"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA. (Q37609361)

21 August 2017

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA. (English)

1 reference

21 August 2017

Goldsmith ME

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21 August 2017

Humphries RK

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21 August 2017

Ley T

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21 August 2017

Cline A

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21 August 2017

Kantor JA

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21 August 2017

Nienhuis AW

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21 August 2017

language of work or name

English

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publication date

1 April 1983

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Proceedings of the National Academy of Sciences of the United States of America

21 August 2017

1 reference

21 August 2017

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21 August 2017

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21 August 2017

2318-2322

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Are snRNPs involved in splicing?

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Posttranscriptional defects in beta-globin messenger RNA metabolism in beta-thalassemia: abnormal accumulation of beta-messenger RNA precursor sequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

A catalogue of splice junction sequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

RNA processing errors in patients with beta-thalassemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

beta zero thalassemia in Sardinia is caused by a nonsense mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Five nucleotide changes in the large intervening sequence of a β globin gene in a β+thalassemia patient

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Expression of a β-globin gene is enhanced by remote SV40 DNA sequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Nonrandom association of polymorphic restriction sites in the β-globin gene cluster

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Structure and expression of a cloned beta o thalassaemic globin gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

An intron nucleotide sequence variant in a cloned β+-thalassaemia globin gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

SV40-transformed simian cells support the replication of early SV40 mutants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

A system for shotgun DNA sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Construction and analysis of simian virus 40 origins defective in tumor antigen binding and DNA replication

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

A mechanism for RNA splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Hemoglobin switching in sheep. Isolation of the fetal gamma-globin gene and demonstration that the fetal gamma- and adult beta A-globin genes lie within eight kilobase segments of homologous DNA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

The isolation of structural genes from libraries of eucaryotic DNA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Restriction endonuclease mapping of the human γ globin gene loci

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

DNA sequencing with chain-terminating inhibitors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

A new method for sequencing DNA

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

beta 0 thalassemia, a nonsense mutation in man

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Relative stability of alpha- and beta-globin messenger RNAs in homozygous beta+ thalassemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

23 August 2017

Thalassemia Revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

The structure of the human β-globin gene in β-thalassaemia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Mapping of RNA by a modification of the Berk-Sharp procedure: the 5′ termini of 15 S β-globin mRNA precursor and mature 10 S β-globin mRNA have identical map coordinates

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

A new nonsense mutation as the molecular basis for beta thalassaemia

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

The nucleotide sequence of the human β-globin gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=393811

Hemoglobin switching in sheep. Cloning and characterization of the beta A and beta-like embryonic globin genes from genomic DNA

1 September 2018

1 reference

12 December 2020

Beta Thalassemia: mutations which affect processing of the beta-Globin mRNA precursor

1 reference

12 December 2020

Inhibition of SV40 replication in simian cells by specific pBR322 DNA sequences

1 reference

12 December 2020

Identification of DNA sequences required for transcription of the human α1-globin gene in a new SV40 host-vector system

1 reference

12 December 2020

Abnormally spliced messenger RNA in erythroid cells from patients with β+ thalassemia and monkey cells expressing a cloned β+-thalassemic gene

1 reference

12 December 2020

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box

1 reference

12 December 2020

Differences in human α-, β- and δ-globin gene expression in monkey kidney cells

1 reference

12 December 2020

Abnormal RNA processing due to the exon mutation of βE-globin gene

1 reference

12 December 2020

Abnormal RNA splicing causes one form of alpha thalassemia

1 reference

12 December 2020

Unstable β-globin mRNA in mRNA-deficient β0 thalassemia

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.80.8.2318

1 reference

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

6572978

1 reference