Results 31 to 40 of about 2,960 (158)
Frontiers in Bioscience-Landmark, 2023 Background: A key mechanism in the neuromuscular disease GNE myopathy (GNEM) is believed to be that point mutations in the GNE gene impair sialic acid synthesis – maybe due to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) activity ...
Emilia Peters +4 more
doaj +1 more source
GNE – related severe congenital macrothrombocytopenia: A case report and literature review
Journal of Applied Hematology, 2022 Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance.
Muhammad Matloob Alam +6 more
doaj +1 more source
4472 Plasma Neurofilament Light as a Biomarker for Pediatric Patients with Huntington’s Disease
Journal of Clinical and Translational Science, 2020 OBJECTIVES/GOALS: The goal of this study is to compare plasma neurofilament light (NfL) concentrations in asymptomatic children and young adults that carry the gene expansion (GE group) that causes Huntington’s Disease to similar subjects that do not ...
Jordan L Schultz
doaj +1 more source
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy
npj Regenerative Medicine, 2022 Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt +8 more
doaj +1 more source
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
Biomolecules, 2023 Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM).
Vanessa Hagenhaus +10 more
doaj +1 more source
GNE: A deep learning framework for gene network inference by aggregating biological information [PDF]
BMC Systems Biology, 2018 Abstract The topological landscape of gene interaction networks provides a rich source of information for inferring functional patterns of genes or proteins. However, it is still a challenging task to aggregate heterogeneous biological information such as gene expression and gene interactions to achieve more accurate ...
Kishan KC +4 more
openaire +2 more sources
Journal of Experimental & Clinical Cancer Research, 2022 Background Acute myeloid leukemia (AML) is a myeloid neoplasm makes up 7.6% of hematopoietic malignancies. Super-enhancers (SEs) represent a special group of enhancers, which have been reported in multiple cell types.
Fang Fang +21 more
doaj +1 more source
Behavioral features in child and adolescent huntingtin gene‐mutation carriers
Brain and Behavior, 2022 Introduction We compared neuropsychiatric symptoms between child and adolescent huntingtin gene‐mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between ...
Erin E. Reasoner +8 more
doaj +1 more source
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles [PDF]
Journal of Human Genetics, 2005 Distal myopathy with rimmed vacuoles (DMRV; MIM 605820) is an autosomal recessive neuromuscular disorder characterized by weakness of the anterior compartment of the lower limbs, sparing the quadriceps muscles. Recently, mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene have been identified as the genetic basis ...
Byoung Joon, Kim +5 more
openaire +4 more sources