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Books on the topic 'Genetic and Phenotypic Correlations'

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Published: 4 June 2021
Last updated: 3 February 2022

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1

Phenotypic variation: Exploration and functional genomics. Oxford: Oxford University Press, 2010.

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2

Lee, Mark Joon-Sung. Phenotypic and genetic characterization of borderline oxacillin-resistant Staphylococcus aureus. Ottawa: National Library of Canada, 1999.

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3

Symposium on Phenotypic Variation in Populations: Relevance to Risk Assessment (1986 Brookhaven National Laboratory). Phenotypic variation in populations: Relevance to risk assessment. New York: Plenum Press, 1988.

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4

Podmore, S. M. Phenotypic and molecular genetic studies on the production of the calcium-dependent antibiotic of streptomyces coelicolor A3(2). Manchester: UMIST, 1995.

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5

David, Epel, ed. Ecological developmental biology: Integrating epigenetics, medicine, and evolution. Sunderland, Mass., U.S.A: Sinauer, 2009.

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6

Cazeneuve, Cécile, and Alexandra Durr. Genetic and Molecular Studies. Oxford University Press, 2014. http://dx.doi.org/10.1093/med/9780199929146.003.0006.

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Huntington’s disease (HD) is a rare inherited neurologic disorder due to a single mutational mechanism in a large gene (HTT). The mutation is an abnormal CAG repeat expansion, which is translated to a polyglutamine stretch in the huntingtin protein. The growing field of repeat expansion disorders benefits greatly from the lessons learned from the role of the CAG repeat expansion in HD and its resulting phenotype–genotype correlations. The molecular diagnosis can be difficult, and there are some pitfalls for accurate sizing of the CAG repeat, especially in juvenile HD and for intermediate alleles. Correlation between CAG length and age of onset accounts for up to 72% of the variance in different populations, but the search for genes modifying age of onset or progression of HD is still ongoing.
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7

Aaronson, Stuart A. Genetic and Phenotypic Markers of Tumors. Springer, 2012.

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8

Aaronson, Stuart A., and Luigi Frati. Genetic and Phenotypic Markers of Tumors. Plenum Publishing Corporation, 1985.

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9

Laboratory), Symposium on Phenotypic Variation in Populations: Relevance to Risk Assessment (1986 Brookhaven National. Phenotypic variation in populations. Plenum, 1988.

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10

Carlson, Aldrich John, ed. Phenotypic responses and individuality in aquatic ectotherms. Ashford, County Wicklow: JAPAGA, 1989.

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11

Crosbie, Jennifer. Genetic risk and phenotypic variation in attention deficit hyperactivity disorder. 2004.

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12

Syrris, Petros, and Alexandros Protonotarios. Arrhythmogenic right ventricular cardiomyopathy: genetics. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0359.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of the heart muscle which is typically inherited in an autosomal dominant manner. It is believed to be familial in over 50% of cases. A recessive mode of inheritance has also been reported in syndromic cases with cardiocutaneous features. The classic form of the disorder is considered to be ‘a disease of the desmosome’ as pathogenic variants have been identified in five genes encoding key desmosomal proteins: plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2. Mutations in these genes account for 30–50% of ARVC cases. A further eight non-desmosomal genes have also been implicated in the pathogenesis of the disorder but only account for rare cases. Studies of patients with ARVC-associated gene mutations have revealed marked genetic heterogeneity and very limited genotype–phenotype correlation. Disease expression often varies significantly amongst individuals carrying the same mutation. It has been proposed that the presence of more than one sequence variant is required to determine overt clinical disease and patients with multiple variants have a more severe phenotype compared to single variant carriers. Identification of a potentially pathogenic variant comprises a major criterion in the diagnosis of ARVC but informative integration of genetic testing into clinical practice remains challenging. Gene testing should be used to identify asymptomatic family members at risk and only aids diagnosis in cases of high suspicion for ARVC, along with other evident features of the disease already present. However, genetic findings should be used with caution in clinical practice and their interpretation must be performed in expert centres.
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13

Kunz, Camilla. Genetic Variation and Phenotypic Plasticity in Body Traits of Nestling Blue Tits. Uppsala Universitet, 1999.

