(Q36405307)

14 August 2017

Human SNPs resulting in premature stop codons and protein truncation (English)

1 reference

14 August 2017

Sevtap Savas

1

1 reference

14 August 2017

Sukru Tuzmen

series ordinal

2

1 reference

14 August 2017

Hilmi Ozcelik

series ordinal

3

1 reference

14 August 2017

1 March 2006

1 reference

14 August 2017

1 reference

14 August 2017

2

1 reference

14 August 2017

5

1 reference

14 August 2017

274-286

1 reference

Entrez Gene: gene-centered information at NCBI

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Pharmacogenomics: the influence of genomic variation on drug response

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Lipoprotein lipase and its role in regulation of plasma lipoproteins and cardiac risk

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Nonsense-mediated mRNA decay: terminating erroneous gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Database resources of the National Center for Biotechnology Information: update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

A Common Dominant TLR5 Stop Codon Polymorphism Abolishes Flagellin Signaling and Is Associated with Susceptibility to Legionnaires' Disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Sequence Divergence, Functional Constraint, and Selection in Protein Evolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

The application of molecular genetic approaches to the study of human evolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Near-neutrality in evolution of genes and gene regulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

SNP alleles in human disease and evolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Human non-synonymous SNPs: server and survey

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Balanced polymorphism selected by genetic versus infectious human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Human SNP variability and mutation rate are higher in regions of high recombination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Attenuated APC alleles produce functional protein from internal translation initiation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Accounting for human polymorphisms predicted to affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Killing the messenger: new insights into nonsense-mediated mRNA decay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Using genetic variation to study human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

SNPs, protein structure, and disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Prediction of deleterious human alleles

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

dbSNP: the NCBI database of genetic variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

RefSeq and LocusLink: NCBI gene-centered resources

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Single nucleotide polymorphisms as tools in human genetics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Nonsense-mediated mRNA decay in health and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Allelic variants of the human putative peptide transporter involved in antigen processing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Binary specification of nonsense codons by splicing and cytoplasmic translation

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

A GFP-based reporter system to monitor nonsense-mediated mRNA decay

28 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Sequence context at human single nucleotide polymorphisms: overrepresentation of CpG dinucleotide at polymorphic sites and suppression of variation in CpG islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Negative selection pressure against premature protein truncation is reduced by alternative splicing and diploidy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Identifying functional genetic variants in DNA repair pathway using protein conservation analysis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500177

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

21 September 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-5-274

Negligible validation rate for public domain stop-codon SNPs

21 January 2018

1 reference

12 December 2020

Population genetics--making sense out of sequence

1 reference

12 December 2020

Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms

1 reference

12 December 2020

Candidate nsSNPs that can affect the functions and interactions of cell cycle proteins

1 reference

12 December 2020

10.1186/1479-7364-2-5-274

Identifiers

DOI

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

16595072

1 reference