Publications by authors named "Elise Boudry"
In this report, we developed a unified and standardized one-pot sequence that converts pyridine derivatives into 1,2-diazepines by inserting a nitrogen atom. This skeletal transformation capitalizes on the generation of 1-aminopyridinium ylides, which rearrange under UV light irradiation. A thorough evaluation of the key parameters (wavelength, reaction conditions, activating agent) allowed us to elaborate on a simple, mild, and user-friendly protocol.
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- - Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a serious birth defect often linked with other abnormalities, but genetic testing only confirms a diagnosis in a small percentage of cases.
- - In a study involving 67 patients, only 11 (16%) received a definitive or probable genetic diagnosis, indicating that the reasons behind EA/TEF may be more complex and involve multiple genetic and environmental factors.
- - The research identified specific genetic variants related to certain genes (like TCF4 and FANCA) that may contribute to the EA/TEF conditions, providing new insights into its development.
Article Synopsis
- BRD4 is crucial for loading the cohesin complex onto DNA, which is essential for processes like loop extrusion and the formation of Topologically Associating Domains, and mutations in this complex can lead to conditions known as cohesinopathies, including Cornelia de Lange syndrome.
- An international study was conducted to analyze clinical and genetic data from 14 new patients with BRD4-related disorders, including two fetuses, combining prenatal findings with information from pediatric and adult cases.
- The study identifies distinct dysmorphic features associated with BRD4-related disorders and expands the understanding of cohesinopathies, providing a new pattern that differs from existing classifications.