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Books on the topic 'Protein variants'

Author: Grafiati

Published: 14 March 2023

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1

Estrada, Sergio. Cystatin A, a mammalian cysteine proteinase inhibitor: Mechanism of inhibition of target proteinases by recombinant cystatin A variants. Uppsala: Sveriges Lantbruksuniversitet, 1998.

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2

Privitera, Salvatore. Construction and functional characterization of a cDNA clone for the spliced variant of gbs-galactosidase and further evidence that it encodes the elastin/laminin binding protein, EBP. Ottawa: National Library of Canada = Bibliothèque nationale du Canada, 1999.

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3

Janssens, Veerle. Promoter Analysis and Characterization of Novel Splice Variants of the Human Phosphotyrosyl Phosphatase Activator Gene. Leuven Univ Pr, 2000.

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4

Heng, Liang. Characterization of the folding and stability of the Escherichia coli bacteriophage f1 gene V protein and its variants. 1992.

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5

Focosi, Daniele. SARS-CoV-2 Spike Protein Convergent Evolution: Impact of Virus Variants on Efficacy of COVID-19 Therapeutics and Vaccines. Springer International Publishing AG, 2021.

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6

Ng, Dominic S. Familial Apolipoprotein A-I Deficiency. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0036.

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Apolipoprotein (apo) A-I is the key structural protein of high-density lipoprotein (HDL) and is necessary for sustaining the circulating level of HDL. It has also been studied extensively for its role in mediating many of the antiatherosclerotic and antithrombotic properties of HDL. More than 50 naturally occurring mutations and variants have been described, and they usually result in marked HDL deficiency in a gene-dose dependent manner. However, the propensity to develop accelerated coronary heart disease (CHD) is highly heterogeneous. Mutations resulting in inability to synthesize apo A-I tend to be associated with early CHD, while mutations resulting in structurally altered apo A-I are generally not associated. Furthermore, a number of apo A-I variants, for example apo A-I Iowa or apo A-I Helsinki, have been linked to amyloidosis, resulting in potentially serious morbid complications.

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7

Chess, Andrew, and Schahram Akbarian. The Human Brain and its Epigenomes. 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/9780190681425.003.0003.

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Conventional psychopharmacology elicits an insufficient therapeutic response in more than one half of patients diagnosed with schizophrenia, bipolar disorder, depression, anxiety, or related disorders. This underscores the need to further explore the neurobiology and molecular pathology of mental disorders in order to develop novel treatment strategies of higher efficacy. One promising avenue of research is epigenetics.Deeper understanding of genome organization and function in normal and diseased human brain will require comprehensive charting of neuronal and glial epigenomes. This includes DNA cytosine and adenine methylation, hundred(s) of residue-specific post-translational histone modifications and histone variants, transcription factor occupancies, and chromosomal conformations and loopings. Epigenome mappings provide an important avenue to assign function to many risk-associated DNA variants and mutations that do not affect protein-coding sequences. Powerful novel single cell technologies offer the opportunity to understand genome function in context of the vastly complex cellular heterogeneity and neuroanatomical diversity of the human brain.

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8

Thompson, Miles. Characterization of variant forms of G protein-coupled receptors. 2003.

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9

Slack, Jonathan. Conclusion. Oxford University Press, 2014. http://dx.doi.org/10.1093/actrade/9780199676507.003.0007.

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There are many concepts of the gene. They range from defined sequences of DNA encoding proteins, to variant genes distinguishing individuals (markers), to unknown genes controlling quantitative traits, to hypothetical entities controlling behaviour as well as other complex characteristics. The science of genes is at its most precise and reliable when dealing with known protein coding genes. But all of the different concepts of the gene have been and continue to be important in numerous areas of human thought.

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10

Wan, Simmy C. T. Studies of variant SHP-1 protein tyrosine phosphatases in human epithelial cells. 2004.

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11

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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12

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 phenotypes can be distinguished. Adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD) are the most frequent variants. At least 80% of female carriers will eventually develop neurological symptoms similar to men with AMN. The thin and scanty scalp hair in affected men may facilitate diagnosis of X-ALD. Identification of patients is of utmost importance, as adrenocortical insufficiency can be treated, rapidly progressive cerebral demyelination can be halted, and prenatal diagnostic testing is available. Furthermore, symptomatic therapies and multidisciplinary support may help patients coping with this disease.

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13

Hope, James, and Mark P. Dagleish. Prion-protein-related diseases of animals and man. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198570028.003.0041.

