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Книги з теми "CFTR function"

Автор: Grafiati

Опубліковано: 11 березня 2023

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1

Nieto, Juan Miguel. Spinning Strings and Correlation Functions in the AdS/CFT Correspondence. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-96020-3.

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2

United States. Congress. House. Committee on Energy and Commerce. Subcommittee on Telecommunications and Finance. SEC/CFTC jurisdictional issues: Hearings before the Subcommittee on Telecommunications and Finance of the Committee on Energy and Commerce, House of Representatives, One Hundred First Congress, second session, on H.R. 4477, a bill to combine the functions of the Commodity Futures Trading Commission and the Securities and Exchange Commission ... May 3 and 24, 1990. Washington: U.S. G.P.O., 1990.

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3

Farinha, Carlos M. M. CFTR and Cystic Fibrosis: From Structure to Function. Springer, 2017.

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4

Cao, Lishuang. Modulation of Cftr & Enac Channel Function by Interacting Proteins & Trafficking. Leuven University Press, 2005.

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5

Kogan, Ilana. Regulation and function of the cystic fibrosis transmembrane conductance regulator (CFTR). 2003.

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6

Wei, Lin. Electrophysiological Studies of Cftr Function: Effects of Cftr Mutations and Interactions With Other Chloride Channels (Acta Biomedica Lovaniensia, 236). Leuven Univ Pr, 2001.

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7

Snell, Jamey, and Thomas J. Mancuso. Cystic Fibrosis. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0023.

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Cystic fibrosis (CF) is an inherited, autosomal recessive, multisystem disease. Dysfunction of the cystic fibrosis transmembrane conductance regulator protein (CFTR) in epithelial cells is the primary defect in CF. Defects in CFTR are the cause for lung disease, exocrine pancreatic insufficiency and failure, male infertility, and liver disease. CF can present with a variety of respiratory and gastrointestinal signs, including meconium ileus in the newborn period, hypernatremic dehydration, pulmonary insufficiency, nasal polyps, and insulin-dependent diabetes mellitus. As affected children grow, dysfunction in CFTR leads to chronic and progressive lung disease, characterized by suppurative infection and the development of bronchiectasis. CFTR dysfunction also affects exocrine function, leading to pancreatic insufficiency, malabsorption, and growth failure. In the past, history and physical exam with sweat chloride testing were the cornerstones of diagnosis. Diagnosis is now made with the newborn screening test for immunoreactive trypsinogen.

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8

Taylor, Christopher, and Sally Connolly. Gastrointestinal disease and nutrition. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780198702948.003.0007.

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This chapter discusses the common gastrointestinal and nutritional consequences of cystic fibrosis (CF) including hepato-biliary disease. The pathophysiology of obstructive gut disease (meconium ileus and distal ileal obstruction) is discussed with reference to CFTR dysfunction. The diagnosis and management of gastro-oesophageal reflux, an increasingly common problem in both children and adults with CF, is also considered in some depth. A new section on eosinophilic gut disease has been added. The importance of nutrition in maintaining lung function is emphasized with a section on pancreatic enzyme physiology and guidance on optimizing pancreatic enzyme replacement therapy. An investigation plan to exclude concomitant gut disease for a child with poor weight gain is given, together with a section on invasive nutritional support. The diagnosis of hepatic disease and biliary complications is considered together with suggested treatments and a long-term monitoring plan

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9

Edenborough, Frank P. Fertility, contraception, and pregnancy. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780198702948.003.0012.

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This chapter describes the physiological effect of CFTR dysfunction on the development of the reproductive system. Young people with CF and their parents are poorly educated regarding sexual function and becoming parents themselves. They often wish to learn this from their CF teams. Male and female potency, reproductive genetics, and the need for genetic and general counselling before embarking on pregnancy are covered. Contraception, emphasizing the need to avoid unwanted pregnancy and sexually transmitted diseases, and assisted reproductive techniques are described. We discuss the evolving medical and obstetric management of pregnancy, including the likely need for optimizing drug treatment or escalating to more intensive treatment for intercurrent infection. Optimal delivery in the context of maternal health, fetal risks, and longer term maternal outcomes are discussed. Pregnancy post transplantation and termination of unwanted pregnancy or where the mother is too poorly to continue conclude the chapter.

