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A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinomaIn this study, we report the case of an adolescent NMC patient presenting with severe facial pain, proptosis and visual impairment due to a mass arising from...
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GFP-complementation assay to detect functional CPP and protein delivery into living cells.Efficient cargo uptake is essential for cell-penetrating peptide (CPP) therapeutics, which deliver widely diverse cargoes by exploiting natural cell...
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Focused transcription from the human CR2/CD21 core promoter is regulated by synergistic activity of TATA and Initiator elements in mature B cellsMature B cells, CR2/CD21 transcription proceeds from a focused TSS regulated by a non-consensus TATA box, an initiator element and downstream promoter element
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A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndromeThe aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
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Novel peptide-based drugs for the treatment of sonic hedgehog-dependent medulloblastomaMedulloblastoma, the most common pediatric malignant brain tumor, consists of at least four distinct molecular subgroups.
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Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort studyMothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.
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Environmental health challenges in remote Aboriginal Australian communities: clean air, clean water and safe housingA considerable health disparity exists between Aboriginal and non-Aboriginal Australians, including a higher incidence and severity of cardiovascular and...
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Childhood behavior problems and age at first sexual intercourse: A prospective birth cohort studyEarly first sexual intercourse (FSI) is a risk factor for unplanned abstract teenage pregnancy, sexually transmitted infection, and adverse social, emotional...
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Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cellsOur data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during...
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Genetic and environmental factors in the aetiology of hypospadiasThe increasing use of assisted reproductive techniques and hormonal manipulation during pregnancy may have been associated with an apparent rise in the...