Publications by authors named "B E Dale"
Article Synopsis
- Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in the TSC1 and TSC2 genes, leading to benign tumors and associated neuropsychiatric disorders and epilepsy, with TSC2 mutations usually resulting in more severe symptoms.
- A study was conducted on a 13-year-old patient and three family members with a specific TSC2 variant (R905Q), revealing a range of symptoms from severe epilepsy to mild dermatological features, highlighting the variant's unusual milder effects in some cases.
- The findings suggest the need for genetic testing in individuals with severe epilepsy, as the TSC2 R905Q variant can present without typical neurological signs, and it also underscores the significance of
The histone acylation reader eleven-nineteen leukemia (ENL) plays a pivotal role in sustaining oncogenesis in acute leukemias, particularly in -rearranged (-r) leukemia. ENL relies on its reader domain to recognize histone lysine acylation promoting oncogenic gene expression and leukemia progression. Here, we report the development of MS41, a highly potent and selective von Hippel-Lindau-recruiting ENL degrader that effectively inhibits the growth of ENL-dependent leukemia cells.
View Article and Find Full Text PDFThis study tested the assumption that the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) functions similarly for boys and girls and for four age groups. The Bayley-4 American norming sample of 1,700 children ages 0-42 months (3.5 years) was used, which included 50% boys and girls.
View Article and Find Full Text PDFBackground: Cholangiocarcinoma (CCA) features highly desmoplastic stroma that promotes structural and functional resistance to therapy. Lysyl oxidases (LOX, LOXL1-4) catalyze collagen cross-linking, thereby increasing stromal rigidity and facilitating therapeutic resistance. Here, we evaluate the role of lysyl oxidases in stromal desmoplasia and the effects of pan-lysyl oxidase (pan-LOX) inhibition in CCA.
View Article and Find Full Text PDFHLA matching in solid organ transplant is performed with the aim of assessing immunologic compatibility in order to avoid hyperacute rejection and assess the risk of future rejection events. Molecular mismatch algorithms are intended to improve granularity in histocompatibility assessment and risk stratification. PIRCHE-II uses HLA genotyping to predict indirectly presented mismatched donor HLA peptides, though most clinical validation studies rely on imputing high resolution (HR) genotypes from low resolution (LR) typing data.
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