(Q52607316)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29617666%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

Systematic Analysis of Splice-Site-Creating Mutations in Cancer (English)

1 reference

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22 March 2020

author

Héctor Climente-González

8

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22 March 2020

Rajees Varghese

11

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22 March 2020

Eduardo Eyras

23

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22 March 2020

0 references

19

Jeffrey H Miner

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22 March 2020

author name string

Reyka G Jayasinghe

1

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22 March 2020

Song Cao

2

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22 March 2020

Qingsong Gao

3

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22 March 2020

Michael C Wendl

4

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22 March 2020

Nam Sy Vo

5

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22 March 2020

Sheila M Reynolds

6

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22 March 2020

Yanyan Zhao

7

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22 March 2020

Shengjie Chai

9

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22 March 2020

Fang Wang

10

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22 March 2020

Mo Huang

12

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22 March 2020

Wen-Wei Liang

13

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22 March 2020

Matthew A Wyczalkowski

14

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22 March 2020

Sohini Sengupta

15

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22 March 2020

Zhi Li

16

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22 March 2020

Samuel H Payne

17

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22 March 2020

David Fenyö

18

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22 March 2020

Matthew J Walter

20

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22 March 2020

Benjamin Vincent

22

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22 March 2020

Ken Chen

24

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22 March 2020

Feng Chen

26

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22 March 2020

Li Ding

27

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22 March 2020

Cancer Genome Atlas Research Network

21

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22 March 2020

Ilya Shmulevich

25

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22 March 2020

publication date

1 April 2018

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22 March 2020

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22 March 2020

volume

23

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22 March 2020

issue

1

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22 March 2020

page(s)

270-281.e3

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Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II

22 March 2020

cites work

1 reference

12 December 2020

Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations

1 reference

12 December 2020

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

1 reference

12 December 2020

Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.

1 reference

12 December 2020

A second leaky splice-site mutation in the spastin gene

1 reference

12 December 2020

IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer.

1 reference

12 December 2020

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

12 December 2020

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model

1 reference

12 December 2020

Retinoblastoma: revisiting the model prototype of inherited cancer

1 reference

12 December 2020

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

12 December 2020

Aberrant and alternative splicing in cancer

1 reference

12 December 2020

A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors

1 reference

12 December 2020

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

1 reference

12 December 2020

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

1 reference

12 December 2020

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

1 reference

12 December 2020

The Sequence Alignment/Map format and SAMtools

1 reference

12 December 2020

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

1 reference

12 December 2020

Genomic features defining exonic variants that modulate splicing

1 reference

12 December 2020

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

1 reference

12 December 2020

Integrative genomics viewer

1 reference

12 December 2020

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

1 reference

12 December 2020

Understanding the contribution of synonymous mutations to human disease

1 reference

12 December 2020

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing

1 reference

12 December 2020

Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders

1 reference

12 December 2020

BAP1 loss defines a new class of renal cell carcinoma

1 reference

12 December 2020

MuSiC: identifying mutational significance in cancer genomes

1 reference

12 December 2020

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

1 reference

12 December 2020

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

1 reference

12 December 2020

Mutational heterogeneity in cancer and the search for new cancer-associated genes

1 reference

12 December 2020

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

1 reference

12 December 2020

Mutational landscape and significance across 12 major cancer types

1 reference

12 December 2020

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

1 reference

12 December 2020

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

1 reference

12 December 2020

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

1 reference

12 December 2020

Novel mutations of the PARP-1 gene associated with colorectal cancer in the Saudi population

1 reference

12 December 2020

U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing

1 reference

12 December 2020

In silico prediction of splice-altering single nucleotide variants in the human genome

1 reference

12 December 2020

SMARCE1 suppresses EGFR expression and controls responses to MET and ALK inhibitors in lung cancer

1 reference

12 December 2020

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

1 reference

12 December 2020

Cancer immunotherapy. A dendritic cell vaccine increases the breadth and diversity of melanoma neoantigen-specific T cells

1 reference

12 December 2020

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

1 reference

12 December 2020

Timeless Interacts with PARP-1 to Promote Homologous Recombination Repair

1 reference

12 December 2020

Intron retention is a widespread mechanism of tumor-suppressor inactivation.

1 reference

12 December 2020

PARP1 Inhibitors: antitumor drug design

1 reference

12 December 2020

Gapped sequence alignment using artificial neural networks: application to the MHC class I system.

1 reference

12 December 2020

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

1 reference

12 December 2020

SplAdder: identification, quantification and testing of alternative splicing events from RNA-Seq data

1 reference

12 December 2020

ATRX loss promotes tumor growth and impairs nonhomologous end joining DNA repair in glioma

1 reference

12 December 2020

NetMHCpan-3.0; improved prediction of binding to MHC class I molecules integrating information from multiple receptor and peptide length datasets

1 reference

12 December 2020

Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks

1 reference

12 December 2020

Proteogenomics connects somatic mutations to signalling in breast cancer

1 reference

12 December 2020

Protein-structure-guided discovery of functional mutations across 19 cancer types

1 reference

12 December 2020

Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

1 reference

12 December 2020

Pathogenic variants that alter protein code often disrupt splicing.

1 reference

12 December 2020

Insertion-and-deletion-derived tumour-specific neoantigens and the immunogenic phenotype: a pan-cancer analysis

1 reference

12 December 2020

10.1016/J.CELREP.2018.03.052

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29617666%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29617666%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference