(Q42099157)

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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

scientific article published on May 2011

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease (English)

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

David N. Cooper

3

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Nadia Chuzhanova

object named as

Nadia Chuzhanova

4

0 references

author name string

Stephen E Hamby

1

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Nick S T Thomas

2

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

publication date

1 May 2011

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

5

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

4

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

241-264

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Different nuclease requirements for exosome-mediated degradation of normal and nonstop mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Transterm: a database to aid the analysis of regulatory sequences in mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

3' end mRNA processing: molecular mechanisms and implications for health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Messenger RNA surveillance systems monitoring proper translation termination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

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=3525242

29 May 2018

A genomic screen in yeast reveals novel aspects of nonstop mRNA metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Translation of nonSTOP mRNA is repressed post-initiation in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Comparison of characteristics and function of translation termination signals between and within prokaryotic and eukaryotic organisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Translation of aberrant mRNAs lacking a termination codon or with a shortened 3'-UTR is repressed after initiation in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Large-scale analysis of human alternative protein isoforms: pattern classification and correlation with subcellular localization signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

DAVID: Database for Annotation, Visualization, and Integrated Discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Exosome-mediated recognition and degradation of mRNAs lacking a termination codon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

An mRNA surveillance mechanism that eliminates transcripts lacking termination codons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Impact of the six nucleotides downstream of the stop codon on translation termination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Translational termination efficiency in mammals is influenced by the base following the stop codon.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

29 May 2018

Comparative analysis of base biases around the stop codons in six eukaryotes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

17 August 2018

Comprehensive sequence analysis of translation termination sites in various eukaryotes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525242

17 August 2018

A Novel Nonstop Mutation in the Stop Codon and a Novel Missense Mutation in the Type II 3 -Hydroxysteroid Dehydrogenase (3 -HSD) Gene Causing, Respectively, Nonclassic and Classic 3 -HSD Deficiency Congenital Adrenal Hyperplasia

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-5-4-241

21 January 2018

Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712188

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712188

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-7364-5-4-241

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

ResearchGate publication ID

0 references

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