Results 31 to 40 of about 51,102 (238)
GNE genotype explains 20% of phenotypic variability in GNE myopathy [PDF]
Neurology Genetics, 2019 To test the hypothesis that common GNE mutations influence disease severity; using statistical analysis of patient cohorts from different countries.Systematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set.
Pogoryelova O +5 more
openaire +3 more sources
IEEE Access, 2021 Microservice-based systems promote agility and rapid business development. Some features, such as fast time-to-market, scalability and optimal response times, have encouraged stakeholders to get more involved in the development and implementation of ...
Gaston Marquez +4 more
doaj +1 more source
Mutation Update forGNEGene Variants Associated with GNE Myopathy [PDF]
Human Mutation, 2014 The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not
Frank V, Celeste +9 more
openaire +2 more sources
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
PLoS ONE, 2008 BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili +7 more
doaj +1 more source
An IMS LD Graphic Editor using the graphs representation for modifying the course structures
Journal of Interactive Media in Education, 2005 Commentary on: Chapter 20: Delivery of Learning Design: the Explor@ System?s Case. (Paquette, Marino, De la Teja, Léonard, & Lundgren-Cayrol, 2005) Abstract: We developed a Web portal, named netUniversité, that enables the teachers to create their ...
Ecaterina Giacomini Pacurar +2 more
doaj +1 more source
Nationwide patient registry for GNE myopathy in Japan [PDF]
, 2014 BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura +7 more
core +1 more source
Relativistic effects on the neutron charge form factor in the constituent quark model [PDF]
, 1999 The neutron charge form factor GEn(Q**2) is investigated within a constituent quark model formulated on the light-front. It is shown that, if the quark initial motion is neglected in the Melosh rotations, the Dirac neutron form factor F1n(Q**2)$ receives
Capstick +8 more
core +2 more sources
Distributed power control over interference channels using ACK/NACK feedback [PDF]
, 2014 In this work, we consider a network composed of several single-antenna transmitter-receiver pairs in which each pair aims at selfishly minimizing the power required to achieve a given signal-to-interference-plus-noise ratio. This is obtained modeling the
Andreotti, Riccardo +3 more
core +3 more sources
Sialylation and muscle performance: sialic acid is a marker of muscle ageing.
PLoS ONE, 2013 Sialic acids (Sia) are widely expressed as terminal monosaccharides on eukaryotic glycoconjugates. They are involved in many cellular functions, such as cell-cell interaction and signal recognition.
Frank Hanisch +8 more
doaj +1 more source
Altered Actin Dynamics in Cell Migration of GNE Mutant Cells
Frontiers in Cell and Developmental Biology, 2021 Cell migration is an essential cellular process that requires coordination of cytoskeletal dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in maintaining the cellular structure as well as regulating the mechanisms of ...
Shamulailatpam Shreedarshanee Devi +2 more
doaj +1 more source