Books: 'Gene frequency'

7

Metin, Akay, and IEEE Engineering in Medicine and Biology Society., eds. Time frequency and wavelets in biomedical signal processing. IEEE Press, 1998.

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8

Genetic Data Analysis 2: Methods for Discrete Population Genetic Data. 2nd ed. Sinauer Associates, 1996.

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9

Clarke, B. C., and Linda Partridge. Frequency-dependent Selection. The Royal Society, 1988.

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10

Hughes, Gene. Gene Hughes Police Call Frequency Guide: Codes, Maps, Trunking. United States Radio Data, 1988.

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11

Genetic data analysis: Methods for discrete population genetic data. Sinauer Associates, 1990.

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12

Introduction to Population Genetics: Theory and Applications. Oxford University Press, Incorporated, 2017.

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13

(Editor), Montgomery Slatkin, and Michel Veuille (Editor), eds. Modern Developments in Theoretical Population Genetics: The Legacy of Gustave Malecot. Oxford University Press, USA, 2002.

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14

(Editor), Montgomery Slatkin, and Michel Veuille (Editor), eds. Modern Developments in Theoretical Population Genetics: The Legacy of Gustave Malecot. Oxford University Press, USA, 2002.

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15

Franke, Barbara, and Jan K. Buitelaar. Gene–environment interactions. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0005.

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ADHD is highly heritable, but environmental factors also play significant roles in disease aetiology and outcome. Genetic and environmental influences are likely to show different types of interplay, with gene–environment interactions (G×E) playing a part. Different models of G×E exist, with the most frequently investigated in ADHD up to the present being the diathesis–stress and differential susceptibility models. The most frequently studied have been monoaminergic genes, often based on a single genetic variant. Only a single genome-wide study has been reported thus far. Environmental factors

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16

Beattie, R. Mark, Anil Dhawan, and John W.L. Puntis. Hirschsprung's disease. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0039.

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Hirschprung's disease 280Neuronal intestinal dysplasia 281Intestinal pseudo-obstruction 281Hirschsprung's disease is the absence of ganglion cells in the myenteric plexus of the most distal bowel. Presentation is with constipation. Incidence is 1 in 5000. Long-segment Hirschsprung's disease is familial, with equal sex incidence. The gene is on chromosome 10. It is associated with Down's syndrome and there is a high frequency of other congenital abnormalities....

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17

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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18

Turner, Neil, Teena Tandon, and Rajiv Agarwal. APOL1 and renal disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0341_update_001.

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Although apolipoprotein L1 (APOL1) is not known to be a direct cause of renal disease, it has emerged as a powerful cofactor in several important conditions. APOL1 gene polymorphisms account for the restriction of HIV-associated collapsing focal segmental glomerulosclerosis (FSGS) to those with African ancestry. In Africa, the disease-predisposing alleles seem to have been selected for because they convey resistance to some strains of trypanosomiasis. The same alleles are associated with increased susceptibility to primary FSGS, and are probably able to fully account for the excess of FSGS in

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19

RF MEMS circuit design for wireless communications. Artech House, 2002.

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20

Paris, Joel. The Relationship Between Childhood Adversity and Borderline Personality Disorder. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199997510.003.0005.

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Borderline personality disorder (BPD) is often associated with adverse events in childhood. However, early adversity does not necessarily lead to BPD, and not all BPD patients have experienced childhood adversity. The key to understanding this relationship is gene-environment interaction. Children who are vulnerable by temperament are more severely affected by adverse events. This “double hit” is a risk for developing a personality disorder. The missing piece in research on adversity and BPD is longitudinal data. This could involve research in community samples, but the frequency of BPD as an

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21

Baumann, Nicole, and Jean-Claude Turpin. Metachromatic Leukodystrophy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0052.

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Metachromatic leukodystrophy can be observed in infantile, juvenile, and adult cases. It is due to deficiency of the enzyme sulfatide sulfatase arylsulfase A. The adult form includes two types—one characterized by predominantly central nervous system motor signs (mainly pyramidal and/or cerebellar) and a peripheral neuropathy, and the other presenting with behavioral abnormalities and progressive mental deterioration. Homozygosity for the P426L mutation is very frequent in motor forms of adult MLD and heterozygosity for the I179S is very frequently found in psychiatric forms. Hematopoietic ste

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22

Rees, David. Haemoglobinopathies. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0172.