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Scrapie, bovine spongiform encephalopathy (BSE), Creutzfeldt–Jakob disease (CJD), and related diseases of mink (transmissible mink encephalopathy), mule deer and elk (chronic wasting disease) are the founder members of a group of diseases called the transmissible degenerative (or spongiform) encephalopathies (TSE). These diseases can be transmitted by prions from affected to healthy animals by inoculation or by feeding diseased tissues. Prions are cellular proteins that can transfer metabolic and pathological phenotypes vertically from parent to progeny or horizontally between cells and animals. TSEs are characterised by the accumulation of the prion form of the mammalian prion protein (PrPC) in the central nervous system or peripheral tissues of animals and humans. Mutations of the human PrP gene are linked to rare, familial forms of disease and prion-protein gene polymorphisms in humans and other species are linked to survival time and disease characteristics in affected individuals. Iatrogenic transmission of CJD in man has occurred, and a variant form of CJD (vCJD) is due to cross-species transmission of BSE from cattle to humans. Atypical forms of scrapie and BSE have been identified during large-scale monitoring for TSEs worldwide. This chapter outlines our current understanding of scrapie, BSE, CJD and other TSEs and highlights recent progress in defining the role in disease of the prion protein, PrP.

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14

Horsley, Alex. Genetics and pathophysiology. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780198702948.003.0001.

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This chapter describes the genetics and inheritance of CF. Different mutations have different effects on the CFTR protein, some leading to no CFTR being expressed at all and others to a poorly functioning variant. In the new era of mutation-specific therapies, the specific mutation expressed in a patient has important implications for their treatment.

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15

Mastrianni, James A., and Joshuae G. Gallardo. Prion Diseases. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0166.

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Prion diseases are transmissible fatal neurodegenerative disorders resulting from the accumulation of misfolded prion protein. Although primarily sporadic diseases, 5% to 10% result from a mutation of the prion protein gene (PRNP), and less than 1% occur from exposure to prions. The current family of prion diseases includes Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), fatal insomnia (FI), variant CJD (vCJD), and variably protease-sensitive prionopathy (VPSPr). Kuru is a disease of historical interest that was transmitted through cannibalistic rituals. Iatrogenic CJD (iCJD) is the result of secondary transmission of prion disease from contaminated biologicals.

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16

Graff-Radford, Jonathan, and Keith A. Josephs. Frontotemporal Lobar Degeneration. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0018.

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Frontotemporal dementia (FTD) is an uncommon but important form of degenerative disease characterized by clinical syndromes that result from degeneration of the frontal and temporal lobes. FTD is divided based on clinical presentation into behavioral variant FTD (bvFTD), semantic dementia, and progressive nonfluent/agrammatic aphasia. Several recent studies have advanced our knowledge of the genetics of FTD, with the three most common FTD genes being microtubule-associated protein tau (MAPT) and progranulin (GRN), and a noncoding repeat expansion in C9ORF72. Tau and TDP-43 are the most common pathologies associated with FTD. No pharmacological therapies are currently approved for use in FTD.

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17

Lewis, Lora. Omicron Covid Variant Prevention Guide: Learn How You Can Protect Yourself and Your Family from the New Deadliest Virus. Independently Published, 2021.

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18

Siebert, Stefan, Sengupta Raj, and Alexander Tsoukas. The genetics of axial spondyloarthritis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198755296.003.0004.

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Family and twin studies have long suggested a large genetic component in ankylosing spondylitis (AS). The genetic association with HLA-B27 remains one of the strongest single gene variant associations reported in any complex polygenic disease. The exact mechanism by which HLA-B27 contributes to AS remains unknown, with three main theories proposed: the arthritogenic peptide, endoplasmic reticulum stress with unfolded protein response, and homodimerization theories. Genome-wide association studies have identified a number of other important susceptibility genes for AS, several of which overlap with other spondyloarthritis conditions. Of these, ERAP1 and IL-23R, are covered in more detail, highlighting their functional importance.

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19

Vernon, Hilary. Phenylketonuria. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0064.

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Phenylketonuria is an autosomal recessive biochemical disorder most often resulting from a deficiency of phenylalanine hydroxylase, the enzyme which catalyzes the conversion of phenylalanine to tyrosine. The remainder of the cases are caused by abnormalities in the phenylalanine hydroxylase cofactor, tetrahydrobiopterin. Phenylketonuria can be divided into three subgroups based on the elevation of plasma phenylalanine in the untreated state: “classical,” “variant,” and “benign.” Untreated individuals with classical phenylketonuria develop neurocognitive abnormalities including seizures, microcephaly, and severe intellectual disability. Other clinical effects include a musty body odor, eczema, and reduced skin pigmentation. Treatment, which includes dietary restriction of phenylalanine, supplementation with synthetic protein, and, in some cases, administration of a synthetic form of tetrahydrobiopterin, is successful in preventing the long-term consequences of phenylketonuria.

