A MISSENSE MUTATION IN TRAPPC6A LEADS TO BUILD-UP OF THE PROTEIN, IN PATIENTS WITH A NEURODEVELOPMENTAL SYNDROME AND DYSMORPHIC FEATURES

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Abstract Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes.We identified a consanguineous family of Saudi origin with varying complex features Satellite Coffee Servers including intellectual disability, speech d

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Role of constitutive behavior and tumor-host mechanical interactions in the state of stress and growth of solid tumors.

Mechanical forces play a crucial role in tumor patho-physiology.Compression of cancer cells inhibits their proliferation rate, induces apoptosis and enhances their invasive and metastatic potential.Additionally, compression of intratumor blood vessels reduces the supply of oxygen, nutrients and drugs, affecting tumor progression and treatment.Despi

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Human Milk Oligosaccharides: The Journey Ahead

Breast milk is a complex biological fluid that is rich in nutrients and bioactive agents that support the healthy growth and development of the newborns.Human milk oligosaccharides (HMOs) are unconjugated glycans that constitute an important component of the protection conferred by breast milk on the neonate.HMOs may act Foundations locally on the

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