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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused

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23

Rees, David. Haemoglobinopathies. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199642489.003.0172_update_001.

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Inherited abnormalities of the globin genes are the commonest single-gene disorders in the world and fall into two main groups: thalassaemias and sickle cell disease. Thalassaemias are due to quantitative defects in globin chain synthesis which cause variable anaemia and ineffective erythropoiesis. Thalassaemia was initially thought to be a disease of the bones due to uncontrolled bone marrow expansion causing bony distortion, although this is now unusual with appropriate blood transfusions. Osteopenia, often severe, is a feature of most patients with thalassaemia major and intermedia, caused

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24

Kriemler, Susi. Exercise, physical activity, and cystic fibrosis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199232482.003.0033.

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Cystic fibrosis (CF) is the most common genetic autosomal recessive disease of the Caucasian race, generally leading to death in early adulthood.1 The frequency of the gene carrier (heterozygote) is 1:20–25 in Caucasian populations, 1:2000 in African-Americans, and practically non-existent in Asian populations. The disease occurs in about 1 in every 2500 life births of the white population. Mean survival has risen from 8.4 years in 1969 to 32 years in 2000 due to improvements in treatment. The genetic defect causes a pathological electrolyte transport through the cell membranes by a defective

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25

Walsh, Bruce, and Michael Lynch. Using Molecular Data to Detect Selection: Signatures from Recent Single Events. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0009.

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Different types and phases of a selective sweep (hard, soft, partial, polygenic) generate different patterns of departures from neutrality, and hence require different tests. It is thus not surprising that a large number of tests have been proposed that use sequence information to detect ongoing, or very-recently completed, episodes of selection. This chapter critically reviews over 50 such tests, which use information on allele-frequency change, linkage disequilibrium patterns, spatial allele-frequency patterns, site-frequency spectrum data, allele-frequency spectrum data, and haplotype struc

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26

Naicker, Saraladevi, and Graham Paget. HIV and renal disease. Edited by Vivekanand Jha. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0187_update_001.

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The human immunodeficiency virus (HIV) infection epidemic has particularly affected the poorest regions of the world. HIV can directly or indirectly affect different aspects of renal function, and results in a variable expression of kidney disease.Acute kidney injury (AKI) occurs in approximately 20% of hospitalized patients. The prevalence of chronic kidney disease (CKD) amongst HIV-infected patients is reported at 3.5–38% in different regions of the world. The complex interplay between the pheno- and/or genotypic variants of the virus, the genetic make-up of the host, and environmental facto

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27

Abate, Michelle Ann, and Gwen Athene Tarbox, eds. Graphic Novels for Children and Young Adults. University Press of Mississippi, 2017. http://dx.doi.org/10.14325/mississippi/9781496811677.001.0001.

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One of the most significant transformations in literature for children and young adults during the last twenty years has been the resurgence of comics. Educators and librarians extol the benefits of comics reading, and increasingly, children's and young adult comics and comics hybrids have won major prizes, including the Printz Award and the National Book Award. Despite the popularity and influence of children's and young adult graphic novels, the genre has not received adequate scholarly attention. This book offers a critical examination of children's and YA comics. The anthology is divided i

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28

Vaheri, Antti, James N. Mills, Christina F. Spiropoulou, and Brian Hjelle. Hantaviruses. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198570028.003.0035.

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Hantaviruses (genus Hantavirus, family Bunyaviridae) are rodent- and insectivore-borne zoonotic viruses. Several hantaviruses are human pathogens, some with 10-35% mortality, and cause two diseases: hemorrhagic fever with renal syndrome (HFRS) in Eurasia, and hantavirus cardiopulmonary syndrome (HCPS) in the Americas. Hantaviruses are enveloped and have a three-segmented, single-stranded, negative-sense RNA genome. The L gene encodes an RNA-dependent RNA polymerase, the M gene encodes two glycoproteins (Gn and Gc), and the S gene encodes a nucleocapsid protein. In addition, the S genes of some

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29

Green, Barbara. Genre Criticism and the Prophets. Edited by Carolyn J. Sharp. Oxford University Press, 2016. http://dx.doi.org/10.1093/oxfordhb/9780199859559.013.15.

