Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.

: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .

A Multistep Oxidative Cascade Reaction from a Naphthalenediol-Based Pre-Ligand to a Tetranuclear Perylenequinone-Based Fe Complex.

We have developed a family of dinuclear complexes using 2,7-disubstituted 1,8-naphthalenediol ligands that bind by molecular recognition to two neighboring phosphate diesters of the DNA backbone with the dinuclear Cu and Ni complexes exhibiting a severe cytotoxicity for human cancer cells. To increase the binding affinity, we intended to synthesize the corresponding dinuclear Fe complex. Surprisingly, we obtained a tetranuclear Fe perylene-based complex instead of the expected dinuclear Fe naphthalene-based complex.

P2X7 receptor in macrophage polarization and its implications in neuroblastoma tumor behavior.

Tumor-associated macrophages (TAMs) exhibit antitumor or protumor responses related to inflammatory (or M1) and alternative (or M2) phenotypes, respectively. The P2X7 receptor plays a key role in macrophage polarization, influencing inflammation and immunosuppression. In this study, we investigated the role of the P2X7 receptor in TAMs.