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14

D, Varfolomeyev S., and Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Hauppauge, NY: Nova Science Publishers, 2009.

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15

D, Varfolomeyev S., and Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Hauppauge, NY: Nova Science Publishers, 2009.

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16

Zehnbauer, Barbara, and W. Andrew Faucett. Regulation of Laboratory Genetic Testing. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190604929.003.0002.

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Laboratory regulations provide rules to establish consistency and to evaluate performance. They also set out the qualifications and experience needed for laboratory staff to fulfill regulatory requirements and meet professional standards. Clinical genetic counselors play a significant role in determining which tests to offer patients, which laboratories to consider for testing, and which phenotypic information to provide to the clinical laboratory to improve the interpretation of test results. This chapter discusses laboratory regulations pertinent to the type of genetic testing offered and specimens received in the laboratory. The goal is to help the laboratory genetic counselor understand the regulatory oversight of genetic testing and the quality management of clinical laboratory operations.
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17

Woodhead, Avril. Phenotypic Variation in Populations:Relevance to Risk Assessment (Basic Life Sciences). Springer, 1988.

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18

Phenotypic and Genotypic Diagnosis of Malignancies: An Immunohistochemical and Molecular Approach. Wiley-VCH, 2008.

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19

Tuffaha, Muin S. A. Phenotypic and Genotypic Diagnosis of Malignancies: An Immunohistochemical and Molecular Approach. Wiley & Sons, Incorporated, John, 2008.

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20

Mangold, Robert. Genetic variation and phenotypic stability among three elevational sources of coastal Douglas-fir from southwest Oregon. 1987.

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21

Distel, Marijn A., and Marleen H. M. de Moor. Genetic Influences on Borderline Personality Disorder. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199997510.003.0007.

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Borderline personality disorder (BPD) tends to “run in families.” Twin and twin family studies show that BPD is moderately heritable, with some evidence for nonadditive gene action. BPD co-occurs with Axis I and other Axis II disorders, as well as with a certain profile of normal personality traits. Multivariate twin (family) studies have shown that these phenotypic associations are partly due to genetic associations, and this is observed most strongly for BPD and neuroticism. Candidate gene-finding studies for BPD suggest the possible role of genes in the serotonergic and dopaminergic system, but this needs to be confirmed in larger genome-wide studies. Future studies will complement the knowledge described in this chapter to enable us to move toward a comprehensive model of the development of BPD in which biological and environmental influences on BPD are integrated.
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22

Iyamabo, Odianosen E. Effects of selection, recombination and plot type on phenotypic and quantitative trait locus analyses in barley (Hordeum vulgare L.). 1993.

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23

McAlister, Justin S., and Benjamin G. Miner, eds. Phenotypic Plasticity of Feeding Structures in Marine Invertebrate Larvae. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198786962.003.0008.

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Nearly three decades ago, biologists discovered that planktotrophic larvae of sea urchins can alter the size of their ciliated feeding structures in response to the concentration of food (i.e., unicellular algae). In the years since, this response has become one of the best-studied examples of phenotypic plasticity in marine organisms. Researchers have found that this form of plasticity occurs widely among different types of feeding larvae in several phyla, and involves energetic trade-offs with a suite of correlated life history characters. Furthermore, investigators have recently started to unravel the genetic and molecular mechanisms underlying this plasticity. We review the literature on feeding-structure plasticity in marine invertebrate larvae. We highlight the diversity of species and variety of experimental designs and statistical methodologies, summarize research findings to draw more general conclusions, and target promising directions for future research.
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24

Temel, Fatih. Persistence and age-age genetic correlations of stem defects in Douglas-fir (Pseudotsuga menziesii var. menziesii (Mirb.) Franco). 1997.

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25

Temel, Fatih. Persistence and age-age genetic correlations of stem defects in Douglas-fir (Pseudotsuga menziesii var. menziesii (Mirb.) Franco). 1997.