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This chapter offers a current explanation of the term “genre,” to distinguish it from form, and then proposes twenty-five genres that are found typically and frequently in the Latter Prophets. For each genre, a definition is offered, and a biblical text is instanced, with the shape, function, and effect of the genre suggested. The genres include the following: allegory; argumenta minori ad maius; call/commission; day of the Lord saying; dialogue; dirge; discourse ascribed; disputation; doxology/hymn; exhortation/admonition; lament; metaphor; metonymy; parable; parodic speech; personification;

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30

Reuter, Martin, and Christian Montag. The Genetic Basis of Positive Emotionality. Edited by Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.015.

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The chapter addresses the molecular genetic basis of the personality trait positive emotionality (PE). Beginning with historical aspects of heritability estimation and personality assessment, the main portion of this chapter discusses the molecular genetics basis of PE, which is investigated far less frequently than that of negative emotionality (NE). The studies reviewed focus on individual differences in PE in healthy subjects and include only those studies that assess PE by broadly accepted personality inventories. The review is concentrated on dopaminergic and serotonergic genes because th

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31

van Geel, Björn M., Marc Engelen, and Stephan Kemp. X-linked Adrenoleukodystrophy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0061.

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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several

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32

Elliott, Perry, Kristina H. Haugaa, Pio Caso, and Maja Cikes. Restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198726012.003.0044.

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Restrictive cardiomyopathy is a heart muscle disorder characterized by increased myocardial stiffness that results in an abnormally steep rise in intraventricular pressure with small increases in volume in the presence of normal or decreased diastolic left ventricular volumes and normal ventricular wall thickness. The disease may be caused by mutations in a number of genes or myocardial infiltration. Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac muscle disease associated with sudden cardiac death, ventricular arrhythmias, and cardiac failure. It is most frequently cau

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33

Jockers, Matthew L. Style. University of Illinois Press, 2017. http://dx.doi.org/10.5406/illinois/9780252037528.003.0006.

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This chapter shows how stylistic signals can be derived from high-frequency features and how the usage, or nonusage, of those features was susceptible to influences that are external to the so-called “authorial style,” external influences such as genre, time, and gender. These aspects of style were explored using a controlled corpus of 106 British novels where genre was a key point of analysis. The chapter first provides an overview of statistical or quantitative authorship attribution before discussing the author's project, in which he analyzed the degree to which novelistic genres express a

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34

Renton, Alan E., and Alison M. Goate. Genetics of Dementia. 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/9780190681425.003.0051.

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The genetic architecture of dementia is polygenic and complex, with risk alleles spanning frequency–effect size space. Despite significant progress, most genes influencing these disorders await discovery. Known risk loci implicate perturbed pathways that coalesce around recurring mechanistic themes, notably the autophagosome-lysosome system, the cytoskeleton, endocytosis, innate immunity, lipid metabolism, mitochondria, and the ubiquitin-proteasome system. Phenotypic and pathophysiological pleiotropy suggests some conditions form continuous clinicopathogenetic disease spectra blurring classica

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35

Barañano, Kristin W. Angelman Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0055.

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Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the epigenetically imprinted gene UBE3A. It is characterized by severe developmental delay, an ataxic gait disorder, an apparent happy demeanor with frequent smiling or laughing, and severe expressive language impairments. Understanding the neurobiology of AS has focused on understanding how UBE3A is regulated by neuronal activity, as well as the targets of its ubiquitin E3 ligase activity. This has led to a model of the role of UBE3A in the regulation of experience-dependent sculpting of synaptic c

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36

Connor, Thomas, and Patrick H. Maxwell. Von Hippel–Lindau disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0332.

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Von Hippel–Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by germline mutations in the VHL tumour suppressor gene. The most frequent manifestations of VHL disease are retinal and central nervous system haemangioblastomas, clear cell renal cell carcinomas, and phaeochromocytomas. Genetic testing and active screening for clinical manifestations is now started in childhood and has greatly improved the prognosis for patients with VHL disease. The VHL protein plays a critical role in regulating the cellular response to changes in oxygen tension. Loss of VHL function

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37

Dawson, Susan. Other bacterial diseasesStaphylococcal zoonoses. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198570028.003.0026.

