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Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

The international journal of biochemistry & cell biology, 2014-07, Vol.52, p.94-102

2014

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Structure-Based Understanding of ABCA3 Variants

International journal of molecular sciences, 2021-09, Vol.22 (19), p.10282

2021

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The Impact of Air Pollution on the Course of Cystic Fibrosis: A Review

Frontiers in physiology, 2022-06, Vol.13, p.908230-908230

2022

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Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein

International journal of molecular sciences, 2021-04, Vol.22 (8), p.4252

2021

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Association analysis of the surfactant protein-C gene to childhood asthma

The Journal of asthma, 2022-01, Vol.59 (1), p.1-11

2022

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Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.280-280, Article 280

2019

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Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR

International journal of molecular sciences, 2020-07, Vol.21 (14), p.4844

2020

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Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis

Journal of the American Heart Association, 2024-07, Vol.13 (13), p.e034723

2024

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Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination

Frontiers in pharmacology, 2022-04, Vol.13, p.856804-856804

2022

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Extracardiac soft tissue uptake, evidenced on early 99mTc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic value

European journal of nuclear medicine and molecular imaging, 2020-09, Vol.47 (10), p.2396-2406

2020

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Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees

ERJ open research, 2023-11, Vol.9 (6), p.472

2023

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COMMD1-mediated ubiquitination regulates CFTR trafficking

PloS one, 2011-03, Vol.6 (3), p.e18334-e18334

2011

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Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

Frontiers in pediatrics, 2023-01, Vol.10, p.978598-978598

2023

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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

ERJ open research, 2018-01, Vol.4 (1), p.80-2017

2018

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Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide and High-Sensitivity Troponin T Levels in the Natural History of Transthyretin Amyloid Cardiomyopathy and Their Evolution after Tafamidis Treatment

Journal of clinical medicine, 2021-10, Vol.10 (21), p.4868

2021

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Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes, 2021-04, Vol.12 (5), p.670

2021

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Echocardiographic Patterns of Left Ventricular Diastolic Function in Cardiac Amyloidosis: An Updated Evaluation

Journal of clinical medicine, 2021-10, Vol.10 (21), p.4888

2021

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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier

PLoS genetics, 2010-10, Vol.6 (10), p.e1001153

2010

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History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis

ESC Heart Failure, 2021-12, Vol.8 (6), p.5501-5512

2021

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Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis

Frontiers in cardiovascular medicine, 2023-03, Vol.10, p.1124660-1124660

2023

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Prevalence and determinants of iron deficiency in cardiac amyloidosis

ESC Heart Failure, 2022-04, Vol.9 (2), p.1314-1327

2022

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The most frequent ABCA3 nonsense mutation -p.Tyr1515 (Y1515X) causing lethal neonatal respiratory failure in a term neonate

Annals of thoracic medicine, 2017-07, Vol.12 (3), p.213-215

2017

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Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker

FEBS letters, 2004-01, Vol.558 (1), p.52-56

2004

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Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators

The Journal of pharmacology and experimental therapeutics, 2009-09, Vol.330 (3), p.783-791

2009

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Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

Structure-Based Understanding of ABCA3 Variants

The Impact of Air Pollution on the Course of Cystic Fibrosis: A Review

Small Hsps as Therapeutic Targets of Cystic Fibrosis Transmembrane Conductance Regulator Protein

Association analysis of the surfactant protein-C gene to childhood asthma

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR

Prevalence, Characteristics, and Impact on Prognosis of Aortic Stenosis in Patients With Cardiac Amyloidosis

Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination

Extracardiac soft tissue uptake, evidenced on early 99mTc-HMDP SPECT/CT, helps typing cardiac amyloidosis and demonstrates high prognostic value

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees

COMMD1-mediated ubiquitination regulates CFTR trafficking

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide and High-Sensitivity Troponin T Levels in the Natural History of Transthyretin Amyloid Cardiomyopathy and Their Evolution after Tafamidis Treatment

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Echocardiographic Patterns of Left Ventricular Diastolic Function in Cardiac Amyloidosis: An Updated Evaluation

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier

History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis

Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis

Prevalence and determinants of iron deficiency in cardiac amyloidosis

The most frequent ABCA3 nonsense mutation -p.Tyr1515 (Y1515X) causing lethal neonatal respiratory failure in a term neonate

Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker

Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators

Heart Transplantation, Either Alone or Combined With Liver and Kidney, a Viable Treatment Option for Selected Patients With Severe Cardiac Amyloidosis

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