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Article
Open AccessAPOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
Mitochondrial dysfunction has pleiotropic effects and is frequently caused by mitochondrial DNA mutations. However, factors such as significant variability in clinical manifestations make interpreting the path...
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Article
Open AccessPotassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
The primary cilium is a non-motile sensory organelle that extends from the surface of most vertebrate cells and transduces signals regulating proliferation, differentiation, and migration. Primary cilia dysfun...
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Article
Open AccessSialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode
Breastmilk contains bioactive molecules essential for brain and cognitive development. While sialylated human milk oligosaccharides (HMOs) have been implicated in phenotypic programming, their selective role a...
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Article
Open AccessGenomic and physiological resilience in extreme environments are associated with a secure attachment style
Understanding individual capability to adjust to protracted confinement and isolation may inform adaptive plasticity and disease vulnerability/resilience, and may have long-term implications for operations req...
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Article
Prenatal expression of d-aspartate oxidase causes early cerebral d-aspartate depletion and influences brain morphology and cognitive functions at adulthood
The free d-amino acid, d-aspartate, is abundant in the embryonic brain but significantly decreases after birth. Besides its intracellular occurrence, d-aspartate is also present at extracellular level and acts as...
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Article
Intussusception After Roux-en-Y Gastric Bypass: Laparoscopic Management
Intussusception represents an uncommon cause of intestinal obstruction after Rouxen-Y gastric bypass. Symptoms are not specific and clinical presentation may vary from acute intestinal obstruction with or with...
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Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kerstin Kutsche, Marco Tartaglia and colleagues show that missense mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome, a disorder characterized by facial dysmorphism, intellectual disability, digit ...