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26

Minelli, Alessandro. Evolvability and Its Evolvability. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780199377176.003.0007.

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No universally accepted notion of evolvability is available, focus being alternatively put onto either genetic or phenotypic change. The heuristic power of this concept is best found when considering the intricacies of the genotype→phenotype map, which is not necessarily predictable, expression of variation depending on the structure of gene networks and especially on the modularity and robustness of developmental systems. We can hardly ignore evolvability whenever studying the role of cryptic variation in evolution, the often pervious boundary between phenotypic plasticity and the expression of a genetic polymorphism, the major phenotypic leaps that the mechanisms of development can produce based on point mutations, or the morphological stasis that reveals how robust a developmental process can be in front of genetic change. Evolvability is subject itself to evolution, but it is still uncertain to what extent there is positive selection for enhanced evolvability, or for evolvability biased in a specific direction.
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27

J, Epstein Charles, and National Down Syndrome Society (U.S.), eds. The Phenotypic mapping of down syndrome and other aneuploid conditions: Proceedings of a National Down Syndome Society conference held in New York, January 14 and 15, 1993. New York: Wiley-Liss, 1993.

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28

National Down Syndrome Society (U. S.). The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions: Proceedings of the National Down Syndome Society Conference Held in New York (Progress ... Clinical and Biological Research, Vol 384). Wiley-Liss, 1993.

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29

Prescott, Tony J., and Leah Krubitzer. Evo-devo. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780199674923.003.0008.

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This chapter explores how principles underlying natural evo-devo (evolution and development) continue to inspire the design of artificial systems from models of cell growth through to simulated three-dimensional evolved creatures. Research on biological evolvability shows that phenotypic outcomes depend on multiple interactions across different organizational levels—the adult organism is the outcome of a series of genetic cascades modulated in time and space by the wider embryological, bodily, and environmental context. This chapter reviews evo-devo principles discovered in biology and explores their potential for improving the evolvability of artificial systems. Biological topics covered include adaptive, selective, and generative mechanisms, and the role of epigenetic processes in creating phenotypic diversity. Modeling approaches include L-systems, Boolean networks, reaction-diffusion processes, genetic algorithms, and artificial embryogeny. A particular focus is on the evolution and development of the mammalian brain and the possibility of designing, using synthetic evo-devo approaches, brain-like control architectures for biomimetic robots.
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30

McGuire, Michael, and Alfonso Troisi. Personality Conditions. Oxford University Press, 2015. http://dx.doi.org/10.1093/med:psych/9780195116731.003.0009.

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The chapter begins with discussions of adaptive genetic variation and phenotypic plasticity, life history strategies, short-term strategies, prevailing models of personality disorders, and traits. These topics introduce new points and briefly review key points discussed earlier in order to set the context for the second part of the chapter, where personality disorders are interpreted in an evolutionary context.
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31

Arbustini, Eloisa, Valentina Favalli, Alessandro Di Toro, Alessandra Serio, and Jagat Narula. Classification of cardiomyopathies. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0348.

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For over 50 years, the definition and classification of cardiomyopathies have remained anchored in the concept of ventricular dysfunction and myocardial structural remodelling due to unknown cause. The concept of idiopathic was first challenged in 2006, when the American Heart Association classification subordinated the phenotype to the aetiology. Cardiomyopathies were classified as genetic, acquired, and mixed. In 2008, the European Society of Cardiology proposed a phenotype-driven classification that separated familial (genetic) from non-familial (non-genetic) forms of cardiomyopathy. Both classifications led the way to a precise phenotypic and aetiological description of the disease and moved away from the previously held notion of idiopathic disease. In 2013, the World Heart Federation introduced a descriptive and flexible nosology—the MOGE(S) classification—describing the morphofunctional (M) phenotype of cardiomyopathy, the involvement of additional organs (O), the familial/genetic (G) origin, and the precise description of the (a)etiology including genetic mutation, if applicable (E); reporting of functional status such as American College of Cardiology/American Heart Association stage and New York Heart Association classification (S) was left optional. MOGE(S) is a bridge between the past and the future. It allows description of comprehensive phenotypic data, all genetic and non-genetic causes of cardiomyopathy, and incorporates description of familial clustering in a genetic disease. MOGE(S) is the instrument of precision diagnosis for cardiomyopathies. The addition of the early and unaffected phenotypes to the (M) descriptor outlines the clinical profile of an early affected family member; the examples include non-dilated hypokinetic cardiomyopathy in dilated cardiomyopathy and septal thickness (13–14 mm) in hypertrophic cardiomyopathy classes.
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32

