete or co-dominant, epistatic interactions occur between genes, and an allele is located on a sex chromosome or organelle chromosome. There may be more than two alleles possible at a given locus. The chapter then looks at multiple alleles, lethal alleles, sex-linked traits, extrachromosomal inheritance, epistasis, and pedigree analysis.
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Chen, Qiang. "Plants as Factories for the Production of Protein Biologics." In Plants, Genes & Agriculture. Oxford University Press, 2017. http://dx.doi.org/10.1093/hesc/9781605356846.003.0022.

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This chapter examines plants as factories for the production of protein biologics. Plants have been used as a source of natural pharmaceuticals for a long time, and still provide a quarter of all prescription pharmaceuticals. They are not used as a source of protein pharmaceuticals, but can be modified to produce protein-based biologics. Genes for biologics can be delivered into plant cells either directly by particle bombardment with a gene gun or indirectly through infection with modified plant viruses or Agrobacterium-mediated transformation of the nuclear genome. The chapter then looks at agroinfiltration, new vectors for gene delivery, and how a plant-manufactured biologic has been approved to treat a genetic disease in humans.
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Streszczenia konferencji na temat "Genetic modifier factors"

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Steffens Henrique, Alisson, Ricardo Martins Brasil Soares, Rudimar Luis Scaranto Dazzi, and Rodrigo Lyra. "Genetic Algorithm in Survival Shooter Games NPCs." In Computer on the Beach. Universidade do Vale do Itajaí, 2020. http://dx.doi.org/10.14210/cotb.v11n1.p413-418.

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Games must engage players by keeping them in the game flow. Tobetter define the game difficulty according to the player, GeneticAlgorithms can be used. One of the interesting characteristics ofGenetic Algorithm is that it is a non-deterministic algorithm. For theplayer’s vision, it means that enemies are unpredictable. By notknowing which NPCs he will face, the gameplay turns moreinteresting. Another amusing factor for gaming is its adaptability,causing NPCs to slowly struggle to find a way to beat the player. Thesetwo characteristics make Genetic Algorithms good tools to makegames more entert
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Einolander, Jarno, and Hannu Vanharanta. "Degree of Commitment Among Students at a Technological University – Testing a New Research Instrument." In Applied Human Factors and Ergonomics Conference. AHFE International, 2020. http://dx.doi.org/10.54941/ahfe100379.

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Just as commitment in organizations is very important for long-term success, commitment to one’s educational institute is important, too. Higher education provides the foundation for the social, economic and political growth of a country. Therefore, improving student retention by successfully delivering quality education, leading to student graduation and integration in the workforce, is crucial. It has been argued that students stay in their higher education institutes for similar reasons to those that make employees committed and engaged in organizations.In our previous studies we have creat
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Nagy, D. A., Lawrence J. Shadle, Rob Hovsapian, Manish Mohanpurkar, and D. Tucker. "A New Method for Valuing Nontraditional Stakeholder Parameters in Novel Power Systems Analysis." In ASME Power Applied R&D 2023. American Society of Mechanical Engineers, 2023. http://dx.doi.org/10.1115/power2023-108956.

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Abstract Unregulated electricity markets have shifted to a five minute time period. Generation asset (GA) valuation calculations do not take these changes and several emerging factors into account when valuing electricity GAs. A dynamic Levelized Cost of Electricity (d-LCOE) was developed to accommodate the dynamics of the electrical power markets. In addition, traditional multi-objective optimization methods have been modified to include nontraditional stakeholder parameters in valuing a project, both from a parametric sensitivity and constraint point of view. Factors are integrated into a tr
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Santhanam, Sridhar. "A Method to Extract Interface Stress Intensity Factors Using Interlayers." In ASME 2005 International Mechanical Engineering Congress and Exposition. ASMEDC, 2005. http://dx.doi.org/10.1115/imece2005-79651.

