Publications by authors named "Miya John"
Purpose: To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In the era of big data, self-reported ratings have great potential utility for large-scale data collection, where cost and time preclude in-depth assessment by a clinician. Equally, there is increasing emphasis on the need to recognize an individual's experience of their own condition.
View Article and Find Full Text PDFROR1/2 are putative druggable targets increasing in significance in translational oncology. Expression of ROR1/2 mRNA and transcript variants has not been systematically examined thus far. ROR1/2 transcript variant sequences, signal peptides for cell surface localisation, and mRNA and transcript variant expression were examined in 34 transcriptomic datasets including 33 cancer types and 54 non-diseased human tissues.
View Article and Find Full Text PDFArticle Synopsis
- The study focuses on "episignatures," which are unique DNA methylation patterns used as biomarkers for diagnosing various genetic syndromes, particularly neurodevelopmental disorders.
- Researchers analyzed DNA methylation changes in 65 genetic syndromes, identifying specific differentially methylated probes (DMPs) and regions (DMRs) associated with these conditions.
- Findings indicated that DMPs and DMRs were mostly located in gene promoters and pathways related to neurodevelopment, highlighting a connection between gene mutations and altered DNA methylation profiles in these disorders.
Purpose Language difficulties are prevalent among children born preterm. Existing studies have largely used standardized language tests, providing limited scope for detailed descriptive examination of preterm language. This study aimed to examine differences in conversational language between children born < 30 weeks and at term as well as correlations between language sample analysis (LSA) and a standardized language tool.
View Article and Find Full Text PDFBackground & Aims: Irisin, the cleaved extra-cellular fragment of the Fibronectin type III domain-containing protein 5 (FNDC5) is a myokine that is proposed to have favorable metabolic activity. We aimed to elucidate the currently undefined role of variants in the FNDC5 gene in non-alcoholic fatty liver disease (NAFLD).
Methods: We prioritized single nucleotide polymorphisms in FNDC5 on the basis of their putative biological function and identified rs3480 in the 3' untranslated region (3'UTR).