Hunt, John, James Rapkin, and Clarissa House. The genetics of reproductive behavior. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198797500.003.0002.

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Genes play a fundamental role in the regulation and evolution of most phenotypic traits, including behavior. This chapter focuses on the genetics of reproductive behavior in insects.More specifically, the distribution of genetic effects for reproductive behavior in insects (many genes of small effect or few genes of large effect) is examined, as well as how these genes interact with each other, with genes for other important traits, and with the abiotic and social environments. The chapter concludes by discussing the wider implications of this complex genetic architecture to the evolution of reproductive behaviors in insects and outline some key directions for future research on this topic.
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33

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 exact function has still not been fully unravelled. Mutations were found to be scattered throughout the gene with many of them being private to single families. Correlations have been drawn for the type of mutation rather than for the site of the individual mutation. Virtually all patients carrying two truncating mutations display a severe phenotype with peri- or neonatal demise while surviving patients bear at least one hypomorphic missense mutation. However, about 20–30% of all sibships exhibit major intrafamilial phenotypic variability and it becomes increasingly obvious that ARPKD is clinically and genetically much more heterogeneous and complex than previously thought.
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34

McKinlay Gardner, R. J., and David J. Amor. Autosomal Ring Chromosomes. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0011.

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Ring chromosomes are uncommon. The typical physical phenotype comprises major dysmorphogenesis and intellectual deficiency, and reproduction is not usually a relevant issue. A ring chromosome is formed due to an end-to-end fusion of chromosome tips. Almost always, the end result is an imbalance and significant phenotypic abnormality. Rarely, however, this is not the case. In this chapter, genetic risks for ring carriers for whom procreation is a realistic likelihood are considered. This chapter distinguishes between those with a normal 46 chromosome count, one being a ring, and those with a 47 chromosome count, the additional chromosome being a (necessarily small) ring.
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35

Doherty, Michael, Johannes Bijlsma, Nigel Arden, David J. Hunter, and Nicola Dalbeth. Introduction: what is osteoarthritis? Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0001.

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This brief introductory chapter summarizes some of the key clinical and structural features of osteoarthritis (OA) and highlights some general observations and concepts concerning the nature of OA. General observations include the preservation of OA throughout human evolution; the occurrence of OA in many other animals; the dynamic, metabolically active nature of OA pathophysiology; the fact that most OA never associates with symptoms or functional impairment; and the good outcome in many cases of symptomatic OA. Such observations support the concept of OA as the inherent repair process of synovial joints, which can be triggered by a range of diverse insults and in which all the joint tissues are involved. Aetiologically, OA is a common complex disorder with recognized genetic, constitutional, and environmental risk factors, and these may combine in multiple ways to cause marked variation in phenotypic presentation and in some instances ‘joint failure’ with associated symptoms and disability. Within the spectrum of OA are some discrete subsets, the best defined being nodal generalized OA. However, in many people OA does not fit neatly into one type and its phenotypic characteristics may change as it evolves. Two striking associations of OA are with ageing and with crystal deposition, especially calcium crystals but also urate crystals, and there are a number of possible mechanisms to explain these.
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36

McKinlay Gardner, R. J., and David J. Amor. Autosomal Reciprocal Translocations. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0005.