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A method is presented here to extract stress intensity factors for interface cracks in plane bimaterial fracture problems. The method relies on considering a companion problem wherein a very thin elastic interlayer is artificially inserted between the two material regions of the original bimaterial problem. The crack in the companion problem is located in the middle of the interlayer with its tip located within the homogeneous interlayer material. When the thickness of the interlayer is small compared with the other length scales of the problem, a universal relation can be established between
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Bárcena Pasamontes, Lucía, Fernando Gómez Torres, Daniel Zwick, Sebastian Schafhirt, and Michael Muskulus. "Support Structure Optimization for Offshore Wind Turbines With a Genetic Algorithm." In ASME 2014 33rd International Conference on Ocean, Offshore and Arctic Engineering. American Society of Mechanical Engineers, 2014. http://dx.doi.org/10.1115/omae2014-24252.

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This study considers the use of a genetic algorithm for the structural design optimization of support structures for offshore wind turbines. Member diameters, thicknesses and locations of nodes are jointly optimized. Analysis of each design is performed with a complete wind turbine simulation, for a load case in the time domain. Structural assessment is in terms of fatigue damage, evaluated for each joint using the hot-spot stress approach. This defines performance constraints. Designs are optimized with respect to their weight. The approach has been tested with the modified 4-legged UpWind ja
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Kaminski, Meghan, Andrew D'Hooge, and Zackery Borton. "Design Parameter Impact of Wind-Averaged Drag Optimization." In WCX SAE World Congress Experience. SAE International, 2025. https://doi.org/10.4271/2025-01-8772.

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&lt;div class="section abstract"&gt;&lt;div class="htmlview paragraph"&gt;With the increasing prevalence of electric vehicles (EVs), decreasing vehicle drag is of upmost importance, as range is a primary consideration for customers and has a direct bearing on the cost of the vehicle. While the relationship between drag and range is well understood, there exists a discrepancy between the label range and the real-world range experienced by customers. One of the factors influencing the difference is the ambient wind condition that modifies the resultant air speed and yaw angle, which is typically
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Gideon, Olugbenga, Thomas Ulrich, Roger Lew, Benjamin Barton, and Zethnouneay Dubois. "Early-Stage Usability Testing of Thermal Power Dispatch Simulator Using Novice Operators." In 15th International Conference on Applied Human Factors and Ergonomics (AHFE 2024). AHFE International, 2024. http://dx.doi.org/10.54941/ahfe1005026.

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Flexible Plant Operations and Generation (FPOG) allow nuclear power plants (NPPs) to exploit alternative, non-electric revenue streams while ensuring their sustained role as dependable and environmentally friendly sources of baseload electrical power. The surplus thermal energy produced by NPPs during periods of low electricity demand can be directed to industrial processes through a thermal power dispatch (TPD) system such as high temperature steam electrolysis (HTSE) hydrogen production. Previous work at the Idaho National Laboratory (INL) involved developing and implementing a TPD system. A
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Larsen, Glann R., Mark Metzger, Yitzak Blue, and Kim Henson. "PHARMACOKINETICS OF GENETICALLY MODIFIED T-PA IN RAT." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644614.

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To better understand the non-saturable mechanism responsible for the rapid systemic clearance of t-pa, previously demonstrated in all animal species tested so far, we have synthesized a genetically altered form of t-pa and analyzed the pharmacokinetic profile and organ distribution of this mutant. The mutant t-pa has been deleted in the fibronectin finger and epidermal growth factor domain, plus genetically modified to prevent N-linked glycosylation from occurring. Mammalian cells secreting either wild-type or mutant t-pa were radiolabeled with 35S-metnionine. The metabolically labeled t-pa wa
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Budiyanto, Agung, Erif Maha Nugraha Setyawan, Dwi Sunu Datrianto, Dony Nurcahya, and Budi Pramono. "Application of Artificial Insemination (AI) Tool Based on Oestrus Automatic Detection to Improve Goat Pregnancy in Yogyakarta." In 3rd International Conference on Community Engagement and Education for Sustainable Development. AIJR Publisher, 2023. http://dx.doi.org/10.21467/proceedings.151.3.

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This study aims to determine the level of pregnancy in goats and sheep in Indonesia, especially in the Yogyakarta area, by comparing the use of conventional AI devices with AI devices equipped with endoscopes. Many factors, including livestock, breeders, officers, spermatozoa, and environmental factors, strongly influence reproductive performance. The process of pregnancy in goats and sheep begins with the process of estrus, mating, pregnancy, birth, and postpartum estrus as the beginning of a continuous cycle. The problem found that the pregnancy rate in goats and sheep is relatively low. The
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Korkmaz, Jessica, and Raymond Ghajar. "The Modified hybrid Multi-Objective Genetic Algorithm and Loss Sensitivity Factor for Optimal Siting and Sizing of PV-Based Distributed Generation in Distribution Networks." In 2023 IEEE 4th International Multidisciplinary Conference on Engineering Technology (IMCET). IEEE, 2023. http://dx.doi.org/10.1109/imcet59736.2023.10368224.

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Raporty organizacyjne na temat "Genetic modifier factors"

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Crawford, Keith W. Genetic Susceptibility Factors in Aggressive Breast Cancer in African-American Women and the Effects of Carcinogens and Modifiers. Defense Technical Information Center, 1998. http://dx.doi.org/10.21236/ada353792.

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Fluhr, Robert, and Volker Brendel. Harnessing the genetic diversity engendered by alternative gene splicing. United States Department of Agriculture, 2005. http://dx.doi.org/10.32747/2005.7696517.bard.

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Our original objectives were to assess the unexplored dimension of alternative splicing as a source of genetic variation. In particular, we sought to initially establish an alternative splicing database for Arabidopsis, the only plant for which a near-complete genome has been assembled. Our goal was to then use the database, in part, to advance plant gene prediction programs that are currently a limiting factor in annotating genomic sequence data and thus will facilitate the exploitation of the ever increasing quantity of raw genomic data accumulating for plants. Additionally, the database was
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Handa, Avtar K., Yuval Eshdat, Avichai Perl, Bruce A. Watkins, Doron Holland, and David Levy. Enhancing Quality Attributes of Potato and Tomato by Modifying and Controlling their Oxidative Stress Outcome. United States Department of Agriculture, 2004. http://dx.doi.org/10.32747/2004.7586532.bard.

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General The final goal and overall objective of the current research has been to modify lipid hydroperoxidation in order to create desirable phenotypes in two important crops, potato and tomato, which normally are exposed to abiotic stress associated with such oxidation. The specific original objectives were: (i) the roles of lipoxygenase (LOX) and phospholipids hydroperoxide glutathione peroxidase (PHGPx) in regulating endogenous levels of lipid peroxidation in plant tissues; (ii) the effect of modified lipid peroxidation on fruit ripening, tuber quality, crop productivity and abiotic stress
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Delmer, Deborah, Nicholas Carpita, and Abraham Marcus. Induced Plant Cell Wall Modifications: Use of Plant Cells with Altered Walls to Study Wall Structure, Growth and Potential for Genetic Modification. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7613021.bard.

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Our previous work indicated that suspension-cultured plant cells show remarkable flexibility in altering cell wall structure in response either to growth on saline medium or in the presence of the cellulose synthesis inhibitor 2,-6-dichlorobenzonitrile (DCB). We have continued to analyze the structure of these modified cell walls to understand how the changes modify wall strength, porosity, and ability to expand. The major load-bearing network in the walls of DCB-adapted dicot cells that lack a substantial cellulose-xyloglucan network is comprised of Ca2+-bridged pectates; these cells also hav
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Wideman, Jr., Robert F., Nicholas B. Anthony, Avigdor Cahaner, Alan Shlosberg, Michel Bellaiche, and William B. Roush. Integrated Approach to Evaluating Inherited Predictors of Resistance to Pulmonary Hypertension Syndrome (Ascites) in Fast Growing Broiler Chickens. United States Department of Agriculture, 2000. http://dx.doi.org/10.32747/2000.7575287.bard.