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20

Dworatzek, Paula Darlene Nesbitt. Cross sectional and postprandial phenotypes of human subjects with the T54 variant of fatty acid-binding protein 2 (FABP2) gene and the effect of different fat sources. 2004.

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21

Vermeulen, Roel, Douglas A. Bell, Dean P. Jones, Montserrat Garcia-Closas, Avrum Spira, Teresa W. Wang, Martyn T. Smith, Qing Lan, and Nathaniel Rothman. Application of Biomarkers in Cancer Epidemiology. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0006.

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Advancements in OMICs are now enabling investigators to explore comprehensively the biological consequences of exogenous and endogenous exposures by detecting molecular signatures of exposure, early signs of adverse biological effects, preclinical disease, and molecularly defined cancer subtypes. These new technologies have proven invaluable for assembling a comprehensive portrait of human exposure, health, and disease. This includes hypothesis-driven biomarkers, as well as platforms that can agnostically analyze entire biologic processes and “compartments,” including the measurement of small molecules (metabolomics), DNA polymorphisms and rarer inherited variants (genomics), methylation and microRNA (epigenomics), chromosome-wide alterations, mRNA (transcriptomics), proteins (proteomics), and the microbiome (microbiomics). Although the implementation of these technologies in epidemiologic studies has already shown great promise, some challenges of particular importance must be addressed. Non-genetic OMIC markers vary over time due to both random variation and physiologic changes. Therefore, there is an urgent need for cohorts to collect repeat biological samples over time.

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22

Dalbeth, Nicola. Epidemiology. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198748311.003.0003.

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The aetiopathogenesis of gout is initiated by urate overproduction and uric acid under-excretion, leading to hyperuricaemia. Foods such as seafood, red meat, beer, and sugar-sweetened beverages contribute to overproduction. Under-excretion is mediated by renal and gut uric acid transporters such as SLC2A9, ABCG2, and URAT1. In hyperurcaemia, there is formation of monosodium urate (MSU) crystals in joints, with acute gouty arthritis mediated by the innate immune system occurring in response to these crystals. Factors such as urate concentration, proteins present in synovial fluid, temperature, and pH control crystal nucleation and growth. Activation of the inflammasome by MSU crystals and production of interleukin-1ß‎ is central to acute gouty arthritis. Advanced gout occurs when there is persistent gouty arthritis and tophus with the tophus being an organized immune tissue response to MSU crystals that involves both innate and adaptive immune cells. Progression through the gout checkpoints (hyperuricaemia, MSU crystal formation, and immune response) is governed by inherited genetic variants, lifetime environmental exposures, and their interaction.

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23

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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24

Piñar Gallardo, Antonio. Cerebros en obras y en llamas "De autillo a búho nival" : Altas Capacidades Intelectuales en defensa de la aceleración. Universidad Internacional de Andalucía, 2016. http://dx.doi.org/10.56451/10334/3667.

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«Un país que no mima, cuida, protege y prepara adecuadamente su mejor activo, “para el mundo que viene”, está condenado a una gran dependencia externa, al no progreso social y al estancamiento, en la competitiva Era de la Globalización…». ¿Qué está ocurriendo con las personas de Altas Capacidades Intelectuales (AACC), en nuestros entornos más inmediatos? Proporcionar al lector la posibilidad de conocer algunas «experiencias positivas y gratas» del autor, vividas en el trato con las «personas de AACC», –a lo largo de décadas– reflejado en un recorrido «desde la infancia hasta el mundo del trabajo» con preguntas y testimonios variados…, nos impulsa a animar y creer seriamente, que «otra realidad diferente a la actual» en el panorama estatal de las AACC, es necesaria ¡ya!; ya que el estado de la cuestión a nivel del Estado, en lo relativo a la «atención a las AACC», –que posiblemente, Vd. ya conoce–, es más que triste y altamente deficitario… Actuar sin mayor dilación para que los suaves vientos de cambio, que se están produciendo en educación impulsen adecuadamente las AACC y su «adecuada visibilidad y atención», es una necesidad que no debiera demorarse más en el tiempo.

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