(Q36611332)

English

Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients

scientific article published on November 2009

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scholarly article

1 reference

Europe PubMed Central

15 August 2017

Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients (English)

1 reference

Europe PubMed Central

15 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

object named as

Laura Breda

12

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Cristina Zuccato

object named as

Cristina Zuccato

3

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Ilaria Lampronti

object named as

Ilaria Lampronti

11

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Alessia Finotti

object named as

Alessia Finotti

4

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Stefano Rivella

object named as

Stefano Rivella

13

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Nicoletta Bianchi

object named as

Nicoletta Bianchi

5

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Monica Borgatti

object named as

Monica Borgatti

6

0 references

Roberto Gambari

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Roberto Gambari

14

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Federica Destro

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Federica Destro

8

0 references

Francesca Salvatori

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Francesca Salvatori

1

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Eleonora Brognara

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Eleonora Brognara

10

0 references

Giordana Feriotto

7

object named as

Giordana Feriotto

1 reference

Europe PubMed Central

15 August 2017

Giulia Breveglieri

2

object named as

Giulia Breveglieri

1 reference

Europe PubMed Central

15 August 2017

Alessandro Canella

9

object named as

Alessandro Canella

1 reference

Europe PubMed Central

15 August 2017

publication date

1 November 2009

1 reference

Europe PubMed Central

15 August 2017

American Journal of Hematology

1 reference

Europe PubMed Central

15 August 2017

84

1 reference

Europe PubMed Central

15 August 2017

11

1 reference

Europe PubMed Central

15 August 2017

720-728

1 reference

Europe PubMed Central

15 August 2017

Fetal Hemoglobin Inducers from the Natural World: A Novel Approach for Identification of Drugs for the Treatment of {beta}-Thalassemia and Sickle-Cell Anemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

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The meaning of nonsense

1 reference

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A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay

1 reference

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Hypoxic inhibition of nonsense-mediated RNA decay regulates gene expression and the integrated stress response

1 reference

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PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

1 reference

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Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases

1 reference

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30 September 2017

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Medicinal chemistry of fetal hemoglobin inducers for treatment of beta-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Aminoglycoside-induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Stop-codon read-through for patients affected by a lysosomal storage disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

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30 September 2017

Translational readthrough induction of pathogenic nonsense mutations

1 reference

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30 September 2017

Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII.

1 reference

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Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

1 reference

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30 September 2017

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Readthrough of dystrophin stop codon mutations induced by aminoglycosides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Pathophysiology of thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Pathophysiology of thalassaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

beta zero thalassemia in Sardinia is caused by a nonsense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

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30 September 2017

A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells

1 reference

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Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

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Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

30 September 2017

Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

28 June 2018

Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

A meta-analysis of nonsense mutations causing human genetic disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Response to hydroxyurea therapy in beta-thalassemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Everolimus is a potent inducer of erythroid differentiation and gamma-globin gene expression in human erythroid cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Effects of rapamycin on accumulation of alpha-, beta- and gamma-globin mRNAs in erythroid precursor cells from beta-thalassaemia patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop]).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Aminoglycoside suppression of nonsense mutations in severe hemophilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Successful correction of the human beta-thalassemia major phenotype using a lentiviral vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Accumulation of gamma-globin mRNA in human erythroid cells treated with angelicin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Hydroxyurea increases fetal hemoglobin in cultured erythroid cells derived from normal individuals and patients with sickle cell anemia or beta-thalassemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

20 September 2018

Detection of a Rare β-Globin Nonsense Mutation [Codon 59 (AAG→TAG)] in an Italian Family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

4 December 2018

Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3572903

4 December 2018

Beta-thalassemia due to a novel nonsense mutation at codon 37 (TGG-->TAG) found in an Afghanistani family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proliferation and maturation of human erythroid progenitors in liquid culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-phase liquid culture system models normal human adult erythropoiesis at the molecular level

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Separation of hemoglobins and hemoglobin chains by high-performance liquid chromatography

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow transplantation in adult thalassemic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19810011

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJH.21539

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

1 reference

Europe PubMed Central

15 August 2017

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