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1,073,993 results
  • A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5. [Journal Article]
    Neuropathology 2019Meng L, Wang K, … Yuan Y
  • X-linked Charcot-Marie-Tooth disease-5 (CMTX5) is a rare hereditary disorder caused by mutations in the gene for phosphoribosyl pyrophosphate synthetase-1 (PRPS1). We investigated a boy with a novel PRPS1 mutation (c.334G>C, p.V112L) via genetic, neuropathological and enzymatic tests. The proband was a 13-year-old boy with congenital non-syndromic sensorineural deafness. At 3 year old, he develop…
  • The Impact of Skeletal Muscle Contraction on CD146+Lin- Pericytes. [Journal Article]
    Am J Physiol Cell Physiol 2019Dvoretskiy S, Garg K, … Boppart MD
  • Unaccustomed resistance exercise can initiate skeletal muscle remodeling and adaptive mechanisms that can confer protection from damage and enhanced strength with subsequent stimulation. The myofiber may provide the primary origin for adaptation, yet multiple mononuclear cell types within the surrounding connective tissue may also contribute. The purpose of this study was to evaluate the acute re…
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