R560S: A class II CFTR mutation that is not rescued by current modulators.
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Nikhil T. Awatade | Hugo M. Botelho | M. Amaral | C. Farinha | J. Beekman | A. Vonk | E. de Poel | S. Ramalho | I. Silva | Verónica Felício
[1] A. Windemuth,et al. Comprehensive mapping of Cystic Fibrosis mutations to CFTR protein identifies mutation clusters and molecular docking predicts corrector binding site , 2018, bioRxiv.
[2] A. Ramalho,et al. mRNA‐based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity , 2017, Clinical genetics.
[3] Jue Chen,et al. Atomic Structure of the Cystic Fibrosis Transmembrane Conductance Regulator , 2016, Cell.
[4] M. Amaral,et al. Progress in therapies for cystic fibrosis. , 2016, The Lancet. Respiratory medicine.
[5] H. Clevers,et al. Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis , 2016, Science Translational Medicine.
[6] M. Maiuri,et al. A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR , 2016, Cell Death and Differentiation.
[7] A. Heinzmann,et al. Intestinal Current Measurements Detect Activation of Mutant CFTR in Patients with Cystic Fibrosis with the G551D Mutation Treated with Ivacaftor. , 2015, American journal of respiratory and critical care medicine.
[8] Xiaohong Huang,et al. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. , 2015, The New England journal of medicine.
[9] M. Amaral,et al. Increased efficacy of VX-809 in different cellular systems results from an early stabilization effect of F508del-CFTR , 2015, Pharmacology research & perspectives.
[10] H. Janssens,et al. A bioassay using intestinal organoids to measure CFTR modulators in human plasma. , 2015, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[11] Nikhil T. Awatade,et al. Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis , 2014, EBioMedicine.
[12] Garry R. Cutting,et al. Cystic fibrosis genetics: from molecular understanding to clinical application , 2014, Nature Reviews Genetics.
[13] M. Maiuri,et al. Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation , 2014, Autophagy.
[14] George P Patrinos,et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene , 2013, Nature Genetics.
[15] Marisa Sousa,et al. Revertants, low temperature, and correctors reveal the mechanism of F508del-CFTR rescue by VX-809 and suggest multiple agents for full correction. , 2013, Chemistry & biology.
[16] H. Clevers,et al. Growing Self-Organizing Mini-Guts from a Single Intestinal Stem Cell: Mechanism and Applications , 2013, Science.
[17] Hans Clevers,et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids , 2013, Nature Medicine.
[18] M. Amaral,et al. Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility , 2013, BMC Gastroenterology.
[19] M. Amaral,et al. Control of TMEM16A by INO‐4995 and other inositolphosphates , 2013, British journal of pharmacology.
[20] M. Amaral,et al. Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis , 2012, PloS one.
[21] P. Negulescu,et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809 , 2011, Proceedings of the National Academy of Sciences.
[22] J. Gustafson,et al. Cystic Fibrosis , 2009, Journal of the Iowa Medical Society.
[23] D. Cyr,et al. Mechanisms for rescue of correctable folding defects in CFTRDelta F508. , 2009, Molecular biology of the cell.
[24] P. Negulescu,et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 , 2009, Proceedings of the National Academy of Sciences.
[25] C. Soares,et al. Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms , 2006, Proceedings of the National Academy of Sciences.
[26] M. Amaral,et al. CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. , 2004, Gastroenterology.
[27] M. Amaral,et al. Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein. , 2003, Biochemical and biophysical research communications.
[28] Teresa Casals,et al. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. , 2003, Human molecular genetics.
[29] Milan Macek,et al. Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening , 2002, Human mutation.
[30] R. Kraemer,et al. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease , 1999, European Journal of Human Genetics.
[31] L. Clarke,et al. Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations. , 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[32] J. Elborn,et al. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. , 2015, The New England journal of medicine.
[33] F. van Goor,et al. Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. , 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[34] P. Robinson. Cystic fibrosis , 2001 .
[35] M. Welsh,et al. Structure and function of the CFTR chloride channel. , 1999, Physiological reviews.
[36] M. Schwarz,et al. Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C) , 1998, Human mutation.
[37] L. Chin,et al. CFTR expression and chloride secretion in polarized immortal human bronchial epithelial cells. , 1994, American journal of respiratory cell and molecular biology.