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Integrative CAGE and DNA Methylation Profiling Identify Epigenetically Regulated Genes in NSCLCEpigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.
Research
Transcriptome Analysis Uncovers a Growth-Promoting Activity of Orosomucoid-1 on HepatocytesOrm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Elucidating the interaction of CF airway epithelial cells and rhinovirus: Using the host-pathogen relationship to identify future therapeutic strategiesA better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF
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Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinPresent a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL
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DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic EndotheliumVEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...
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Functional annotation of the vlinc class of non-coding RNAs using systems biology approachWe show that vlincRNAs genes likely function in cis to activate nearby genes
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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytesImmune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.
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Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian InfantsComplementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants.