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Self-assembled peptide-poloxamine nanoparticles enable in vitro and in vivo genome restoration for cystic fibrosis

Nature nanotechnology, 2019-03, Vol.14 (3), p.287-297

2019

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Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B

Scientific reports, 2020-12, Vol.10 (1), p.22447-22447, Article 22447

2020

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Self-assembled peptide–poloxamine nanoparticles enable in vitro and in vivo genome restoration for cystic fibrosis

Nature nanotechnology, 2019-03, Vol.14 (3), p.287-297

2019

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An informative intragenic microsatellite marker suggests the IL-1 receptor as a genetic modifier in cystic fibrosis

The European respiratory journal, 2017-12, Vol.50 (6), p.1700426-1700426

2017

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Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy

Frontiers in pharmacology, 2023-01, Vol.14, p.1114584-1114584

2023

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The cystic fibrosis lower airways microbial metagenome

ERJ open research, 2016-04, Vol.2 (2), p.96

2016

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Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del- CFTR Homozygous Patient Populations

Genes, 2021-09, Vol.12 (10), p.1554

2021

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

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1281-1288

2011

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Intraclonal competitive fitness of longitudinal cystic fibrosis Pseudomonas aeruginosa airway isolates in liquid cultures

Environmental microbiology, 2020-07, Vol.22 (7), p.2536-2549

2020

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Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time

Human molecular genetics, 2023-01, Vol.32 (4), p.543-550

2023

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Impact of sample processing on human airways microbial metagenomes

Journal of biotechnology, 2017-05, Vol.250, p.51-55

2017

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Rescue from Pseudomonas aeruginosa Airway Infection via Stem Cell Transplantation

Molecular therapy, 2021-03, Vol.29 (3), p.1324-1334

2021

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The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.660-666

2014

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Nasal potential difference of carriers of the W493R ENaC variant with non-cystic fibrosis bronchiectasis

The European respiratory journal, 2016-01, Vol.47 (1), p.322-324

2016

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Mechanism of allele specific assembly and disruption of master regulator transcription factor complexes of NF- K Bp50, NF- K Bp65 and HIF1a on a non-coding FAS SNP

Biochimica et biophysica acta. Gene regulatory mechanisms, 2016-11, Vol.1859 (11), p.1411-1428

2016

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Mechanism of allele specific assembly and disruption of master regulator transcription factor complexes of NF-KBp50, NF-KBp65 and HIF1a on a non-coding FAS SNP

Biochimica et biophysica acta, 2016-11, Vol.1859 (11), p.1411-1428

2016

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Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins

Journal of cystic fibrosis, 2021-01, Vol.20 (1), p.149-153

2021

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The Cystic Fibrosis Upper and Lower Airway Metagenome

Microbiology spectrum, 2023-03, Vol.11 (2), p.e0363322-e0363322

2023

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CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.691-694

2013

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Effective prevention of Pseudomonas aeruginosa cross-infection at a cystic fibrosis centre – Results of a 10-year prospective study

International journal of medical microbiology, 2012-03, Vol.302 (2), p.69-77

2012

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Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.553-559

2010

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Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation

Journal of cystic fibrosis, 2012-01, Vol.11 (1), p.53-55

2012

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A regulatory SNP modifies cystic fibrosis by disrupting NFκB complex binding on FAS

Molecular and cellular pediatrics, 2015-07, Vol.2 (Suppl 1), p.A2

2015

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Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6

Human genetics, 2010-04, Vol.127 (4), p.383-394

2010

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Self-assembled peptide-poloxamine nanoparticles enable in vitro and in vivo genome restoration for cystic fibrosis

Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B

Self-assembled peptide–poloxamine nanoparticles enable in vitro and in vivo genome restoration for cystic fibrosis

An informative intragenic microsatellite marker suggests the IL-1 receptor as a genetic modifier in cystic fibrosis

Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy

The cystic fibrosis lower airways microbial metagenome

Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del- CFTR Homozygous Patient Populations

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

Intraclonal competitive fitness of longitudinal cystic fibrosis Pseudomonas aeruginosa airway isolates in liquid cultures

Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time

Impact of sample processing on human airways microbial metagenomes

Rescue from Pseudomonas aeruginosa Airway Infection via Stem Cell Transplantation

The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells

Nasal potential difference of carriers of the W493R ENaC variant with non-cystic fibrosis bronchiectasis

Mechanism of allele specific assembly and disruption of master regulator transcription factor complexes of NF- K Bp50, NF- K Bp65 and HIF1a on a non-coding FAS SNP

Mechanism of allele specific assembly and disruption of master regulator transcription factor complexes of NF-KBp50, NF-KBp65 and HIF1a on a non-coding FAS SNP

Immunotyping of clinically divergent p.Phe508del homozygous monozygous cystic fibrosis twins

The Cystic Fibrosis Upper and Lower Airway Metagenome

CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine

Effective prevention of Pseudomonas aeruginosa cross-infection at a cystic fibrosis centre – Results of a 10-year prospective study

Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34

Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation

A regulatory SNP modifies cystic fibrosis by disrupting NFκB complex binding on FAS

Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6

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