CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: Report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26-29 March 2014

被引:35
作者
Beekman, Jeffrey M. [1 ]
Sermet-Gaudelus, Isabelle [2 ]
de Boeck, Kris [3 ]
Gonska, Tanja [4 ,5 ]
Derichs, Nico [6 ]
Mall, Marcus A. [7 ,8 ]
Mehta, Anil [9 ]
Martin, Ulrich [10 ]
Drumm, Mitch [11 ]
Amaral, Margarida D. [12 ]
机构
[1] Univ Med Ctr, Wilhelmina Childrens Hosp, Dept Pediat Pulmonol & Lab Translat Immunol, Utrecht, Netherlands
[2] Univ Paris 04, Hop Necker, INSERM, U1551,Unite Pneumopediat Allergol, Paris, France
[3] Univ Hosp Gasthuisberg, Dept Pediat, Leuven, Belgium
[4] Univ Toronto, Dept Pediat, Toronto, ON, Canada
[5] Hosp Sick Children, Res Inst, Toronto, ON M5G 1X8, Canada
[6] Charite, Christiane Herzog Cyst Fibrosis Ctr, D-13353 Berlin, Germany
[7] Heidelberg Univ, Dept Translat Pulmonol, Div Pediat Pulmonol & Allergy, D-69115 Heidelberg, Germany
[8] Heidelberg Univ, Cyst Fibrosis Ctr, Translat Lung Res Ctr Heidelberg TLRC, D-69115 Heidelberg, Germany
[9] Univ Dundee, Div Med Sci, Dundee DD1 4HN, Scotland
[10] Hannover Med Sch, Dept Cardiothorac Transplantat & Vasc Surg, Leibniz Res Labs Biotechnol & Artificial Organs L, Hannover, Germany
[11] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA
[12] Univ Lisbon, Fac Sci, Ctr Biodivers Funct & Integrat Genom, P-1699 Lisbon, Portugal
关键词
INTESTINAL CURRENT MEASUREMENT; PLURIPOTENT STEM-CELLS; RESIDUAL CHLORIDE SECRETION; ADRENERGIC SWEAT SECRETION; CYSTIC-FIBROSIS; RECTAL BIOPSIES; TRANSPORT; COLON; F508DEL-CFTR; PHENOTYPE;
D O I
10.1016/j.jcf.2014.05.007
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
引用
收藏
页码:363 / 372
页数:10
相关论文
共 69 条
[1]   Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation [J].
Accurso, Frank J. ;
Rowe, Steven M. ;
Clancy, J. P. ;
Boyle, Michael P. ;
Dunitz, Jordan M. ;
Durie, Peter R. ;
Sagel, Scott D. ;
Hornick, Douglas B. ;
Konstan, Michael W. ;
Donaldson, Scott H. ;
Moss, Richard B. ;
Pilewski, Joseph M. ;
Rubenstein, Ronald C. ;
Uluer, Ahmet Z. ;
Aitken, Moira L. ;
Freedman, Steven D. ;
Rose, Lynn M. ;
Mayer-Hamblett, Nicole ;
Dong, Qunming ;
Zha, Jiuhong ;
Stone, Anne J. ;
Olson, Eric R. ;
Ordonez, Claudia L. ;
Campbell, Preston W. ;
Ashlock, Melissa A. ;
Ramsey, Bonnie W. .
NEW ENGLAND JOURNAL OF MEDICINE, 2010, 363 (21) :1991-2003
[2]  
[Anonymous], 2014, LANCET RESP IN PRESS
[3]   HYPOSECRETION OF BETA-ADRENERGICALLY INDUCED SWEATING IN CYSTIC-FIBROSIS HETEROZYGOTES [J].
BEHM, JK ;
HAGIWARA, G ;
LEWISTON, NJ ;
QUINTON, PM ;
WINE, JJ .
PEDIATRIC RESEARCH, 1987, 22 (03) :271-276
[4]   Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis [J].
Bronsveld, I ;
Mekus, F ;
Bijman, J ;
Ballmann, M ;
Greipel, J ;
Hundrieser, J ;
Halley, DJJ ;
Laabs, U ;
Busche, R ;
De Jonge, HR ;
Tümmler, B ;
Veeze, HJ .
GASTROENTEROLOGY, 2000, 119 (01) :32-40
[5]   Non-classic cystic fibrosis associated with D1152H CFTR mutation [J].
Burgel, P-R ;
Fajac, I. ;
Hubert, D. ;
Grenet, D. ;
Stremler, N. ;
Roussey, M. ;
Siret, D. ;
Languepin, J. ;
Mely, L. ;
Fanton, A. ;
Labbe, A. ;
Domblides, P. ;
Vic, P. ;
Dagorne, M. ;
Reynaud-Gaubert, M. ;
Counil, F. ;
Varaigne, F. ;
Bienvenu, T. ;
Bellis, G. ;
Dusser, D. .
CLINICAL GENETICS, 2010, 77 (04) :355-364
[6]   CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies [J].
Carvalho-Oliveira, I ;
Efthymiadou, A ;
Malhó, R ;
Nogueira, P ;
Tzetis, M ;
Kanavakis, E ;
Amaral, MD ;
Penque, D .
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 2004, 52 (02) :193-203
[7]   Multicenter Intestinal Current Measurements in Rectal Biopsies from CF and Non-CF Subjects to Monitor CFTR Function [J].
Clancy, John P. ;
Szczesniak, Rhonda D. ;
Ashlock, Melissa A. ;
Ernst, Sarah E. ;
Fan, Lijuan ;
Hornick, Douglas B. ;
Karp, Philip H. ;
Khan, Umer ;
Lymp, James ;
Ostmann, Alicia J. ;
Rezayat, Amir ;
Starner, Timothy D. ;
Sugandha, Shajan P. ;
Sun, Hongtao ;
Quinney, Nancy ;
Donaldson, Scott H. ;
Rowe, Steven M. ;
Gabriel, Sherif E. .
PLOS ONE, 2013, 8 (09)
[8]   Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies [J].
Clarke, Luka A. ;
Sousa, Lisete ;
Barreto, Celeste ;
Amaral, Margarida D. .
RESPIRATORY RESEARCH, 2013, 14
[9]   Evaluation of the intestinal current measurement method as a diagnostic test for cystic fibrosis [J].
Cohen-Cymberknoh, Malena ;
Yaakov, Yasmin ;
Shoseyov, David ;
Shteyer, Eyal ;
Schachar, Edna ;
Rivlin, Joseph ;
Bentur, Lea ;
Picard, Elie ;
Aviram, Micha ;
Israeli, Eran ;
Kerem, Eitan ;
Wilschanski, Michael .
PEDIATRIC PULMONOLOGY, 2013, 48 (03) :229-235
[10]   New clinical diagnostic procedures for cystic fibrosis in Europe [J].
De Boeck, K. ;
Derichs, N. ;
Fajac, I. ;
de Jonge, H. R. ;
Bronsveld, I. ;
Sermet, I. ;
Vermeulen, F. ;
Sheppard, D. N. ;
Cuppens, H. ;
Hug, M. ;
Melotti, P. ;
Middleton, P. G. ;
Wilschanski, M. .
JOURNAL OF CYSTIC FIBROSIS, 2011, 10 :S53-S66