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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Ovulation induction and subfertile untreated conception groups offer improved options for interpreting risks associated with ART

To identify and characterise appropriate comparison groups for population studies of health outcomes in ART-conceived births: ovulation induction (OI), subfertile untreated and fertile natural conceptions. Our secondary objective was to examine whether known risks of pregnancy complications and adverse birth outcomes in ART births are elevated in comparison with subfertile (untreated and OI) conception groups.

Community knowledge, attitude, practices and beliefs associated with persistence of malaria transmission in North-western and Southern regions of Tanzania

Despite significant decline in the past two decades, malaria is still a major public health concern in Tanzania; with over 93% of the population still at risk. Community knowledge, attitudes and practices, and beliefs are key in enhancing uptake and utilization of malaria control interventions, but there is a lack of information on their contribution to effective control of the disease.

Discovery of Transcription Factors Novel to Mouse Cerebellar Granule Cell Development Through Laser-Capture Microdissection

This study provides an initial insight into the TFs of cerebellar granule cells that might be important for development

Data Descriptor: Monitoring transcription initiation activities in rat and dog

The promoter landscape of several non-human model organisms is far from complete

Linking FANTOM5 CAGE peaks to annotations with CAGEscan

Here, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources

An integrated expression atlas of miRNAs and their promoters in human and mouse

We provided a broad atlas of miRNA expression and promoters in primary mammalian cells, establishing a foundation for detailed analysis of miRNA.

On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBase

SlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues

Secondary preventive medication use in a prevalent population-based cohort of acute coronary syndrome survivors

Longer time since last acute coronary syndrome admission was associated with dispensing fewer medications types and combinations in 2008

Rhinovirus species and clinical features in children hospitalised with pneumonia from Mozambique

The prevalence of human rhinovirus (RV) species in children hospitalised with pneumonia in Manhiça, Mozambique