Related references
Note: Only part of the references are listed.Major Decrease in Lung Transplantation for Patients with Cystic Fibrosis in France
Clemence Martin et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2022)
Mechanism of CFTR correction by type I folding correctors
Karol Fiedorczuk et al.
CELL (2022)
Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies
Sofia S. Ramalho et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Donatello Salvatore et al.
JOURNAL OF CYSTIC FIBROSIS (2022)
Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants
Karen S. Raraigh et al.
JOURNAL OF CYSTIC FIBROSIS (2022)
Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold
Frederic Angles et al.
COMMUNICATIONS BIOLOGY (2022)
Triangulating variation in the population to define mechanisms for precision management of genetic disease
Chao Wang et al.
STRUCTURE (2022)
Molecular structures reveal synergistic rescue of Δ508 CFTR by Trikafta modulators
Karol Fiedorczuk et al.
SCIENCE (2022)
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Donatello Salvatore et al.
JOURNAL OF CYSTIC FIBROSIS (2022)
Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR
Nesrine Baatallah et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2021)
The molecular evolution of function in the CFTR chloride channel
Daniel T. Infield et al.
JOURNAL OF GENERAL PHYSIOLOGY (2021)
Patient personalized translational tools in cystic fibrosis to transform data from bench to bed-side and back
Kavisha Arora et al.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2021)
Stability Prediction for Mutations in the Cytosolic Domains of Cystic Fibrosis Transmembrane Conductance Regulator
Malkeet Singh Bahia et al.
JOURNAL OF CHEMICAL INFORMATION AND MODELING (2021)
Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R
Arnaud Billet et al.
FRONTIERS IN PHARMACOLOGY (2020)
mCSM-membrane: predicting the effects of mutations on transmembrane proteins
Douglas E. Pires et al.
NUCLEIC ACIDS RESEARCH (2020)
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population
Katarzyna Zybert et al.
PEDIATRIC PULMONOLOGY (2020)
PypKa: A Flexible Python Module for Poisson-Boltzmann-Based pKa Calculations
Pedro B. P. S. Reis et al.
JOURNAL OF CHEMICAL INFORMATION AND MODELING (2020)
CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates
Hideki Shishido et al.
NATURE COMMUNICATIONS (2020)
R560S: A class II CFTR mutation that is not rescued by current modulators
Nikhil T. Awatade et al.
JOURNAL OF CYSTIC FIBROSIS (2019)
VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles
Dominic Keating et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Molecular structure of the ATP-bound, phosphorylated human CFTR
Zhe Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators
Sangwoo T. Han et al.
JCI INSIGHT (2018)
Molecular modelling and molecular dynamics of CFTR
Isabelle Callebaut et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2017)
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
Vito Terlizzi et al.
JOURNAL OF MEDICAL GENETICS (2017)
Cystic Fibrosis in the African Diaspora
Cheryl Stewart et al.
ANNALS OF THE AMERICAN THORACIC SOCIETY (2017)
Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis
Miqueias Lopes-Pacheco et al.
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2017)
Molecular Structure of the Human CFTR Ion Channel
Fangyu Liu et al.
CELL (2017)
Atomic Structure of the Cystic Fibrosis Transmembrane Conductance Regulator
Zhe Zhang et al.
CELL (2016)
Correctors Rescue CFTR Mutations in Nucleotide-Binding Domain 1 (NBD1) by Modulating Proteostasis
Miqueias Lopes-Pacheco et al.
CHEMBIOCHEM (2016)
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
Gudio Veit et al.
MOLECULAR BIOLOGY OF THE CELL (2016)
Progress in therapies for cystic fibrosis
Kris De Boeck et al.
LANCET RESPIRATORY MEDICINE (2016)
Hallmarks of therapeutic management of the cystic fibrosis functional landscape
Margarida D. Amaral et al.
JOURNAL OF CYSTIC FIBROSIS (2015)
Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis
Nikhil T. Awatade et al.
EBIOMEDICINE (2015)
Cystic fibrosis genetics: from molecular understanding to clinical application
Garry R. Cutting
NATURE REVIEWS GENETICS (2015)
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function
Fredrick Van Goor et al.
JOURNAL OF CYSTIC FIBROSIS (2014)
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein
Lihua He et al.
FASEB JOURNAL (2013)
VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1
Hong Yu Ren et al.
MOLECULAR BIOLOGY OF THE CELL (2013)
Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa
M. Boudaya et al.
ANNALS OF HUMAN BIOLOGY (2012)
Correction of Both NBD1 Energetics and Domain Interface Is Required to Restore ΔF508 CFTR Folding and Function
Wael M. Rabeh et al.
CELL (2012)
New Model of Cystic Fibrosis Transmembrane Conductance Regulator Proposes Active Channel-like Conformation
James Dalton et al.
JOURNAL OF CHEMICAL INFORMATION AND MODELING (2012)
Assessing the Disease-Liability of Mutations in CFTR
Claude Ferec et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
Fredrick Van Goor et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Mutation-Specific Potency and Efficacy of Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Potentiators
Antonella Caputo et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2009)
Atomic model of human cystic fibrosis transmembrane conductance regulator: Membrane-spanning domains and coupling interfaces
J. -P. Mornon et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2008)
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C. Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis
Margarida D. Amaral et al.
TRENDS IN PHARMACOLOGICAL SCIENCES (2007)
Cystic fibrosis: a disease of vulnerability to airway surface dehydration
Richard C. Boucher
TRENDS IN MOLECULAR MEDICINE (2007)
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of spanish ancestry
M. J. Alonso et al.
ANNALS OF HUMAN GENETICS (2007)
Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms
Monica Roxo-Rosa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
Steven Keiles et al.
PANCREAS (2006)
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens
CC Wu et al.
HUMAN REPRODUCTION (2005)
The FoldX web server: an online force field
J Schymkowitz et al.
NUCLEIC ACIDS RESEARCH (2005)
Impact of the ΔF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure
HA Lewis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Rescue of Delta F508 and other misprocessed CFTR mutants by a novel quinazoline compound
Tip W. Loo et al.
MOLECULAR PHARMACEUTICS (2005)
Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients
K Decaestecker et al.
EUROPEAN RESPIRATORY JOURNAL (2004)
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis
KL Danziger et al.
HUMAN REPRODUCTION (2004)
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study
KG Monaghan et al.
GENETICS IN MEDICINE (2004)
The I148T CFTR allele occurs on multiple haplotypes:: A complex allele is associated with cystic fibrosis
EM Rohlfs et al.
GENETICS IN MEDICINE (2002)
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden:: Identification of 12 novel mutations
B Strandvik et al.
GENETIC TESTING (2001)
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis
JY Choi et al.
NATURE (2001)
Modeling of loops in protein structures
A Fiser et al.
PROTEIN SCIENCE (2000)
Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations
ALF Bernardino et al.
GENETIC TESTING (2000)
Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra
K Vouk et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2000)
The Protein Data Bank
HM Berman et al.
NUCLEIC ACIDS RESEARCH (2000)
Share Paper
