Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3 (Q30420265)

18 October 2017

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3 (English)

1 reference

18 October 2017

1 reference

Marcel Martin

1

0 references

Ludger Klein-Hitpass

8

object named as

Ludger Klein-Hitpass

1 reference

18 October 2017

Lars Maßhöfer

2

1 reference

18 October 2017

Petra Temming

3

1 reference

18 October 2017

Sven Rahmann

4

1 reference

18 October 2017

Claudia Metz

5

1 reference

18 October 2017

Norbert Bornfeld

6

1 reference

18 October 2017

Johannes van de Nes

7

1 reference

18 October 2017

Alan G Hinnebusch

9

1 reference

18 October 2017

Bernhard Horsthemke

10

1 reference

18 October 2017

Dietmar R Lohmann

11

1 reference

18 October 2017

Michael Zeschnigk

12

1 reference

18 October 2017

language of work or name

English

0 references

publication date

23 June 2013

1 reference

18 October 2017

1 reference

18 October 2017

45

1 reference

18 October 2017

8

1 reference

18 October 2017

933-936

1 reference

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Eukaryotic initiation factor 2 phosphorylation and translational control in metabolism.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Ribosome profiling of mouse embryonic stem cells reveals the complexity and dynamics of mammalian proteomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Frequent pathway mutations of splicing machinery in myelodysplasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Modernizing reference genome assemblies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Frequency, molecular pathology and potential clinical significance of partial chromosome 3 aberrations in uveal melanoma.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Mutations in GNA11 in uveal melanoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Frequent mutation of BAP1 in metastasizing uveal melanomas

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

The Catalogue of Somatic Mutations in Cancer (COSMIC)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

N- and C-terminal residues of eIF1A have opposing effects on the fidelity of start codon selection

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

The eIF1A C-terminal domain promotes initiation complex assembly, scanning and AUG selection in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Translational regulation of GCN4 and the general amino acid control of yeast

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Gene expression profiling in uveal melanoma reveals two molecular classes and predicts metastatic death

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Domains of eIF1A that mediate binding to eIF2, eIF3 and eIF5B and promote ternary complex recruitment in vivo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

The eIF1A solution structure reveals a large RNA-binding surface important for scanning function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Prognostic implications of monosomy 3 in uveal melanoma

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Uveal melanoma: location, size, cell type, and enucleation as risk factors in metastasis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification.

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2674

Biochemical characterization of mammalian translation initiation factor 3 (eIF3). Molecular cloning reveals that p110 subunit is the mammalian homologue of Saccharomyces cerevisiae protein Prt1

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2674

Communication between eukaryotic translation initiation factors 1 and 1A on the yeast small ribosomal subunit

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2674

Function of eukaryotic translation initiation factor 1A (eIF1A) (formerly called eIF-4C) in initiation of protein synthesis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307600

Spliceosome mutations in hematopoietic malignancies

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23793026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of chromosomes 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23793026

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2674

1 reference

18 October 2017

1 reference

18 October 2017

1 reference