Books on the topic 'Gene overlaps'
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1
Christa, Landert, ed. "Wenn du absolut nach Amerika willst, so gehe in Gottesnamen!": Erinnerungen an den California Trail, John A. Sutter und den Goldrausch 1846-1849. 2nd ed. Zürich: Limmat-Verlag, 2011.
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Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. The genetics of axial spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0004.
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Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap with other spondyloarthritis conditions. Of these, ERAP1 and IL-23R, are covered in more detail, highlighting their functional importance.
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Smith-Hicks, C. L., and S. Naidu. Rett Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0054.
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Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with classic RTT have mutations in the MeCP2 gene.
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Holdt, Lesca M., and Daniel Teupser. Genetic background of atherosclerosis and its risk factors. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199656653.003.0002.
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This chapter is concerned with how atherosclerosis risk is modulated by a complex interplay between genetic and environmental risk factors. The contribution of genetics to the variability of atherosclerosis risk is estimated as 50%. Recent genome-wide association studies have led to the identification of over 50 gene variants which modulate atherogenesis. Risk factors for atherosclerosis are also partly genetically determined and some of the variants which play a role in atherogenesis overlap with those modulating its risk factors. However, the current relevance of these findings for clinical practice is limited, mainly due to the small effect sizes of identified risk variants with insufficient discriminatory power, and a large portion of the genetic contribution to atherosclerosis is still unknown. The major promise therefore lies in understanding the pathophysiology of newly identified genes with the perspective of novel therapeutic approaches.
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Kan, Carol, and Ma-Li Wong. Genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198789284.003.0004.
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An association between type 2 diabetes mellitus (T2DM) and depression has been reported in epidemiological studies. Finding a genetic overlap between T2DM and depression will provide evidence to support a common biological pathway to both disorders. Genetic correlations observed from twin studies indicate that a small magnitude of the variance in liability can be attributed to genetic factors. However, no genetic overlap has been observed between T2DM and depression in genome-wide association studies using both the polygenic score and the linkage disequilibrium score regression approaches. Clarifying the shared heritability between these two complex traits is an important next step towards better therapy and treatment. Another area that needs to be explored is gene–environment interaction, since genotypes can affect an individual’s responses to the environment and environment can differentially affect genotypes expression.
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Garcia-Pavia, Pablo, and Fernando Dominguez. Left ventricular non-compaction: genetics and embryology. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0362.
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Left ventricular non-compaction (LVNC) is a rare disorder that is considered an ‘unclassified cardiomyopathy’ by the European Society of Cardiology. Several different gene mutations related to LVNC have been identified, involving sarcomeric, cytoskeletal, Z-line, ion channel, mitochondrial, and signalling proteins. However, there is broad genetic overlap between LVNC and other inherited cardiac diseases such as dilated cardiomyopathy and hypertrophic cardiomyopathy. LVNC could also be part of multisystemic genetic entities such as Barth syndrome, or accompany congenital heart defects.
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Levinson, Douglas F., and Walter E. Nichols. Genetics of Depression. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0024.
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Major depressive disorder (MDD) is a common and heterogeneous complex trait. Twin heritability is 35%–40%, perhaps higher in severe/recurrent cases. Adverse life events (particularly during childhood) increase risk. Current evidence suggests some overlap in genetic factors among MDD, bipolar disorder, and schizophrenia. Large genome-wide association studies (GWAS) are now proving successful. Polygenic effects of common SNPs are substantial. Findings implicate genes with effects on synaptic development and function, including two obesity-associated genes (NEGR1 and OLFM4), but not previous “candidate genes.” It can now be expected that larger GWAS samples will produce additional associations that shed new light on MDD genetics.
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Straaijer, Robin. The usage guide. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198808206.003.0002.
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Drawing on data from the Hyper Usage Guide of English (HUGE) database (Straaijer 2014), this chapter sets the context for the other chapters of the collection by exploring the usage guide as a genre since the earliest publication in 1770. While modern usage guides overlap in form and content with other genres of works about language, there are distinct characteristics that identify them as a separate genre. After this genre had slowly been evolving for 150 years, H. W. Fowler’s Dictionary of Modern English Usage (1926) became a model for future publications. However, the usage guide remains a strongly author-driven genre, resulting in much variation in form and content. After continued development and professionalization from the mid-twentieth century onwards, two subtypes within the genre seem to have emerged: one striving for comprehensiveness and the other offering entertaining narrative. This variety may account for the enduring popularity of the genre.
