Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. - Wikidata - wikimedia - TriplyDB

Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.

Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.

http://www.wikidata.org/entity/Q34268532

about

Reawakening retrocyclins: ancestral human defensins active against HIV-1 Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis Potentiators (specific therapies for class III and IV mutations) for cystic fibrosis Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathy Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.New developments in aminoglycoside therapy and ototoxicity Chloride channels as drug targets.Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals New and emerging targeted therapies for cystic fibrosis Orphan diseases of the nose and paranasal sinuses: Pathogenesis - clinic - therapy Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals Therapeutic suppression of premature termination codons: mechanisms and clinical considerations (review)Early pulmonary inflammation and lung damage in children with cystic fibrosis A synthetic chloride channel restores chloride conductance in human cystic fibrosis epithelial cells Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation Organizing principles of mammalian nonsense-mediated mRNA decay A novel use of gentamicin in the ROS-mediated sensitization of NCI-H460 lung cancer cells to various anticancer agents Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression Novel small molecules potentiate premature termination codon readthrough by aminoglycosides Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study The unfolded protein response affects readthrough of premature termination codons Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.New horizons in the treatment of cystic fibrosis.Synthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftor Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay.Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers.Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator

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P2860

Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.

http://www.wikidata.org/entity/Q34268532

description

2003 nî lūn-bûn

@nan

2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@ast

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@en

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@nl

type

label

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@ast

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@en

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@nl

prefLabel

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@ast

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@en

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@nl

P1433

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P356

P1433

The New England Journal of Medicine

P1476

Gentamicin-induced correction ...... rosis and CFTR stop mutations.

@en

P2093

Batsheva Kerem

http://www.w3.org/2001/XMLSchema#string

Eitan Kerem

http://www.w3.org/2001/XMLSchema#string

Hannah Blau

http://www.w3.org/2001/XMLSchema#string

Joseph Rivlin

http://www.w3.org/2001/XMLSchema#string

Lea Bentur

http://www.w3.org/2001/XMLSchema#string

Liat Shushi

http://www.w3.org/2001/XMLSchema#string

Micha Aviram

http://www.w3.org/2001/XMLSchema#string

Michael Wilschanski

http://www.w3.org/2001/XMLSchema#string

Tali Bdolah-Abram

http://www.w3.org/2001/XMLSchema#string

Yaacov Yahav

http://www.w3.org/2001/XMLSchema#string

P304

1433-1441

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scholarly article

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10.1056/NEJMOA022170

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P433

15

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P478

349

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2003-10-01T00:00:00Z

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P698

14534336

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P921

cystic fibrosis