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Research

Expression Levels of Therapeutic Targets as Indicators of Sensitivity to Targeted Therapeutics

We investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets

Research

Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development

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The role and therapeutic implications of T cells in cancer of the lung

This review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies

Research

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs

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Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discovery

This review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response

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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

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C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

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Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli

We obtain a set of 57 candidate immediate early genes possessing promoters that consistently drive a rapid but transient increase in expression over time

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians

Traits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants