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Books on the topic 'SITE MUTATION'

Author: Grafiati

Published: 11 September 2023

Last updated: 31 July 2025

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1

Institut d'aménagement et d'urbanisme de la région d'Île de France., ed. La mutation du site de Billancourt: Contexte et enjeu d'un projet. I.A.U.R.I.F., 1990.

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2

J, McPherson M., ed. Directed mutagenesis: A practical approach. IRL Press, 1991.

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3

McPherson, M.J., (Ed.), ed. Directed Mutagenesis: A Practical Approach. I.R.L. P., 1991.

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4

R, Ballain, ed. Sites urbains en mutation: Territoires et trajectoires. L'Harmattan, 1990.

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5

Meslé, Jean-Yves. SMN, Société métallurgique de Normandie: Mémoires et mutations d'un site industriel. OREP, 2013.

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6

editor, Curnier Sonia author, and Fisher Xavier author, eds. En mutation: Conceptions urbaines : projets contemporains de reconversion de sites industriels en Suisse. Infolio, 2015.

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7

Khan, Amir R. Mutational and structural analysis of second-site transmembrane region mutants of phage M13 coat protein. National Library of Canada, 1993.

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8

Association des directeurs immobiliers (France). Reconvertir les friches industrielles et urbaines: De la transformation réussie des sites à la mutation des territoires. Moniteur, 2015.

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9

McPherson, M. J. Directed Mutagenesis: A Practical Approach (Practical Approach Series). Oxford University Press, USA, 1991.

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10

McPherson, M. J. Directed Mutagenesis: A Practical Approach (The Practical Approach Series). Oxford University Press, USA, 1991.

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11

Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its

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12

Walsh, Bruce, and Michael Lynch. The Genetic Effective Size of a Population. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0003.

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The effects of genetic drift usually assume an idealized population of constant size. This chapter shows how the population size for such an idealized population can be replaced with an effective population size for populations with age structure, unequal sex ratios, a history of expansion or contraction, inbreeding, and population subdivision. These demographic features impact the entire genome more or less equally. A relatively recent understanding is that selection at a site can dramatically reduce the local effective population size experienced by nearby linked sites (the Hill-Robertson ef

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13

Eisen, Andrew. Motor neurone disease. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0009.

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In this chapter, the following ten key events in motor neurone disease, also known as amyotrophic lateral sclerosis (ALS), are considered: the first description of ALS by Cruveilhier; discovery of the first SOD1 mutation; use of the ALSFRS (functional rating scale) for determining therapeutic trial outcomes; the contentious issue of establishing the site of onset of ALS; clinical, pathological, and molecular evidence indicating that frontotemporal dementia and ALS are closely related; demonstration that ALS bears some resemblance to the transmissible spongiform encephalopathies; use of Riluzol

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14

Walsh, Bruce, and Michael Lynch. The Nonadaptive Forces of Evolution. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0004.

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This chapter examines the relative strengths of the nonadaptive evolutionary forces (drift, mutation, recombination) acting on genomes. It reviews estimators for effective population size, mutation rate, and recombination rate, and summarizes the known genomic results over a wide range of taxa. The mutation rate tends to be lower in organisms with larger effective population sizes, consistent with the drift-barrier hypothesis wherein selection is ineffective when it is less than the reciprocal of the effective population size.

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15

Frankham, Richard, Jonathan D. Ballou, Katherine Ralls, et al. Loss of genetic diversity reduces ability to adapt. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198783398.003.0004.

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Environmental change is a ubiquitous feature of the conditions faced by species, so they must either evolve, move to avoid threats, or perish. Species require genetic diversity to evolve to cope with environmental change through natural selection (adaptive evolution). The ability of populations to undergo adaptive evolution depends upon the strength of selection, genetic diversity, effective population size, mutation rates and number of generations. Loss of genetic diversity in small populations reduces their ability to evolve to cope with environmental change, thus increasing their extinction

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16

Walsh, Bruce, and Michael Lynch. Long-term Response: 2. Finite Population Size and Mutation. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0026.

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In a finite population, drift is often more important than selection in removing any initial additive variance. This chapter examines the joint impact of selection, drift, and mutation on the long-term response in a quantitative trait. One key result is the remarkable finding of Robertson that the expected long-term response from any initial additive variance is bounded above by the product of twice the effective population size times the initial response. This result implies that the optimal selection intensity for long-term response it to save half of the population in each generation.

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17

Schmeink, Lars. The Utopian, the Dystopian, and the Heroic Deeds of One. Liverpool University Press, 2017. http://dx.doi.org/10.5949/liverpool/9781781383766.003.0006.

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Chapter 6 discusses the TV series Heroes as more optimistic in its depiction of the social consequences of posthuman evolution than the other texts analyzed. The show's premise of posthumanity as a result of evolutionary mutation reflects radical changes in subjectivity not onto an elite few, as in classic superhero narratives, but onto the everyday man. The series consequently emphasizes the potential of the posthuman condition as a catalyst for global social and political change – a solution to the 'big issues' that elude the current institutions of power. The posthuman becomes the site of s

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18

Walsh, Bruce, and Michael Lynch. Hitchhiking and Selective Sweeps. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0008.

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When a favorable allele increases in frequency, it alters the coalescent structure (the pattern of times back to a common ancestor) at linked sites relative to that under drift. This creates patterns of sequence polymorphism than can be used to potentially detect ongoing, or very recent, selection. This idea of a neutral allele hitchhiking up to high frequency when coupled to a favorable allele is the notion of a selective sweep, and this chapter reviews the considerable body of associated population-genetics theory on sweeps. Different types of sweeps leave different signatures, resulting in

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19

Frankham, Richard, Jonathan D. Ballou, Katherine Ralls, et al. Evolutionary genetics of small populations. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198783398.003.0002.

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Genetic management of fragmented populations involves the application of evolutionary genetic theory and knowledge to alleviate problems due to inbreeding and loss of genetic diversity in small population fragments. Populations evolve through the effects of mutation, natural selection, chance (genetic drift) and gene flow (migration). Large outbreeding, sexually reproducing populations typically contain substantial genetic diversity, while small populations typically contain reduced levels. Genetic impacts of small population size on inbreeding, loss of genetic diversity and population differe

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20

Saleem, Moin A., and Corinne Antignac. Molecular basis of nephrotic syndrome. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0327_update_001.

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Nephrotic syndrome is broadly a disorder of the glomerular filtration barrier, but in practice the site of dysfunction in the great majority of pathologies is in the podocyte. Genetic causes of nephrotic syndrome provide the strongest proof of this. Almost all the genetic associations with nephrotic syndrome are podocyte proteins. Some basement membrane protein mutations associated with nephrotic syndrome may act through signalling to podocytes, or by causing severe disruption to their environment.

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21

Krupkin, Alexander Bennett. Chloroplast DNA phylogeny of hard pines (subgenus Pinus): Inference from site mutations and multiple small (1-10 Kb) inversions. 1992.

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22

Wagner, Carsten A., and Olivier Devuyst. Renal acid–base homeostasis. Edited by Robert Unwin. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0024.

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The kidney is central to acid–base homeostasis. Major processes are reabsorption of filtered bicarbonate, de novo synthesis of bicarbonate from ammoniagenesis, and net excretion of protons. The latter requires buffers such as ammonium, phosphate, citrate and other bases binding protons (so-called titratable acids). The proximal tubule is the major site of bicarbonate reabsorption and only site of ammoniagenesis. The thick ascending limb and the distal convoluted tubule handle ammonia/ammonium and complete bicarbonate reabsorption. The collecting duct system excretes protons and ammonium, but m

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23

Sage, Evelyne, Regen Drouin, Donat P. Hader, Mahmoud Rouabhia, and Giulio Jori. From DNA Photolesions to Mutations, Skin Cancer and Cell Death. Royal Society of Chemistry, The, 2007.

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24

Schreuder, Michiel F. Renal tubular dysgenesis. Edited by Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0350.

