Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine

Dysfunctional Inflammation in Cystic Fibrosis Airways: From Mechanisms to Novel Therapeutic Approaches

(2021) Alessandra Ghigo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine

(2021) Afsoon Sepahzad et al.   Genes

Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review

(2021) Jamie Duckers et al.   Journal of Clinical Medicine

Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors

(2021) Fernanda Iafusco et al.   Diagnostics

The Impact of Highly Effective CFTR Modulators on Growth and Nutrition Status

(2021) Rosara Bass et al.   Nutrients

Quantification of Phenotypic Variability of Lung Disease in Children with Cystic Fibrosis

(2021) Mirjam Stahl et al.   Genes

Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease

(2021) Vito Terlizzi et al.   Genes

Therapeutic Approach of Chronic Pseudomonas Infection in Cystic Fibrosis—A Network Meta-Analysis

(2021) Orsolya Varannai et al.   Antibiotics-Basel

Tobacco smoke exposure and socioeconomic factors are independent predictors of pulmonary decline in pediatric cystic fibrosis

(2020) Gabriela R. Oates et al.   Journal of Cystic Fibrosis

TAS2R38 is a novel modifier gene in patients with cystic fibrosis

(2020) Alice Castaldo et al.   Scientific Reports

Tobacco smoke exposure limits the therapeutic benefit of tezacaftor/ivacaftor in pediatric patients with cystic fibrosis

(2020) Elizabeth Baker et al.   Journal of Cystic Fibrosis

Persistent recovery of pancreatic function in patients with cystic fibrosis after ivacaftor

(2020) Danielle Munce et al.   PEDIATRIC PULMONOLOGY

Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine

(2019) Iwona Pranke et al.   Frontiers in Pharmacology

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

(2019) Jiafen Gong et al.   PLoS Genetics

Benefits and limitations of genome-wide association studies

(2019) Vivian Tam et al.   NATURE REVIEWS GENETICS

Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits

(2019) Melis A Aksit et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease

(2018) Wanda K. O'Neal et al.   Annual Review of Genomics and Human Genetics

Disease-modifying genetic factors in cystic fibrosis

(2018) Fernando A.L. Marson   CURRENT OPINION IN PULMONARY MEDICINE

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

(2018) Valentina Maria Sofia et al.   MOLECULAR MEDICINE

SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis

(2018) Harriet Corvol et al.   Frontiers in Pharmacology

Elucidating progression of early cystic fibrosis lung disease

(2017) Kathryn Ramsey et al.   EUROPEAN RESPIRATORY JOURNAL

Ets homologous factor (EHF) has critical roles in epithelial dysfunction in airway disease

(2017) Sara L. Fossum et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pancreatic insufficiency in Cystic Fibrosis

(2017) Vikesh K. Singh et al.   Journal of Cystic Fibrosis

Cystic Fibrosis Revisited – a Review Study

(2017) Blanka Klimova et al.   Medicinal Chemistry

Comparison of FEV1 reference equations for evaluating a cystic fibrosis therapeutic intervention

(2017) Michael W. Konstan et al.   PEDIATRIC PULMONOLOGY

Common clinical features of CF (respiratory disease and exocrine pancreatic insufficiency)

(2017) Ranjani Somayaji et al.   PRESSE MEDICALE

In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis

(2017) Pascal Trouvé et al.   PLoS One

Cystic fibrosis: a clinical view

(2016) Carlo Castellani et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Current Understanding on Role of the Wnt Signaling Pathway Effector TCF7L2 in Glucose Homeostasis

(2016) Tianru Jin   ENDOCRINE REVIEWS

Cystic fibrosis gene modifierSLC26A9modulates airway response to CFTR-directed therapeutics

(2016) Lisa J. Strug et al.   HUMAN MOLECULAR GENETICS

Toll-Like Receptors in Cystic Fibrosis: Impact of Dysfunctional microRNA on Innate Immune Responses in the Cystic Fibrosis Lung

(2016) Sebastian F. Vencken et al.   Journal of Innate Immunity

The Impact of Secondhand Smoke Exposure on Children with Cystic Fibrosis: A Review

(2016) Benjamin Kopp et al.   International Journal of Environmental Research and Public Health

Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes

(2015) Wanda K. O’Neal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DCTN4 as a modifier of chronicPseudomonas aeruginosainfection in cystic fibrosis

(2015) Marion Viel et al.   Clinical Respiratory Journal

Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene

(2015) Annie Dupuis et al.   GENETICS IN MEDICINE

IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients

(2015) A. Baldan et al.   RHINOLOGY

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

(2015) Harriet Corvol et al.   Nature Communications

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

(2015) Mary J. Emond et al.   PLoS Genetics

Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells

(2015) Bruce A. Stanton et al.   PLoS One

HLA and asthma phenotypes/endotypes: A review

(2014) Eirini Kontakioti et al.   HUMAN IMMUNOLOGY

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

(2014) Pascale Fanen et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Lung disease modifier genes in cystic fibrosis