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Staphylococcal species are common commensals of the skin and mucous membranes of humans and animals but only in very recent years has zoonotic infections been recognised. They can also be associated with infection and disease, especially coagulase positive organisms. Staphylococcus aureus is relatively frequently carried by humans in the nasal passages and is a cause of infections in people including bacteraemias in hospitalised patients. More recently some strains of Staphylococcus aureus have acquired a resistance gene (mecA) which renders them resistant to meticillin (meticillin-resistant S

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38

Gibson, K. Michael, Cornelis Jakobs, and Philip L. Pearl. Succinic Semialdehyde Dehydrogenase Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0029.

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Succinic semialdehyde dehydrogenase (SSADH) deficiency presents with intellectual disability, disproportionate deficit in expressive language, hypotonia, ataxia, and seizures.1,2 (1 Pearl et al 2011; 2 Vogel et al 2012). A diagnosis of autism spectrum disorder frequently occurs, correlated with neuropsychiatric morbidity (ADHD, OCD, PDD). 1,3 The biochemical hallmark, γ‎-hydroxybutyric acid (GHB), is elevated in physiological fluids, as is γ‎-aminobutyrate (GABA) in cerebrospinal fluid (CSF).4,5 Both species are neuroactive. Clinical manifestations are universally present in early childhood, a

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39

Montironi, Rodolfo, Liang Cheng, Antonio Lopez-Beltran, Roberta Mazzucchelli, Matteo Santoni, and Marina Scarpelli. Prostate cancer. Edited by James W. F. Catto. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199659579.003.0060.

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The incidence of prostate cancer (PCa) has risen dramatically in the last years. This event may be partially explained by the employment of digital rectal examination (DRE), serum prostate-specific antigen (PSA), and transrectal ultrasonography. In developed countries, PCa is the most frequent non-skin malignancy in males. It is estimated that one in six males will be diagnosed with PCa during their lifetime, the risk of death due to metastatic PCa being 1 in 30. Multiple factors contribute to the development of PCa, as well as to its progression to an androgen-independent state: dietary facto

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40

Sebastio, Gianfranco, Manuel Schiff, and Hélène Ogier de Baulny. Lysinuric Protein Intolerance and Hartnup Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0025.

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Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progr

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41

Westfahl, Gary. Science Fiction Literature through History. Greenwood, 2021. http://dx.doi.org/10.5040/9798216985761.

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This book provides students and other interested readers with a comprehensive survey of science fiction history and numerous essays addressing major science fiction topics, authors, works, and subgenres written by a distinguished scholar. This encyclopedia deals with written science fiction in all of its forms, not only novels and short stories but also mediums often ignored in other reference books, such as plays, poems, comic books, and graphic novels. Some science fiction films, television programs, and video games are also mentioned, particularly when they are relevant to written texts. It

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42

Westfahl, Gary. Science Fiction Literature through History. Greenwood, 2021. http://dx.doi.org/10.5040/9798216985754.

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This book provides students and other interested readers with a comprehensive survey of science fiction history and numerous essays addressing major science fiction topics, authors, works, and subgenres written by a distinguished scholar. This encyclopedia deals with written science fiction in all of its forms, not only novels and short stories but also mediums often ignored in other reference books, such as plays, poems, comic books, and graphic novels. Some science fiction films, television programs, and video games are also mentioned, particularly when they are relevant to written texts. It

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43

Daudon, Michel, and Paul Jungers. Cystine stones. Edited by Mark E. De Broe. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0203_update_001.

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Cystinuria, an autosomal recessive disease (estimated at 1:7000 births worldwide), results from the defective reabsorption of cystine and dibasic amino acids (also ornithine, arginine, lysine, COAL) by epithelial cells of renal proximal tubules, leading to an abnormally high urinary excretion of these amino acids. Due to the poor solubility of cystine at the usual urine pH, formation of cystine crystals and stones ensues. Incidence of homozygotes is estimated at 1 in 7000 births worldwide, but is lower in European countries and much higher in populations with frequent consanguinity. Cystine st

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44

Taylor, Roger E., Barry L. Pizer, Nancy Tarbell, Alba A. Brandes, and Stephen Lowis. Embryonal and pineal tumours. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199651870.003.0009.