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Renal tubular dysgenesis involves the absence or incomplete differentiation of proximal tubular nephron segments. Due to the lack of a patent nephron, it is characterized by (fetal) anuria and subsequent oligohydramnios, pulmonary hypoplasia, premature birth with severe and refractory arterial hypotension, and fetal or neonatal death. The main cause for renal tubular dysgenesis is a genetic mutation in the renin–angiotensin system, which has shown an autosomal recessive trait. Maternal use of angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers during pregnancy can have

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25

Sayer, John A., and Roslyn J. Simms. Nephronophthisis. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0317_update_001.

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Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a child with polyuria and secondary enuresis. Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists. Mutations in 18 genes have been identifi

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26

Joyner, Alexandra, ed. Gene Targeting. Oxford University Press, 1999. http://dx.doi.org/10.1093/oso/9780199637928.001.0001.

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Since the publication of the first edition of Gene Targeting: A Practical Approach in 1993 there have been many advances in gene targeting and this new edition has been thoroughly updated and rewritten to include all the major new techniques. It provides not only tried-and-tested practical protocols but detailed guidance on their use and applications. As with the previous edition Gene Targeting: A Practical Approach 2e concentrates on gene targeting in mouse ES cells, but the techniques described can be easily adapted to applications in tissue culture including those for human cells. The first

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27

Matthew Kynes, J. Hemophilia (Presentation in Emergency Surgery). Edited by Matthew D. McEvoy and Cory M. Furse. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190226459.003.0085.

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Hemophilia is a complex disease of variable severity that affects clotting function and has significant implications in perioperative and emergency care. Hereditary or de novo mutations cause deficiencies in factor VIII or IX production, which may manifest as spontaneous bleeding into joint spaces, muscles, or other sites in severe forms of the disease. Intracranial bleeding is one of the most serious and often fatal complications. In a patient with abnormal bleeding, laboratory results indicative of hemophilia include an increased partial prothromboplastin time (PT), with normal prothrombin t

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28

Mordden, Ethan. Fosse & Verdon and Kander & Ebb. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190651794.003.0008.

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This chapter chronicles the rise of Gwen Verdon and Bob Fosse as well as John Kander and Fred Ebb in the theatre industry. Their careers reveal how much the musical was transforming itself by the late 1940s, and how comfortably it moved between musical comedy and the musical play, uncovering ways of aligning them in innovative mutations. Moreover, the musical had come to amalgamate the responsibilities of director and choreographer and make the rise of the naturalistic actor not only possible but necessary. In a way, one could say that a Chicago musical was unthinkable until the liberation of

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29

Cassidy, Jim, Donald Bissett, Roy A. J. Spence OBE, Miranda Payne, Gareth Morris-Stiff, and Madhumita Bhattacharyya. Breast cancer. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199689842.003.0014_update_001.

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Thoracic cancer examines the epidemiology, aetiology, and role of screening and prevention in the reduction of deaths from lung cancer, the majority caused by cigarette smoking. The pathology and genetics of lung cancer, with particular note of the driver mutations, are followed by the symptoms and signs of the disease. Appropriate investigations are described to stage the tumour. The optimum treatment for localised non-small cell lung cancer (NSCLC) is surgical resection, followed in some cases by adjuvant chemotherapy. However, most cases present with disease too advanced for surgery, and fo

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30

Arnodlz, Justin. Python for Hackers and Pentesters Full Guides: You'll Explore the Darker Side of Python's Capabilities--Writing Network Sniffers, Stealing Email Credentials, Brute Forcing Directories, Crafting Mutation Fuzzers, Infecting Virtual Machines... . Independently Published, 2021.

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31

Monani, Umrao R., and Darryl C. De Vivo. Spinal Muscular Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0033.

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Spinal muscular atrophy (SMA) is a common, inherited, pediatric motor neuron disorder caused by insufficient SMN protein. As of yet, there is no good treatment for the disease. SMA has an incidence of ~1 in 10,000 newborns carrier frequency of 1 in 50, making it the most common inherited cause of infant mortality. Patients with severe SMA, or Werdnig-Hoffman disease, typically manifest weakness during the first 6 months of life. Such patients are so debilitated that they never sit independently, frequently succumbing to the disease before age 2 years. A much milder form of SMA, Kugelberg-Welan

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32

Budimirovic, Dejan B., and Megha Subramanian. Neurobiology of Autism and Intellectual Disability. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0052.

