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    Academic Journal

    Πηγή: PULMONOLOGIYA; Том 31, № 2 (2021); 226-236 ; Пульмонология; Том 31, № 2 (2021); 226-236 ; 2541-9617 ; 0869-0189

    Περιγραφή αρχείου: application/pdf

    Relation: https://journal.pulmonology.ru/pulm/article/view/2331/1833; Каширская Н.Ю., Красовский С.А., Черняк А.В. и др. Динамика продолжительности жизни больных муковисцидозом, проживающих в Москве, и ее связь с получаемой терапией: ретроспективный анализ 1993–2013 гг. Вопросы современной педиатрии. 2015; 14 (4): 503–508. DOI:10.15690/vsp.v14.i4.1390.; Jentsch T.J., Maritzen T., Zdebik A.A. Chloride channel diseases resulting from impaired transepithelial transport or vesicular function. J. Clin. Invest. 2005; 115 (8): 2039–2046. DOI:10.1172/JCI25470.; Kogan I., Ramjeesingh M., Li C. et al. CFTR directly mediates nucleotide-regulated glutathione flux. EMBO J. 2003; 22 (9): 1981–1989. DOI:10.1093/emboj/cdg194.; Иващенко Т.Э., Баранов В.С. Биохимические и молекулярно-генетические основы патогенеза муковисцидоза. СПб: Интермедика; 2002.; Гуськова А.А., Скоблов М.Ю., Баранова А.В. Жизнь и смерть белка CFTR. Медицинская генетика. 2007; 6 (2): 3–9.; De Boeck K. Cystic fibrosis in the year 2020: A disease with a new face. Acta Paediatr. 2020; 109 (5): 893–899. DOI:10.1111/apa.15155.; Lopes-Pacheco M. CFTR modulators: Shedding light on precision medicine for cystic fibrosis. Front. Pharmacol. 2016; 7: 275. DOI:10.3389/fphar.2016.00275.; Flume P.A., Van Devanter D.R. State of progress in treating cystic fibrosis respiratory disease. BMC Med. 2012 10, 88. DOI:10.1186/1741-7015-10-88.; Kerem E. Mutation specific therapy in CF. Paediatr. Respir. Rev. 2006; 7 (Suppl. 1): 166–169. DOI:10.1016/j.prrv.2006.04.213.; Proesmans M., Vermeulen F., De Boeck K. What’s new in cystic fibrosis? From treating symptoms to correction of the basic defect. Eur. J. Pediatr. 2008; 167 (8): 839–849. DOI:10.1007/s00431-008-0693-2.; Amaral M.D. Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients. J. Internal. Med. 2015; 277 (2): 155–166. DOI:10.1111/joim.12314.; Mall M.A., Mayer-Hamblett N., Rowe S.M. Cystic fibrosis: Emergence of highly effective targeted therapeutics and potential clinical implications. Am. J. Respir. Crit. Care Med. 2020; 201 (10): 1193–1208. DOI:10.1164/rccm.201910-1943SO.; Fajac I., Wainwright C.E. New treatments targeting the basic defects in cystic fibrosis. Press. Med. 2017; 46 (6, Pt 2): e165–175. DOI:10.1016/j.lpm.2017.01.024.; Rowe S.M., Miller S., Sorscher E.J. Cystic fibrosis. N. Engl. J. Med. 2005; 352 (19): 1992–2001. DOI:10.1056/NEJMra043184.; Kuk K., Taylor-Cousar J.L. Lumacaftor and ivacaftor in the management of patients with cystic fibrosis: current evidence and future prospects. Ther. Adv. Respir. Dis. 2015; 9 (6): 313–326. DOI:10.1177/1753465815601934.; Van Goor F., Hadida S., Grootenhuis P.D.J. et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl. Acad. Sci. USA. 2009; 106 (44): 18825–18830. DOI:10.1073/pnas.0904709106.; Ramsey B.W., Davies J., McElvaney N.G. et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N. Engl. J. Med. 2011; 365 (18):1663–1672. DOI:10.1056/NEJMoa1105185.; Flume P.A., Liou T.G., Borowitz D.S. et al. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest. 2012; 142 (3): 718–724. DOI:10.1378/chest.11-2672.; Van Goor F., Hadida S., Grootenhuis P.D.J. et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc. Natl. Acad. Sci. USA. 2011; 108 (46): 18843–18848. DOI:10.1073/pnas.1105787108.; Cain C. Cystic fibrosis two-step. SciBX. 2012; 5: 192. DOI:10.1038/scibx.2012.192.; ClinicalTrials.gov. Study of VX-809 alone and in combination with VX-770 in cystic fibrosis (CF) patients homozygous or heterozygous for the F508del-CFTR mutation. Available at: http://clinicaltrials.gov/ct2/show/NCT01225211?term=ivacaftor&intr=ivacaftor&rank=4; ClinicalTrials.gov. Study of VX-661 alone and in combination with ivacaftor in subjects homozygous or heterozygous to the f508del-cystic fibrosis transmembrane conductance regulator (CFTR) Mutation. Available at: http://clinicaltrials.gov/ct2/show/NCT01531673?term=ivacaftor&intr=ivacaftor&rank=2; Boyle M.P., Bell S.C., Konstan M.W. et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir. Med. 2014; 2 (7): 527–538. DOI:10.1016/S2213-2600(14)70132-8.; Wainwright C.E., Elborn J.S., Ramsey B.W. et al. Lumacaftor–ivacaftor in patients with cystic fibrosis homozygous for phe508del CFTR. N. Engl. J. Med. 2015; 373 (3): 220–231. DOI:10.1056/NEJMoa1409547.; Shaw M., Khan U., Clancy J.P. et al. Changes in LCI in F508del/F508del patients treated with lumacaftor/ ivacaftor: Results from the prospect study. J. Cyst. Fibros. 2020; 19 (6): 931–933. DOI:10.1016/j.jcf.2020.05.010.; Stanojevic S., Davis S.D., Retsch-Bogart G. et al. Progression of lung disease in preschool patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 2017; 195 (9): 1216–1225. DOI:10.1164/rccm.201610-2158OC.; Ratjen F., Hug C., Marigowda G. et al. Efficacy and safety of lumacaftor and ivacaftor in patients aged 6–11 years with cystic fibrosis homozygous for F508del-CFTR: a randomised, placebo-controlled phase 3 trial. Lancet Respir. Med. 2017; 5 (7): 557–567. DOI:10.1016/S2213-2600(17)30215-1.; Burgel P.R., Durieu I., Chiron R. et al. Clinical response to lumacaftor–ivacaftor in patients with cystic fibrosis according to baseline lung function. J. Cyst. Fibros. [Preprint. Posted 2020, Jun. 23]. S1569-1993(20)30752-9. DOI:10.1016/j.jcf.2020.06.012.; Taylor-Cousar J.L., Munck A., McKone E.F. et al. Tezacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del. N. Engl. J. Med. 2017; 377(21): 2013–2023. DOI:10.1056/NEJMoa1709846.; Clancy J.P., Cotton C.U., Donaldson S.H. et al. CFTR modulator theratyping: Current status, gaps and future directions. J. Cyst. Fibros. 2019; 18 (1): 22–34. DOI:10.1016/j.jcf.2018.05.004.; Southern K.W., Patel S., Sinha I.P., Nevitt S.J. Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis. Cochrane Database Syst. Rev. Intervention Version published: 2018; 8 (8): CD010966. DOI:10.1002/14651858.CD010966.pub2.; Schwarz C., Sutharsan S., Epaud R. et al. Tezacaftor/ ivacaftor in people with cystic fibrosis who stopped lumacaftor/ivacaftor due to respiratory adverse events. J. Cyst. Fibros. [Preprint. Posted 2020, Jun. 23]. S1569-1993(20)30730-X. DOI:10.1016/j.jcf.2020.06.001.; Munck A., Kerem E., Ellemunter H. et al. Tezacaftor/ ivacaftor in people with cystic fibrosis heterozygous for minimal function CFTR mutations. J. Cyst. Fibros. 