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Article
Open AccessPDX models of human lung squamous cell carcinoma: consideration of factors in preclinical and co-clinical applications
Treatment of human lung squamous cell carcinoma (LUSC) using current targeted therapies is limited because of their diverse somatic mutations without any specific dominant driver mutations. These mutational di...
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Article
Open AccessThe genome of Diuraphis noxia, a global aphid pest of small grains
The Russian wheat aphid, Diuraphis noxia Kurdjumov, is one of the most important pests of small grains throughout the temperate regions of the world. This phytotoxic aphid causes severe systemic damage symptoms i...
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Article
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
Deep sequencing identifies somatic activating mutations of MTOR in affected brain regions of FCDII patients that are sufficient to cause neuronal migration defects and epileptic seizures in mice.
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Article
Open AccessAn epigenomic roadmap to induced pluripotency reveals DNA methylation as a reprogramming modulator
Reprogramming of somatic cells to induced pluripotent stem cells involves a dynamic rearrangement of the epigenetic landscape. To characterize this epigenomic roadmap, we have performed MethylC-seq, ChIP-seq (...
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Article
Open AccessTargeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis
Although it has been suggested that rare coding variants could explain the substantial missing heritability, very few sequencing studies have been performed in rheumatoid arthritis (RA). We aimed to identify n...
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Article
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height
Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants that influence stature, we sequenced whole exomes of four children with idiopathic short stature. Ninety-five...
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Article
Open AccessA simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry
We describe the development of a novel matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF)-based single nucleotide polymorphism (SNP) scoring strategy, termed Restriction Fragment Mass Polym...
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Article
Open AccessPADB : Published Association Database
Although molecular pathway information and the International HapMap Project data can help biomedical researchers to investigate the aetiology of complex diseases more effectively, such information is missing o...
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Article
Correlation of KIT and platelet-derived growth factor receptor α mutations with gene activation and expression profiles in gastrointestinal stromal tumors
Activating mutations of KIT and platelet-derived growth factor receptor α (PDGFRA) are known to be alternative and mutually exclusive genetic events in the development of gastrointestinal stromal tumors (GISTs). ...
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Article
Different gene expression profiles between microsatellite instability-high and microsatellite stable colorectal carcinomas
Recent molecular genetic studies have revealed that two major types of genomic instabilities, chromosomal instability (CIN) and microsatellite instability (MSI), exist in colorectal carcinomas. In order to cla...
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Article
Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability
Somatic frameshift mutations in some genes containing coding mononucleotide repeats (cMNRs) are well known characteristics of tumors with high microsatellite instability (MSI-H). We identified 22 novel and 11 ...