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This chapter reviews in detail the question of carriers of autosomal reciprocal translocations and the genetic risks implied for potential offspring of theirs. Examples are offered of the various possibilities due to malsegregation in gametes of theirs: adjacent-1, adjacent-2, 3:1, and the (very rare) 4:0 malsegregation. The chapter provides advice on determining the most likely modes of segregation, according to the different forms of translocation (length of centric segment, length of translocated segment, sizes of derivative chromosomes). The chapter discusses the practical problem of the apparently balanced translocation but which is associated with phenotypic abnormality. Associations with infertility are noted.
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37

Sayer, John A. Autosomal dominant tubule-interstitial kidney disease, including medullary cystic disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0318_update_001.

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The term medullary cystic kidney disease (MCKD) describes a group of autosomal dominantly inherited renal disorders. The term MCKD is used interchangeably with other terms, most commonly autosomal dominant interstitial kidney disease, and now may be distinguished using a molecular genetic diagnosis into at least three types. These include MCKD type 1, MCKD type 2 (also known now as uromodulin-associated kidney disease), and REN-associated kidney disease. Each of these types have phenotypic overlap but with a few distinguishing features. MCKD typically leads to end-stage renal failure between 30 and 70 years of age. Extrarenal features may include gout and childhood anaemia.
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38

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 classical diagnoses. Future large-scale genome sequencing of global populations will significantly elucidate etiopathogenesis and is likely to reframe nosology. Furthermore integrative prospective cohort studies have the potential to revolutionize our understanding of dementia.
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39

Tully, Erin C., and William Iacono. An Integrative Common Liabilities Model for the Comorbidity of Substance Use Disorders with Externalizing and Internalizing Disorders. Edited by Kenneth J. Sher. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199381708.013.20.

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This chapter presents an integrative research-derived model to explain comorbidity among substance use disorders (SUDs), externalizing disorders, and internalizing disorders. This hierarchical model is based on phenotypic covariance among the disorders and latent common genetic liability. At the highest level of the hierarchy, general genetically influenced biological dispositions to negative emotionality and behavioral disinhibition each give rise to spectra of related personality traits, cognitive processes, behavioral tendencies, and psychopathology that account for the pattern of co-occurrence among mental disorders. At the lowest level of the hierarchy, disorder-specific genetic and environmental effects explain the presence of some and not other disorders associated with a given general liability. Interplay between the general liabilities and both other genes and environmental factors throughout development affect the likelihood of developing specific mental disorders.
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40

Geri, Guillaume, and Jean-Paul Mira. Host–pathogen interactions in the critically ill. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0306.

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Infection by a pathogenic micro-organism triggers a coordinated activation of both innate and adaptive immune responses. The innate immune response quickly triggers an antimicrobial response that will initiate development of a pathogen-specific, long-lasting adaptive immune response. Accurate recognition of microbial-associated molecular patterns by pattern-recognition receptors (PRRs) is the cornerstone of this immediate response. Most studied PRRs are Toll-like receptors (TLRs) and their kinase signalling cascades that activate nuclear transcription factors, and induce gene expression and cytokine production. Deficiencies or genetic variability in these different signalling pathways may lead to recurrent pyogenic infections and severe invasive diseases. After initial contact between the host and pathogen, numerous factors mediate the inflammatory response, as pro-inflammatory cytokines and chemokines. Apart from host genetic variability, pathogen diversity also influences the phenotypic features of various infectious diseases. Genomic analysis may assist in the development of targeted therapies or new therapeutic strategies based on both patient and microorganism genotype.
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41

Zhou, Juan, and William W. Seeley. Brain Circuits. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190233563.003.0007.

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Each neurodegenerative disease is defined by selectively vulnerable neurons, regions, networks, and functions, as well as genetic risk factors. In the past decade, new network-sensitive neuroimaging methods have made it possible to test the notion of network-based degeneration in living humans. This chapter focuses on two common causes of dementia, Alzheimer’s disease (AD) and frontotemporal dementia (FTD), but uses these diseases to illustrate class-wide neurodegeneration principles whenever possible. It first introduces two key concepts of neurodegenerative disease selective vulnerability: onset and progression. In parallel, it addresses two distinct but related observations about neurodegenerative disease: clinico-anatomical convergence and phenotypic heterogeneity. It then examines disease onset and models of progression in more detail, based on available neuroimaging evidence. Finally, it touches on the most important frontiers in the field of network-based neurodegeneration.
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42

Maruska, Karen P., and Russell D. Fernald. Social Regulation of Gene Expression in the African Cichlid Fish. Edited by Turhan Canli. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199753888.013.012.