2020; 19 (6): 962–968. DOI:10.1016/j.jcf.2020.04.015.; Middleton P.G., Mall M.A., Dřevínek P. et al. Elexacaftor– tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele. N. Engl. J. Med. 2019; 381 (19): 1809–1819. DOI:10.1056/NEJMoa1908639.; Mainz J.G., Arnold C., Hentschel J., Tabori H. Effects of ivacaftor in three pediatric siblings with cystic fibrosis carrying the mutations G551D and F508del. Arch. Bronconeumol. 2018; 54 (4): 232–234. DOI:10.1016/j.arbr.2017.09.013.; Megalaa R., Gopalareddy V., Champion E., Goralski J.L. Time for a gut check: Pancreatic sufficiency resulting from CFTR modulator use. Pediatr. Pulmonol. 2019; 54 (8): e16–18. DOI:10.1002/ppul.24353.; Nichols A.L., Davies J.C., Jones D., Carr S.B. Restoration of exocrine pancreatic function in older children with cystic fibrosis on ivacaftor. Paediatr. Respir. Rev. 2020; 35: 99–102. DOI:10.1016/j.prrv.2020.04.003.; Misgault B., Chatron E., Reynaud Q. et.al. Effect of one-year lumacaftor–ivacaftor treatment on glucose tolerance abnormalities in cystic fibrosis patients. J. Cyst. Fibros. 2020; 19 (5): 712–716. DOI:10.1016/j.jcf.2020.03.002.; Bailey J., Rozga M., McDonald C.M. et al. Effect of CFTR modulators on anthropometric parameters in individuals with cystic fibrosis: an evidence analysis center systematic review. J. Acad. Nutr. Diet. [Preprint. Posted 2020, Jun. 09]. S2212-2672(20)30301-4. DOI:10.1016/j.jand.2020.03.014.; Giuliano K.A., Wachi S., Drew L. et al. Use of a high-throughput phenotypic screening strategy to identify amplifiers, a novel pharmacological class of small molecules that exhibit functional synergy with potentiators and correctors. SLAS Discov. 2018; 23 (2): 111–121. DOI:10.1177/2472555217729790.; Li H., Valkenier H., Thorne A.G. et al. Anion carriers as potential treatments for cystic fibrosis: transport in cystic fibrosis cells, and additivity to channel-targeting drugs. Chemical Sci. 2019; 10 (42): 9663–9672. DOI:10.1039/C9SC04242C.; Dekkers J.F., Wiegerinck C.L., de Jonge H.R. et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat. Med. 2013; 19 (7): 939–945. DOI:10.1038/nm.3201.; Beekman J.M. Individualized medicine using intestinal responses to CFTR potentiators and correctors. Pediatr. Pulmonol. 2016; 51 (Suppl. 44): S23–34. DOI:10.1002/ppul.23553.; Dekkers J.F., van der Ent C.K., Beekman J.M. Novel opportunities for CFTR-targeting drug development using organoids. Rare Dis. 2013; 1 (1): e27112. DOI:10.4161/rdis.27112.; Boj S.F., Vonk A.M., Statia M. et al. Forskolin-induced swelling in intestinal organoids: An in vitro assay for assessing drug response in cystic fibrosis patients. J. Vis. Exp. 2017; (120): 55159. DOI:10.3791/55159.; Wilschanski M., Yahav Y., Yaakov Y. et al. Gentamicin- induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 2003; 349 (15): 1433–1441. DOI:10.1056/NEJMoa022170.; https://journal.pulmonology.ru/pulm/article/view/2331

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    Conference

    Συγγραφείς: Едгулов, М. М.

    Συνεισφορές: Букреев, Виктор Григорьевич

    Περιγραφή αρχείου: application/pdf

    Relation: Космическое приборостроение : сборник научных трудов III Всероссийского форума школьников, студентов, аспирантов и молодых ученых с международным участием, г. Томск, 8-10 апреля 2015 г.; http://earchive.tpu.ru/handle/11683/64420

    Διαθεσιμότητα: http://earchive.tpu.ru/handle/11683/64420

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    Book
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