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Fragile X syndrome (FXS) is a neurodevelopmental disorder that manifests with a range of cognitive, behavioral, and social impairments. It is a monogenetic disease caused by silencing of the FMR1 gene, in contrast to autism spectrum disorder (ASD) that is a behaviorally-defined set of complex disorders. Because ASD is a major and growing public health concern, current research is focused on identifying common therapeutic targets among patients with different molecular etiologies. Due to the prevalence of ASD in FXS and its shared neurophysiology with ASD, FXS has been extensively studied as a

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33

Clarke, Andrew. Temperature and diversity. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780199551668.003.0015.

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The diversity (species richness) of plants and animals is typically highest in the tropics and the strongest environmental correlate of species richness is often climate. The energy for plant production is sunlight, but the rate is governed jointly by temperature and the availability of water (as captured by actual evapotranspiration, AET). Greater production is then linked to higher diversity because larger population size protects against stochastic extinction (the more individuals mechanism). A greater biomass and diversity of plants allows for a greater diversity of herbivores and so on th

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34

Matiazzi, Estevam. O Desvelar da Poesia. Brazil Publishing, 2021. http://dx.doi.org/10.31012/978-65-5861-754-9.

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Estevam Matiazzi’s poetics are memorably reflected in the title of his colorful poem collection, most of which are written in poetic prose, with singular didacticism. “Life Seen Through Windows: before and beyond them” is a work marked by movements and approaches in a mutating world view, that established relations with its time. ‘Drunken times’, actually, pandemic times, Covid-19 times. In a cathartic process, the poetic persona gazes outside his window, a narrow spaces’ view that creates an egregore of love. Engaged in the notion of roughness within the historical moment, he creates poems, c

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35

Zhang, Marina, Mark Dodgson, and David Gann. Demystifying China's Innovation Machine. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780198861171.001.0001.

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China’s extraordinary economic development is explained in large part by the way it innovates. This book explains how it innovates, which has important implications not only for China but also for the rest of the world. Contrary to widely held views, China’s innovation machine is not created and controlled by an all-powerful government. Instead, it is a complex, interdependent system composed of hundreds of millions of elements, involving bottom-up innovation driven by innovators and entrepreneurs and highly pragmatic and adaptive top-down policy. Using case studies of leading firms and indust

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36

Lamb, Jonathan, ed. A Cultural History of the Sea in the Age of Enlightenment. Bloomsbury Publishing Plc, 2021. http://dx.doi.org/10.5040/9781474207225.

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This volume covers a period when Europeans were making great advances in the production and application of pure knowledge, especially in the fields of navigation and discovery. Thus European powers gained empires around the globe and the benefits that came with them, while the rest of the world had to be content with supplying the raw material (i.e labour, bullion, wood, plants, ore) of these good things. This would not have been possible without navies and trading monopolies, enterprises in which the freedom of the seas was disputed, then gained or lost. The essays in this volume range betwee

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37

Eisen, Tim. The patient with renal cell cancer. Edited by Giuseppe Remuzzi. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0172.

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Renal cancer is the commonest malignancy of the kidney and worldwide, accounts for between 2% and 3% of the total cancer burden. The mainstay of curative treatment remains surgery. There have been significant advances in surgical technique, the most important ones being nephron-sparing surgery and laparoscopic nephrectomy. The medical treatment of advanced renal cell cancer has only improved markedly in the last decade with the development of antiangiogenic tyrosine-kinase inhibitors, inhibitors of mammalian target of rapamycin, and a diminished role for immunotherapy.Tyrosine-kinase inhibitor

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38

Grant, Warren, and Martin Scott-Brown. Principles of oncogenesis. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0322.

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It is obvious that the process of developing cancer—oncogenesis—is a multistep process. We know that smoking, obesity, and a family history are strong independent predictors of developing malignancy; yet, in clinics, we often see that some heavy smokers live into their nineties and that some people with close relatives affected by cancer spend many years worrying about a disease that, in the end, they never contract. For many centuries scientists have struggled to understand the process that make cancer cells different from normal cells. There were those in ancient times who believed that tumo

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