Aberrant O‐Glc
The FEBS Journal, 2016 UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions.
Dorit, Bennmann +4 more
openaire +2 more sources
Scientific Reports, 2022 GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A>T encoding p.
Wakako Yoshioka +16 more
doaj +1 more source
Quality-Of-Service Provisioning in Decentralized Networks: A Satisfaction Equilibrium Approach [PDF]
, 2011 This paper introduces a particular game formulation and its corresponding notion of equilibrium, namely the satisfaction form (SF) and the satisfaction equilibrium (SE).
Debbah, Mérouane +3 more
core +2 more sources
A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG +7 more
doaj +1 more source
Energy-Efficient Power Control for Contention-Based Synchronization in OFDMA Systems with Discrete Powers and Limited Feedback [PDF]
, 2013 This work derives a distributed and iterative algorithm by which mobile terminals can selfishly control their transmit powers during the synchronization procedure specified by the IEEE 802.16m and the 3GPP-LTE standards for orthogonal frequency-division ...
Bacci, Giacomo +3 more
core +2 more sources
Identification of a
Journal of Cellular and Molecular Medicine, 2018 AbstractGNE myopathy is a rare, recessively inherited, early adult‐onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase gene (GNE).
Yuan Wu +10 more
openaire +2 more sources
Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort
Open Medicine, 2021 GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort.
Attri Shivangi +4 more
doaj +1 more source
Theoretical predictions for extraction of GEn from semi-inclusive electron scattering on polarized 3He based on various nucleon-nucleon interactions [PDF]
, 2002 The process 3He(e,e'n) with polarized electrons and 3He in the initial state is theoretically analyzed with the aim to search for sensitivity to the electric form factor of the neutron, GEn.
Gloeckle, W. +5 more
core +3 more sources
Loss of GNE Predicts Lymph Node Metastasis in Early Gastric Cancer
Cells, 2022 Endoscopic surgery is increasingly utilized for the treatment of early gastric cancer (EGC) worldwide, whereas lymph node metastasis (LNM) remains a critical risk factor for the relapse of EGC after endoscopic surgery.
Xinying Guo +8 more
doaj +1 more source
Nucleon Form Factor Experiments and the Pion Cloud [PDF]
, 2006 The experimental and theoretical status of elastic electron scattering from the nucleon is reviewed. A wealth of new data of unprecedented precision, especially at small values of the momentum transfer, in parallel to new theoretical insights, has ...
de Jager, Kees
core +3 more sources