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Embryonal tumours account for 20% of paediatric central nervous system (CNS) tumours. Medulloblastoma (MB), the most frequent, arises in the cerebellum. Clinical strategies have been based on series of multi-institutional trials since the 1970s. Recent understanding of the influence of molecular/biological factors has led to subdivision into four distinct subtypes with differing clinical and prognostic profiles, on which stratification is now based. Management of MB in adults is largely based on principles of managing children, modified according to differing clinical and toxicity profiles. Mo

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45

Kleinman, Ronald E., and Frank R. Greer, eds. Pediatric Nutrition (Sponsored Member Benefit). 7th ed. American Academy of Pediatrics, 2013. http://dx.doi.org/10.1542/9781581108606.

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The new 7th edition provides the latest information about nutrient metabolism and nutrition to support the normal development and health of infants and children who are well, those born with congenital anomalies or disorders of metabolism, and those with acute and chronic illnesses. Contents include: - The latest evidence-based guidelines on feeding healthy infants and children - Current policies and practice recommendations from the AAP Committee on Nutrition - Several new chapters and appendices have been added, including chapters on school and daycare nutrition; gene and nutrient interactio

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46

Megna-Wallace, Joanne. Understanding I Know Why the Caged Bird Sings. Greenwood, 1998. http://dx.doi.org/10.5040/9798216029502.

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Maya Angelou's autobiographyI Know Why the Caged Bird Singswas nominated for a National Book Award, yet in 1995 it topped the list of books most frequently challenged in schools and libraries. This interdisciplinary collection of documents and commentary explores the historical and social context, as well as the contemporary issues and controversies raised by Angelou's autobiography. A rich resource for teachers and students, it will help to enhance the reader's understanding of the historical and social forces that shaped Maya Angelou's experience—race relations in the pre-civil rights South,

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Konstan, David. Grief and the Self. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190887872.003.0005.

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Grief for the dead may seem to exhibit the most selfless kind of attachment, since the dead can no longer give us anything in return, and yet in practice one often mourns for the loss of support and protection (as evidenced frequently in ritualized lamentations), and such grief may appear to be self-centered. The conventional genre of the consolation mobilized arguments to discourage excessive or prolonged mourning, even as writers recognized that the immediate sense of loss was natural, shared even by animals. What is more, if a beloved friend is another self, then his or her death is a kind

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48

Withers, Jeremy. Futuristic Cars and Space Bicycles. Liverpool University Press, 2020. http://dx.doi.org/10.3828/liverpool/9781789621754.001.0001.

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Futuristic Cars and Space Bicycles is the first book to examine the history of representations of the automobile and of marginalized transportation technologies such as the bicycle throughout the history of American science fiction. With chapters ranging from ones on the early science fiction of the pulp magazine era of the 1920s and 1930s, on up to chapters on the postcyberpunk of the 1990s and more recent science fiction media of the 2000s such as web television, zines, and comics, this book argues that science fiction by and large perceives the car as anything but a marvelous invention of m

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Yi, Tau-Mu. Measuring the effect of mutations in two genes involved in DNA repair, xth and recA, and the effect of two DNA-damaging treatments, H2O2 challenge and UV irradiation, on the frequency of illegitimate plasmid rearrangements in E. coli. 1986.

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50

Jendza, Craig. Paracomedy. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190090937.001.0001.

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Paracomedy: Appropriations of Comedy in Greek Tragedy is the first book that examines how ancient Greek tragedy engages with the genre of comedy. While scholars frequently study paratragedy (how Greek comedians satirize tragedy), this book investigates the previously overlooked practice of paracomedy: how Greek tragedians regularly appropriate elements from comedy such as costumes, scenes, language, characters, or plots. Drawing upon a wide variety of complete and fragmentary tragedies and comedies (Aeschylus, Sophocles, Euripides, Aristophanes, Rhinthon), this monograph demonstrates that para

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Books on the topic 'Gene frequency'

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