(2014) Loic Guillot et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The Tumor Necrosis Factor α (-308 A/G) Polymorphism Is Associated with Cystic Fibrosis in Mexican Patients

(2014) Celia N. Sanchez-Dominguez et al.   PLoS One

Genetic Modifiers of Cystic Fibrosis-Related Diabetes

(2013) S. M. Blackman et al.   DIABETES

Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

(2013) Weili Li et al.   HUMAN GENETICS

The Influence of Genetics on Cystic Fibrosis Phenotypes

(2013) M. R. Knowles et al.   Cold Spring Harbor Perspectives in Medicine

Genetic Influences on Cystic Fibrosis Lung Disease Severity

(2013) Colleen A. Weiler et al.   Frontiers in Pharmacology

A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect

(2013) Michael P Boyle et al.   Lancet Respiratory Medicine

Genetic modifiers of nutritional status in cystic fibrosis

(2012) Gia M Bradley et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Macrophage Migration Inhibitory Factor Enzymatic Activity, Lung Inflammation, and Cystic Fibrosis

(2012) Huzaifa Adamali et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Heritability of Respiratory Infection with Pseudomonas aeruginosa in Cystic Fibrosis

(2012) Deanna M. Green et al.   JOURNAL OF PEDIATRICS

Better Nutritional Status in Early Childhood Is Associated with Improved Clinical Outcomes and Survival in Patients with Cystic Fibrosis

(2012) Elizabeth H. Yen et al.   JOURNAL OF PEDIATRICS

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

(2012) Lei Sun et al.   NATURE GENETICS

AGER -429T/C Is Associated with an Increased Lung Disease Severity in Cystic Fibrosis

(2012) Julie Beucher et al.   PLoS One

Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosis

(2012) Fernando A L Marson et al.   BMC Pulmonary Medicine

Variation in MSRA Modifies Risk of Neonatal Intestinal Obstruction in Cystic Fibrosis

(2012) Lindsay B. Henderson et al.   PLoS Genetics

Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function

(2012) Dana B. Hancock et al.   PLoS Genetics

An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion

(2011) Frauke Stanke et al.   BMC Medical Genetics

Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation

(2011) Heike Labenski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients

(2011) Harriet Corvol et al.   Journal of Cystic Fibrosis

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

(2011) Fred A Wright et al.   NATURE GENETICS

A CommonMUC5BPromoter Polymorphism and Pulmonary Fibrosis

(2011) Max A. Seibold et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mucin Variable Number Tandem Repeat Polymorphisms and Severity of Cystic Fibrosis Lung Disease: Significant Association with MUC5AC

(2011) XueLiang Guo et al.   PLoS One

Modifier genes in Mendelian disorders: the example of cystic fibrosis

(2010) Garry R. Cutting   Annals of the New York Academy of Sciences

Impact of mannose-binding lectin insufficiency on the course of cystic fibrosis: A review and meta-analysis

(2010) J. D. Chalmers et al.   GLYCOBIOLOGY

TLR5 as an Anti-Inflammatory Target and Modifier Gene in Cystic Fibrosis

(2010) C. J. Blohmke et al.   JOURNAL OF IMMUNOLOGY

Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis

(2010) Ruslan Dorfman et al.   PEDIATRIC PULMONOLOGY

Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results

(2009) Ruslan Dorfman et al.   HUMAN GENETICS

Associação entre os polimorfismos dos genes MBL2, TGF-β1 e CD14 com a gravidade da doença pulmonar na fibrose cística

(2009) Elisangela Jacinto de Faria et al.   Jornal Brasileiro de Pneumologia

Genetic Modifiers Play a Substantial Role in Diabetes Complicating Cystic Fibrosis

(2009) Scott M. Blackman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IL1Bpolymorphisms modulate cystic fibrosis lung disease

(2009) Hara Levy et al.   PEDIATRIC PULMONOLOGY

Update on gene modifiers in cystic fibrosis

(2008) Joseph M Collaco et al.   CURRENT OPINION IN PULMONARY MEDICINE

TNFA -308G>A in two international population-based cohorts and risk of asthma

(2008) F. Castro-Giner et al.   EUROPEAN RESPIRATORY JOURNAL

Modulation of cystic fibrosis lung disease by variants in interleukin-8

(2008) A D Hillian et al.   GENES AND IMMUNITY

Association of interleukin-10 gene haplotypes with Pseudomonas aeruginosa airway colonization in cystic fibrosis

(2008) Riccardina Tesse et al.   Journal of Cystic Fibrosis

Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis

(2008) Harriet Corvol et al.   PEDIATRIC PULMONOLOGY

ENaCβ and γ genes as modifier genes in cystic fibrosis

(2007) Marion Viel et al.   Journal of Cystic Fibrosis