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Background PHS (pulmonary hypertension syndrome, ascites syndrome) is a serious cause of loss in the broiler industry, and is a prime example of an undesirable side effect of successful genetic development that may be deleteriously manifested by factors in the environment of growing broilers. Basically, continuous and pinpointed selection for rapid growth in broilers has led to higher oxygen demand and consequently to more frequent manifestation of an inherent potential cardiopulmonary incapability to sufficiently oxygenate the arterial blood. The multifaceted causes and modifiers of PHS make
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Chamovitz, Daniel, and Albrecht Von Arnim. Translational regulation and light signal transduction in plants: the link between eIF3 and the COP9 signalosome. United States Department of Agriculture, 2006. http://dx.doi.org/10.32747/2006.7696515.bard.

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The COP9 signalosome (CSN) is an eight-subunit protein complex that is highly conserved among eukaryotes. Genetic analysis of the signalosome in the plant model species Arabidopsis thaliana has shown that the signalosome is a repressor of light dependent seedling development as mutant Arabidopsis seedlings that lack this complex develop in complete darkness as if exposed to light. These mutant plants die following the seedling stage, even when exposed to light, indicating that the COP9 signalosome also has a central role in the regulation of normal photomorphogenic development. The biochemical
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Olszewski, Neil, and David Weiss. Role of Serine/Threonine O-GlcNAc Modifications in Signaling Networks. United States Department of Agriculture, 2010. http://dx.doi.org/10.32747/2010.7696544.bard.

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Significant evidence suggests that serine/threonine-O-linked N-acetyl glucosamine0-(GlcNAc) modifications play a central role in the regulation of plant signaling networks. Forexample, mutations in SPINDLY,) SPY (an O-GlcNAc transferase,) OGT (promote gibberellin GA) (signal transduction and inhibit cytokinin responses. In addition, mutating both Arabidopsis OGTsSEC (and SPY) causes embryo lethality. The long-term goal of this research is to elucidate the mechanism by which Arabidopsis OGTs regulate signaling networks. This project investigated the mechanisms of O-GlcNAc regulation of cytokini
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Applebaum, Shalom W., Lawrence I. Gilbert, and Daniel Segal. Biochemical and Molecular Analysis of Juvenile Hormone Synthesis and its Regulation in the Mediterranean Fruit Fly (Ceratitis capitata). United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7570564.bard.

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Original Objectives and revisions: (1) "To determine the biosynthetic pathway of JHB3 in the adult C. capitata CA in order to establish parameters for the future choice and synthesis of suitable inhibitors". Modified: to determine the pattern of FR-7 biosynthesis during normal reproductive maturation, and identify enzymes potentially involved in its synthesis. (2) "To correlate allatal epoxidase activity to the biosynthesis of JHB3 at different stages of reproductive maturation/vitellogenesis and evaluate the hypothesis that a specific JH-epoxidase may be rate limiting". Modified: to study the
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Barash, Itamar, and Robert E. Rhoads. Translational Mechanisms that Govern Milk Protein Levels and Composition. United States Department of Agriculture, 2004. http://dx.doi.org/10.32747/2004.7586474.bard.

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Original objectives: The long term objective of the project is to achieve higher content of protein in the milk of ruminants by modulating the translational machinery in the mammary gland. The first specific aim of the BARD proposal was to characterize responsiveness of various experimental systems to combination of lactogenic hormones and amino acids with particular emphasis on discrimination between the control of total protein synthesis and milk protein synthesis. Based on the results, we planned to proceed by characterizing the stage of protein synthesis in which the stimulation by lactoge
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Glazer, Itamar, Alice Churchill, Galina Gindin, and Michael Samish. Genomic and Organismal Studies to Elucidate the Mechanisms of Infectivity of Entomopathogenic Fungi to Ticks. United States Department of Agriculture, 2013. http://dx.doi.org/10.32747/2013.7593382.bard.

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The overall goal of this research was to elucidate the factors affecting early development of Metarhizium spp. (previously named M. anisopliae) on ticks or tick cuticle extracts and the molecular basis of these early infection processes. The original objectives were: 1. Characterize the pre-penetration events (adhesion, germination and appressorium formation) of spores of M. anisopliae strains with high or low virulence during tick infection. 2. Create GFP-expressing strains of M. anisopliae tick pathogens having high and low virulence to compare their progress of infection by microscopy. 3. U
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