Nonsense mutations in the human beta-globin gene affect mRNA metabolism (Q33562164)

28 July 2017

Nonsense mutations in the human beta-globin gene affect mRNA metabolism (English)

1 reference

post-transcriptional modification

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353367

30 December 2022

1

S. J. Baserga

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353367

30 December 2022

author name string

Benz EJ Jr

series ordinal

2

1 reference

28 July 2017

E. J. Benz

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353367

30 December 2022

language of work or name

English

0 references

publication date

1 April 1988

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC279927

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353367

https://europepmc.org/articles/PMC279927?pdf=render

30 December 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3353367

https://pnas.org/doi/pdf/10.1073/pnas.85.7.2056

30 December 2022

1 reference

Crossref

DOI

10.1073/PNAS.85.7.2056

https://api.crossref.org/works/10.1073/PNAS.85.7.2056

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

30 December 2022

published in

1 reference

28 July 2017

85

1 reference

28 July 2017

7

1 reference

28 July 2017

2056-2060

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

beta zero thalassemia in Sardinia is caused by a nonsense mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

2 New M13 vectors for cloning

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Two cloned β thalassemia genes are associated with amber mutations at codon 39

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Structure and expression of a cloned beta o thalassaemic globin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

A new technique for the assay of infectivity of human adenovirus 5 DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Rapid and efficient site-specific mutagenesis without phenotypic selection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Variability in the amount of beta-globin mRNA in beta0 thalassemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Control of Transcription Termination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

DNA sequencing with chain-terminating inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

beta 0 thalassemia, a nonsense mutation in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

A new nonsense mutation as the molecular basis for beta thalassaemia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279927

Hb Vaasa or alpha2beta2 (39(C5)Gln replaced by Glu), a mildly unstable variant found in a Finnish family

31 October 2018

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

32 Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

1 reference

12 December 2020

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

1 reference

12 December 2020

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1 reference

12 December 2020

Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family

1 reference

12 December 2020

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

12 December 2020

Translation is required for regulation of histone mRNA degradation

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.85.7.2056

1 reference

28 July 2017

0 references

1 reference

28 July 2017

1 reference