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10

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 chloride channel membrane transport protein [cystic fibrosis transmembrane conductance regulator (CFTR)]. With respect to the function, this affects mainly the exocrine glands of secretory cells, sinuses, lungs, pancreas, liver, and the reproductive tract of the human body leading to a highly viscous, water-depleted secretion. The secretion cannot leave the glands and in consequence causes local inflammation and destruction of various organs. The main symptoms include chronic inflammatory pulmonary disease with a progressive loss of lung function, exocrine and sometimes endocrine pancreas insufficiency, and an excessive salt loss through the sweat glands.1 A summary of the signs and symptoms of CF will be given with a special emphasis on the effect of exercise performance and capacity.

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11

Beattie, R. Mark, Anil Dhawan, and John W.L. Puntis. Cystic fibrosis-associated liver disease. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0022.

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Pathophysiology 162Clinical features 162Diagnosis 163Management 164Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) (see Chapter 21). CFTR functions as a transmembrane chloride channel in the apical membrane of most secretory epithelia and the disease thus affects lungs, pancreas, exocrine glands, gut, and liver. In CF-associated liver disease the biliary tract is most commonly involved in a spectrum from asymptomatic to biliary cirrhosis. The liver disease runs from mild and subclinical to severe cirrhosis and portal hypertension. Clinical disease is seen in 4–6% of cases, but there are biochemical abnormalities in 20–50%. At autopsy, fibrosis is present in 20% and steatosis in 50%....

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12

Nieto, Juan Miguel. Spinning Strings and Correlation Functions in the AdS/CFT Correspondence. Springer International Publishing AG, 2019.

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13

Nieto, Juan Miguel. Spinning Strings and Correlation Functions in the AdS/CFT Correspondence. Springer, 2018.

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14

Conformal Field Theory, Automorphic Forms and Related Topics: CFT, Heidelberg, September 19-23, 2011. Springer, 2014.

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15

Weissauer, Rainer, and Winfried Kohnen. Conformal Field Theory, Automorphic Forms and Related Topics: CFT, Heidelberg, September 19-23 2011. Springer London, Limited, 2014.

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16

Weissauer, Rainer, and Winfried Kohnen. Conformal Field Theory, Automorphic Forms and Related Topics: CFT, Heidelberg, September 19-23, 2011. Springer, 2016.

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17

Moreno-Lax, Violeta. EU Non-Refoulement: (The Irrelevance of) Territoriality and Pre-Border Controls. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198701002.003.0008.

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This chapter identifies the content and scope of application of the EU prohibition of refoulement. Following the ‘cumulative standards’ approach, the analysis incorporates developments in international human rights law (IHRL) and international refugee law (IRL). Taking account of the prominent role of the ECHR and the Refugee Convention (CSR51) as sources of Article 19 CFR, these are the two main instruments taken in consideration. The scope of application of Articles 33 CSR51 and 3 ECHR will be identified in turns. Autonomous requirements of EU law will be determined by reference to the asylum acquis as interpreted by the CJEU. The main focus will be on the establishment of the territorial reach of EU non-refoulement. The idea that it may be territorially confined will be rejected. Drawing on the ‘Fransson paradigm’, a ‘functional’ understanding of the ‘implementation of EU law’ standard under Article 51 CFR will be put forward, as the decisive factor to determine applicability of Charter provisions. The implications of non-refoulement for the different measures of extraterritorial control considered in Part I will be delineated at the end.

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18

Moreno-Lax, Violeta. The Fundamental Rights Acquis: An ‘Integrative Approach’ to Interpretation—The ‘Aggregate Standards’ Model. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198701002.003.0007.

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This chapter will catalogue the multiple ways in which human rights penetrate the EU legal order and the different functions they play qua (internalised/’Europeanised’) ‘fundamental rights’, both as standards of validity and as means of interpretation of EU acts. The main preoccupation is to identify the sources of fundamental rights obligations, retrace their origin and overall significance within the EU legal system, and determine the rules relevant to their interpretation and application. The ‘integrated’ or ‘cumulative standards’ approach will be developed against this background. According to this method, the precise level of protection that Charter rights afford will be determined by reference to Articles 52 and 53 thereof, taking the ECHR, other ‘international obligations common to the Member States’ (Recital 5 CFR), and any relevant ‘autonomous requirements’ of EU law into account. Drawing on post-Lisbon case law, it will be shown how any other approach fails to ensure compliance with all relevant requirements simultaneously. This technique will inform assessments in chapters of Part II.

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