Publications by authors named "T S Barakat"
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.
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- The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
- A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
- This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
Background: This study aims to synthesise recent findings on the outcomes of common femoral endarterectomy (CFE) with profundoplasty, evaluating the efficacy, complications, and predictors of long-term success in patients undergoing this procedure.
Patients And Methods: This is a descriptive retrospective study assessing the outcomes of CFE with profundoplasty. All patients with chronic limb-threatening ischaemia (CLTI) who attended and underwent CFE with profundoplasty with or without iliac intervention at Glan Clwyd Hospital (Wales, United Kingdom) were studied.
Background And Aims: The enteric nervous system (ENS), comprised of neurons and glia, regulates intestinal motility. Hirschsprung disease (HSCR) results from defects in ENS formation, yet while neuronal aspects have been extensively studied, enteric glia remain disregarded. This study aimed to explore enteric glia diversity in health and disease.
View Article and Find Full Text PDFIndividuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.
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