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How does an animal’s social environment shape its behavior and physiology, and what underlying molecular and genetic mechanisms lead to phenotypic changes? To address this question, the authors used a model system that exhibits socially regulated plastic phenotypes, behavioral complexity, molecular level access, and genomic resources. The African cichlid fishAstatotilapia burtoni, in which male status and reproductive physiology are under social control, has become an important model for studying the mechanisms that regulate complex social behaviors. This chapter reviews what is known about how information from the social environment produces changes in behavior, physiology, and gene expression profiles in the brain and reproductive axis ofA. burtoni. Understanding the mechanisms responsible for translating perception of social cues into molecular change in a model vertebrate is important for identifying selective pressures and evolutionary mechanisms that shape the brain and ultimately result in diverse and complex social behaviors.
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43

Derefinko, Karen J., and William E. Pelham. ADHD and Substance Use. Edited by Kenneth J. Sher. Oxford University Press, 2014. http://dx.doi.org/10.1093/oxfordhb/9780199381708.013.18.

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This chapter discusses the current understanding of relations between attention deficit hyperactivity disorder (ADHD) and substance use. Children with ADHD are at risk for problems in substance use; evidence suggests that the relations between ADHD and substance use may differ across age groups, gender, and comorbid conditions. Important issues regarding appropriate assessment and developmental trajectories may play a role in how these differences are understood. In comorbid substance use and ADHD, significant overlap in genetic, neurobiological, and trait factors suggests that ADHD and substance use share a common etiology, although factors influencing the phenotypic expression of these factors continue to play an important role in how comorbidity is expressed. Finally, treatment of these comorbid conditions is discussed, both in terms of the issues surrounding medication for ADHD in the context of substance abuse and potential nonmedication treatments that address both substance use and ADHD symptoms through cognitive behavioral strategies.
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44

Willcutt, Erik G. ADHD and reading disorder. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0029.

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This chapter provides an overview of current knowledge regarding the frequency, implications, and aetiology of comorbidity between ADHD and reading disorder (RD), a common childhood disorder that is defined by significant underachievement in reading. Results from community studies indicate that 20–50% of individuals with ADHD also meet criteria for RD, and the presence of comorbid RD is associated with increased functional impairment and less positive long-term outcomes. Family and twin studies indicate that RD and ADHD are both significantly familial and heritable, and multivariate analyses indicate that nearly all of the phenotypic covariance between RD and ADHD is due to shared genetic influences that are associated with slower and more variable cognitive processing speed. Key future directions include studies that incorporate a broader range of measures of reading and more sophisticated neuropsychological and neuroimaging phenotypes, along with studies of the treatment implications of comorbidity between ADHD and RD.
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45

Borman, Andrew M. Fungal taxonomy and nomenclature. Edited by Christopher C. Kibbler, Richard Barton, Neil A. R. Gow, Susan Howell, Donna M. MacCallum, and Rohini J. Manuel. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198755388.003.0002.

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This chapter summarizes historical and modern approaches to fungal taxonomy, the current taxonomic standing of medically important fungi, and the implications for fungal nomenclature following the recent Amsterdam Declaration on Fungal Nomenclature, which prohibits dual nomenclature. Fungi comprise an entire kingdom, containing an estimated 1–10 million species. Traditionally, fungal identification was based on examination of morphological and phenotypic features, including the type of sexual spores they form, and method of formation, and structural features of their asexual spores. Thus, many fungi have been described and named independently several times based on either their sexual or asexual stages, resulting in a single genetic entity having multiple names. Recent molecular approaches to fungal identification have led to profound changes in fungal nomenclature and taxonomy. Certain phyla have now been disbanded, cryptic species have been identified via molecular approaches, and long-recognized species have been transferred to new genera based on genotypic comparisons.
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46

Williams, Elizabeth A., and Tyler J. Carrier, eds. An -omics Perspective on Marine Invertebrate Larvae. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198786962.003.0019.

