Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

Initially described as a triad of immunodeficiency, congenital heart defects and
hypoparathyroidism, 22q11. 2 deletion syndrome (22q11. 2DS) now encompasses a great …

Heart failure is a worldwide leading cause of death. Diet and obesity are particularly of high
concern in heart disease etiology. Gravely, altered nutrition during developmental windows …

ATP-binding cassette transporter B6 (ABCB6), a protein essential for heme biosynthesis in
mitochondria, also functions as a heavy metal efflux pump. Here, we present cryo-electron …

Heme-based gas sensors are an emerging class of heme proteins. Af GcHK, a globin-
coupled histidine kinase from Anaeromyxobacter sp. Fw109-5, is an oxygen sensor enzyme …

This report is the outcome of an EFSA procurement aiming at investigating and summarising
the state of knowledge on (I) the mode-of-action of dsRNA and miRNA pathways,(II) the …

Chromosomal 22q11. 2 deletion syndrome (22q11. 2DS)(ORPHA: 567) caused by
microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder …

Neurodegenerative disease, namely Alzheimer's disease (AD), is characterized by the
accumulation of toxic β-amyloid aggregates and insoluble tau tangles. Mounting evidence …

Given the relative scarcity of cobalt in the earth's crust, its retention in biological systems,
principally (but not exclusively) in the cobalt corrinoids or derivatives of vitamin B12, may be …

Much of the pathology related to typical malformations associated with 22q11. 2DS can be
ascribed to problems with the morphogenesis and subsequent dysfunction of pharyngeal …