Results 181 to 190 of about 51,102 (238)
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The International Journal of Biochemistry & Cell Biology, 2022
Limited treatment options and research in understanding the pathomechanisms of rare diseases has raised concerns about their therapeutic development. One such poorly understood ultra-rare neuromuscular disorder is GNE Myopathy (GNEM) which is caused due to mutation in key sialic acid biosynthetic enzyme, GNE.
Rashmi, Yadav +4 more
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Limited treatment options and research in understanding the pathomechanisms of rare diseases has raised concerns about their therapeutic development. One such poorly understood ultra-rare neuromuscular disorder is GNE Myopathy (GNEM) which is caused due to mutation in key sialic acid biosynthetic enzyme, GNE.
Rashmi, Yadav +4 more
openaire +2 more sources
GNE-235: A Lead Compound Selective for the Second Bromodomain of PBRM1.
Journal of Medicinal Chemistry, 2023Bromodomains are acetyl-lysine binding modules that are found in different classes of chromatin-interacting proteins. Among these are large chromatin remodeling complexes such as BAF and PBAF (variants of human SWI/SNF).
Andrea G Cochran, M. Flynn
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Neuromuscular Disorders, 2023
GNE myopathy is caused by bi allelic recessive mutations in the GNE gene. The largest identified cohort of GNE myopathy patients carries a homozygous mutation- M743T (the "Middle Eastern" mutation).
S. Mitrani-Rosenbaum +2 more
semanticscholar +1 more source
GNE myopathy is caused by bi allelic recessive mutations in the GNE gene. The largest identified cohort of GNE myopathy patients carries a homozygous mutation- M743T (the "Middle Eastern" mutation).
S. Mitrani-Rosenbaum +2 more
semanticscholar +1 more source
Acta Biomaterialia
The immunosuppressive tumor microenvironment, such as lactic acid and matrix metalloproteinases (MMPs) overexpression, has been well confirmed to be adverse for tumor therapy.
Zhu Chen +11 more
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The immunosuppressive tumor microenvironment, such as lactic acid and matrix metalloproteinases (MMPs) overexpression, has been well confirmed to be adverse for tumor therapy.
Zhu Chen +11 more
semanticscholar +1 more source
Distributed Optimal Variational GNE Seeking in Merely Monotone Games
IEEE/CAA Journal of Automatica SinicaIn this paper, the optimal variational generalized Nash equilibrium (v-GNE) seeking problem in merely monotone games with linearly coupled cost functions is investigated, in which the feasible strategy domain of each agent is coupled through an affine ...
Wangli He, Yanzhen Wang
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Medecine sciences : M/S, 2016
GNE myopathy is a rare neuromuscular disease whose description is fairly recent. It predominantly affects the adult population and is an inherited autosomal recessive disorder. Although universal and ubiquitous, GNE myopathy prevails in the Jewish community of Persian origin, living in Iran, Israel or in the United States.
J Andoni, Urtizberea, Anthony, Béhin
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GNE myopathy is a rare neuromuscular disease whose description is fairly recent. It predominantly affects the adult population and is an inherited autosomal recessive disorder. Although universal and ubiquitous, GNE myopathy prevails in the Jewish community of Persian origin, living in Iran, Israel or in the United States.
J Andoni, Urtizberea, Anthony, Béhin
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Herstellung einer Hybrid-GNE-Apparatur
Informationen aus Orthodontie & Kieferorthopädie, 2022Die chirurgisch unterstützte Gaumennahterweiterung (SARME) ist eine Kombinationstherapie aus einer forcierten Gaumennahterweiterung mittels Hyrax-Apparatur und einer operativen Schwächung des zygomaticomaxillären Bereichs.
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Biochimie, 2022
UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in sialic acid biosynthesis. More than 200 homozygous missense or compound heterozygous mutations in GNE have been reported worldwide to cause a rare neuromuscular disorder, GNE myopathy.
Shweta Sharma +4 more
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UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in sialic acid biosynthesis. More than 200 homozygous missense or compound heterozygous mutations in GNE have been reported worldwide to cause a rare neuromuscular disorder, GNE myopathy.
Shweta Sharma +4 more
openaire +2 more sources
Motor axonal neuropathy associated with
AbstractBackgroundMutations in the GNE gene have been so far described as predominantly associated with distal lower‐limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.MethodsWe describe three patients displaying motor neuropathy in association with GNE mutations.
Grecu, Nicolae +10 more
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Molecular Genetics and Metabolism
GNE myopathy is a rare genetic muscle disorder characterized by initial ankle dorsiflexor weakness and the presence of rimmed vacuoles in muscle histopathology.
Young-Eun Park +5 more
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GNE myopathy is a rare genetic muscle disorder characterized by initial ankle dorsiflexor weakness and the presence of rimmed vacuoles in muscle histopathology.
Young-Eun Park +5 more
semanticscholar +1 more source