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Franks, David D. Sex Differences in the Human Brain. Edited by Rosemary L. Hopcroft. Oxford University Press, 2018. http://dx.doi.org/10.1093/oxfordhb/9780190299323.013.6.
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In this chapter, the different meanings of the terms sex and gender are discussed: Sex is biological, and gender has to do with social roles. Biological differences such as genes are discussed next, including a discussion of whether these differences should be considered as either/or distinctions or as continuums. Differences in social skills are discussed. Next, differences in the brain’s gray and white matter are explored. Various parts of the brain and the abilities they support are then presented. How sex differences in the brain complement each other is explored, as well as differences and overlaps. The implications for single-sex education are presented. Reasons to discuss brain differences and other differences follow, including sleep problems, anorexia, and bulimia. A subsection on memory and emotion follows.
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Oxley, Cristal, and Argyris Stringaris. Comorbidity. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0022.
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Anxiety and depression often co-occur in children with ADHD and this comorbidity can also occur across the lifespan. Such comorbidity is associated with adverse outcomes across several domains. The origin of the overlap between these disorders is discussed, including the role of shared risk factors such as common genes, environmental factors, potential association with a third disorder, or as a separate nosological entity. Abnormalities in neurochemistry and findings from imaging studies are discussed. Key components of clinical assessment are discussed together with differential diagnoses, including challenges that clinicians may encounter. Treatment approaches for comorbid ADHD with emotional disorders are outlined.
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Lewis, Myles, and Tim Vyse. Genetics of connective tissue diseases. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0042.
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The advent of genome-wide association studies (GWAS) has been an exciting breakthrough in our understanding of the genetic aetiology of autoimmune diseases. Substantial overlap has been found in susceptibility genes across multiple diseases, from connective tissue diseases and rheumatoid arthritis (RA) to inflammatory bowel disease, coeliac disease, and psoriasis. Major technological advances now permit genotyping of millions of single nucleotide polymorphisms (SNPs). Group analysis of SNPs by haplotypes, aided by completion of the Hapmap project, has improved our ability to pinpoint causal genetic variants. International collaboration to pool large-scale cohorts of patients has enabled GWAS in systemic lupus erythematosus (SLE), systemic sclerosis and Behçet's disease, with studies in progress for ANCA-associated vasculitis. These 'hypothesis-free' studies have revealed many novel disease-associated genes. In both SLE and systemic sclerosis, identified genes map to known pathways including antigen presentation (MHC, TNFSF4), autoreactivity of B and T lymphocytes (BLK, BANK1), type I interferon production (STAT4, IRF5) and the NFκB pathway (TNIP1). In SLE alone, additional genes appear to be involved in dysregulated apoptotic cell clearance (ITGAM, TREX1, C1q, C4) and recognition of immune complexes (FCGR2A, FCGR3B). Future developments include whole-genome sequencing to identify rare variants, and efforts to understand functional consequences of susceptibility genes. Putative environmental triggers for connective tissue diseases include infectious agents, especially Epstein-Barr virus; cigarette smoking; occupational exposure to toxins including silica; and low vitamin D, due to its immunomodulatory effects. Despite numerous studies looking at toxin exposure and connective tissue diseases, conclusive evidence is lacking, due to either rarity of exposure or rarity of disease.
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Money, Nicholas P. 3. Microbial genetics and molecular microbiology. Oxford University Press, 2014. http://dx.doi.org/10.1093/actrade/9780199681686.003.0003.
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Cell structures and metabolic processes are specified by genes. The genomes of bacteria, archaea, and eukaryotic microorganisms are encoded in double-stranded helices of DNA. ‘Genetics and molecular microbiology’ explains that advances in sequencing techniques and the development of automated sequencing methods have allowed scientists to sequence the genomes of 4,000 bacterial genomes, 200 archaea, and 200 eukaryotes. Genome sizes vary a great deal within each category of microorganism and the largest prokaryote genomes overlap the smallest eukaryote genomes. Natural mutations in microorganisms play a primary role in evolution. Reproduction in prokaryotes is always asexual, whereas mechanisms of sexual reproduction have been studied in eukaryotic microorganisms belonging to all of the supergroups.
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Parkes, Joanna E., Simon Rothwell, and Janine A. Lamb. Aetiology and pathogenesis. Edited by Hector Chinoy and Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0003.
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The aetiology and pathogenesis of idiopathic inflammatory myopathies (IIM) is poorly understood; IIM are thought to result from exposure to environmental factors in genetically susceptible individuals. Both innate and adaptive immune responses are involved in IIM, and there is increasing evidence that non-inflammatory mechanisms play an important role in disease pathology. Several environmental risk factors, including infectious agents, ultraviolet radiation, cigarette smoking, and exposure to statins, have been implicated. Genetic studies have identified the major histocompatibility complex as the most strongly associated region, while recent large scale genome-wide studies have implicated genes that commonly regulate the adaptive immune response, which overlap with other seropositive autoimmune diseases. Integrating data across these various fields should facilitate refined models of disease pathogenesis.
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González-López, Irene, and Michael Smith, eds. Tanaka Kinuyo. Edinburgh University Press, 2018. http://dx.doi.org/10.3366/edinburgh/9781474409698.001.0001.
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This is the first book in English dedicated to the actress and director Tanaka Kinuyo. Praised as amongst the greatest actors in the history of Japanese cinema, Tanaka’s career spanned the industrial development of cinema - from silent to sound, monochrome to colour. Alongside featuring in films by Ozu, Mizoguchi, Naruse and Kurosawa, Tanaka was also the only Japanese woman filmmaker between 1953 and 1962, and her films tackled distinctly feminine topics such as prostitution and breast cancer. Because her career overlaps with a transformative period in Japan, especially for women, this close analysis of her fascinating life and work offers new perspectives into the Japanese history of women and classical era of national cinema. The first half of the book focuses on Tanaka as actress and analyses the elements and meanings associated with her star image, and her powerful embodiment of diverse, at times contradictory, ideological discourses. The second half is dedicated to Tanaka as director and explores her public image as filmmaker and her depiction of gender and sexuality against the national history in order to reflect on her role and style as author. With a special focus on the melodrama genre and on the sociopolitical and economic contexts of film production, the book offers a revision of theories of stardom, authorship, and women’s cinema. In examining Tanaka’s iconic reification of femininities in relation to politics, national identity, and memory, the chapters shed light on the cultural construction of female subjectivity and sexuality in Japanese popular culture.
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Walden, Joshua S. Musical Portraits. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190653507.001.0001.
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This book explores the wide-ranging but underexamined genre of musical portraiture. It focuses in particular on contemporary and experimental music created between 1945 and the present day, an era in which conceptions of identity have changed alongside increasing innovation in musical composition as well as in the uses of abstraction, mixed media, and other novel techniques in the field of visual portraiture. In the absence of physical likeness, an element typical of portraiture that cannot be depicted in sound, composers have experimented with methods of constructing other attributes of identity in music, such as character, biography, and profession. By studying musical portraits of painters, authors, and modern celebrities, in addition to composers’ self-portraits, the book considers how representational and interpretive processes overlap and differ between music and other art forms, as well as how music is used in the depiction of human identities. With focus on a range of musical portraits by composers including Peter Ablinger, Pierre Boulez, Morton Feldman, Philip Glass, György Ligeti, and Virgil Thomson, and through studies of director Robert Wilson’s ongoing series of video portraits of modern-day celebrities and his “portrait opera” Einstein on the Beach, Musical Portraits offers to contribute to the study of music since 1945 through a detailed examination of contemporary understandings of music’s capacity to depict identity, and of the intersections between music, literature, theater, film, and the visual arts.
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Costigan, Ruth, and Richard Stone. Civil Liberties & Human Rights. Oxford University Press, 2017. http://dx.doi.org/10.1093/he/9780198744276.001.0001.
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Course-focused and comprehensive, the Textbook on series provide an accessible overview of the key areas on the law curriculum. Textbook on Civil Liberties and Human Rights provides an account of this area of law. This work covers all the main topics in the field of civil liberties and human rights. It provides coverage of crucial areas such as police powers, freedom of expression, terrorism, and public order. A thematic approach helps readers to appreciate the overlap and interconnected nature of the subject, and the close association between the different articles of the European Convention. Topics new to this edition include: Austin v UK on kettling and the deprivation of liberty; von Hannover v Germany (No 2) and Springer v Germany on privacy; Othman (Abu Qatada) v UK on asylum and fair trial rights; O’Donoghue and Others v UK on the right to marry; the Supreme Court’s views in R v Gul on the definition of terrorism; the Court of Appeal’s rulings in Hall v Bull and Black v Wilkinson on discrimination on grounds of sexual orientation where this conflicts with religious beliefs; Att Gen v Davey on contempt and the internet; and the Anti-Social Behaviour and Policing Act, which will replace ASBOs with Injunctions to Prevent Nuisance and Disorder.