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Research
The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.
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House dust mite induced lung inflammation does not alter circulating vitamin D levelsWe hypothesized that allergic inflammation decreases the level of circulating 25(OH)D and tested this using a mice model of house dust mite (HDM) induced...
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No population bias to left-hemisphere language in 4-year-olds with language impairmentAn apparent paradox in the field of neuropsychology is that people with atypical cerebral lateralization do not appear to suffer any cognitive disadvantage,...
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Community participation: Conversations with parent-Carers of young women with Rett syndromeIn this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
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Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early responseThe immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers.
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Phenotypic, functional, and plasticity features of classical and alternatively activated human macrophagesHuman peripheral blood monocytes were differentiated into uncommitted macrophages (M0) and then polarized to M1 and M2 phenotypes using LPS/IFN-gamma...
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Adult digit ratio (2D:4D) is not related to umbilical cord androgen or estrogen concentrations, their ratios or net bioactivityRatio of second digit length to fourth digit length (2D:4D) has been extensively used in human and experimental research as a marker of fetal sex steroid...