Publications by authors named "J Hatton"
Modular C-N coupling is a desirable way to construct -aryl carbamates, which are privileged scaffolds in active pharmaceutical ingredients. However, there are no broadly applicable metal-free methods for the-arylation of carbamates. Herein, we describe a metal-free approach that uses aryl(TMP)iodonium salts as arylation reagents for cyclic carbamates by exploiting the metal-like reactivity of iodine(III).
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- * A study analyzed the locations of 160 sarcomas found in individuals with LFS and discovered that abdominal sarcomas and extremity osteosarcomas were the most common, with no significant differences based on age or sex.
- * The findings indicate that while sarcomas in LFS often appear in typical areas, they can also occur in unusual locations, complicating diagnosis through imaging; ongoing research will improve guidance for screening and interpretation of scans for LFS patients.
Article Synopsis
- DICER1-related tumor predisposition is linked to an increased risk of both benign and malignant tumors, prompting the need for guidelines on testing and imaging for affected individuals.
- A study enrolled participants from various registries and identified 713 individuals with germline DICER1 variants, leading to the diagnosis of multiple cases of pleuropulmonary blastoma (PPB) and ovarian Sertoli-Leydig cell tumors (SLCT).
- The findings suggest that early imaging and surveillance can help detect PPB and may lower the risk of advanced disease, leading to recommendations for earlier ovarian surveillance beginning at the detection of DICER1 variants.
Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well-characterized in children with a pathogenic (HGNC ID:17098) variant. Here, the prevalence, penetrance and phenotype of pathogenic germline variants in adults was investigated in two population-scale cohorts.
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