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The diverse phenotypes exhibited by marine invertebrate larvae are the result of complex gene-environment interactions. Recently, technological advances in molecular biology have enabled large-scale -omics approaches, which can provide a global overview of the molecular mechanisms that shape the larval genotype-phenotype landscape. -omics approaches are facilitating our understanding of larval development and life history evolution, larval response to environmental stress, the larval microbiome, larval physiology and feeding, and larval behavior. These large-scale molecular approaches are even more effective when combined with large-scale environmental monitoring and phenotypic measurements. Current -omics approaches to studying larvae can be improved by the addition of functional genetic analyses and the reporting of natural variation in gene expression between individuals and populations. Systems-level approaches that combine multiple -omics techniques will allow us to explore in fine detail the interactions of environmental and genotypic influences on larval phenotype.
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47

Walsh, Bruce, and Michael Lynch. Short-term Changes in the Variance: 1. Changes in the Additive Variance. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198830870.003.0016.

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Selection changes the additive-genetic variance (and hence the response in the mean) by both changing allele frequencies and by generating correlations among alleles at different loci (linkage disequilibrium). Such selection-induced correlations can be generated even between unlinked loci, and (generally) are negative, such that alleles increasing trait values tend to become increasingly negative correlated under direction or stabilizing selection, and positively correlated under disruptive selection. Such changes in the additive-genetic variance from disequilibrium is called the Bulmer effects. For a large number of loci, the amount of change can be predicted from the Bulmer equation, the analog of the breeder's equation, but now for the change in the variance. Upon cessation of selection, any disequilibrium decays away, and the variances revert back to their additive-genic variances (the additive variance in the absence of disequilibrium). Assortative mating also generates such disequilibrium.
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48

Dixon, Bradley P., J. Christopher Kingswood, and John J. Bissler. Tuberous sclerosis complex renal disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0330.

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting almost all organs. It has wider phenotypic variation than often appreciated, with less than half showing the combination of characteristic facial angiofibromas, epilepsy, and mental retardation. Renal angiomyolipomata or cysts are found in 90% and renal failure was historically a common mode of adult death from the disease. Pulmonary lymphangioleiomyomatosis is restricted to females. Angiomyolipomata or cystic disease, or both, may cause renal failure. Angiomyolipomata may also haemorrhage, especially from larger lesions. Manifestations of brain involvement substantially complicate management of many patients with TSC. The causative genes TSC1 and TSC2 encode tuberin and hamartin which are involved in control of the mammalian target of rapamycin pathway. Inhibitors of that pathway, such as sirolimus and everolimus, are therefore logical approaches to therapy and have been shown to be effective in reducing angiomyolipomata volume. It remains to be seen whether they can protect renal function.
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49

Karon, Barry L., and Naveen L. Pereira. Heart Failure and Cardiomyopathies. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0046.

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Heart failure is a clinical syndrome characterized by the inability of the heart to maintain adequate cardiac output to meet the metabolic demands of the body while still maintaining normal or near-normal ventricular filling pressures. Heart failure may be present at rest, but often it is present only during exertion as a result of the dynamic nature of cardiac demands. For correct treatment of heart failure, the mechanism, underlying cause, and any reversible precipitating factors must be identified. Typical manifestations of heart failure are dyspnea and fatigue that limit activity tolerance and fluid retention leading to pulmonary or peripheral edema. The most recent proposed categorization divided the cardiomyopathies into primary and secondary cardiomyopathies, and the primary disorders are further subdivided as genetic, acquired, or mixed. Although this proposal takes into account our progressive understanding of this heterogeneous group of disorders, the previous phenotypic classification of dilated, hypertrophic, and restrictive diseases still provides utility in day-to-day understanding and management of these disorders.
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50

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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