Publications by authors named "B S Menendez"
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
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- * A systematic review identified 36 new pathogenic and 10 likely pathogenic variants through measuring esterase activity, creating a reliable method for classifying variants related to PNPLA6.
- * The study revealed a significant link between NTE activity levels and the presence of specific symptoms like retinopathy and endocrinopathy, supporting the idea that PNPLA6 disorders are a spectrum of related phenotypes based on NTE genotype and activity, setting the stage for future therapies.
Climate and air pollution have adverse effects on cultural heritage building materials. However, the quantified damage due to modeled changes in climate and air pollution is still poorly studied. Here, we review first the damage affecting these materials and the associated damage equations in the literature.
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- Biallelic pathogenic variants in the NTE gene are linked to various disorders that cause issues like gait disturbance, visual impairment, and hormonal problems such as anterior hypopituitarism.
- A clinical meta-analysis of new and previously reported patients identifies specific missense variants as significant contributors to disease pathogenesis, with a developed functional assay helping to classify variants of unknown significance.
- Findings show a clear connection between reduced NTE activity and the occurrence of certain conditions (retinopathy and endocrinopathy), suggesting a continuous spectrum of disorders based on NTE functionality, which may guide future therapeutic strategies.
The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent manner to pump protons across membranes and acidify organelles, thereby creating the proton/pH gradient required for membrane trafficking by several different types of transporters. We describe heterozygous point variants in ATP6V0C, encoding the c-subunit in the membrane bound integral domain of the vacuolar H+-ATPase, in 27 patients with neurodevelopmental abnormalities with or without epilepsy. Corpus callosum hypoplasia and cardiac abnormalities were also present in some patients.
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