Author: Aris N Economides

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Preprints

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

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Targeted delivery of acid alpha-glucosidase corrects skeletal muscle phenotypes in Pompe disease mice

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  • In bioengineering: 724
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Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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  • In genetics: 2,452
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The finger 2 tip loop of Activin A is required for the formation of its non-signaling complex with ACVR1 and type II Bone Morphogenetic Protein receptors

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  • In cell biology: 2,643
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Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

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  • In genetics: 2,630
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The cortico-striatal circuit regulates sensorimotor gating via Disc1/Huntingtin-mediated Bdnf transport

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  • In neuroscience: 10,051
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Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

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  • In genetics: 3,283
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ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1

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  • In biochemistry: 2,233
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Saracatinib is an efficacious clinical candidate for fibrodysplasia ossificans progressiva

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  • In molecular biology: 2,458
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Odd skipped-related 1 (Osr1) identifies muscle-interstitial fibro-adipogenic progenitors (FAPs) activated by acute injury

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  • In cell biology: 3,879
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