Results 61 to 70 of about 1,067 (171)
Metabolism‐Regulating Nanomedicines for Cancer Therapy
Advanced NanoBiomed Research, Volume 6, Issue 1, January 2026.This review highlights metabolism‐regulating nanomedicines designed to target glycolytic, lipid, amino acid, and nucleotide pathways in tumors. By incorporating metabolism‐regulating agents into versatile nanocarriers such as liposomes, micelles, dendrimers, and engineered bacteria, these platforms achieve targeted delivery, controlled release ...
Xiao Wu, Shiyi Geng, Jian Yang
wiley +1 more source
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy [PDF]
, 2013 BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway.
최영철, 홍지만, 서경임
core +1 more source
Bialelic pathogenic (c.830g>a(p.r277q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype [PDF]
, 2023 Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually preserves the quadriceps and presents with bilateral foot drop, usually caused by anterior ...
Gezdirici, Alper +4 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen +3 more
wiley +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
JCSM Communications, Volume 9, Issue 1, January/June 2026.ABSTRACT Quantitative muscle imaging (qMRI) is an established method for detecting muscular changes, particularly in the diagnosis and follow‐up of conditions as muscular injuries and neuromuscular diseases. While global T2 reflects all tissue components and cannot reliably indicate disease activity in fat‐replaced muscles, water T2 times (wT2) can ...
Johanna Thomä +4 more
wiley +1 more source
Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy [PDF]
, 2013 PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs.
최영철, 박형준, 신하영
core +1 more source
European Journal of Neurology, Volume 33, Issue 1, January 2026.This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá +14 more
wiley +1 more source
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [PDF]
PLoS ONE, 2017 GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA).
Yiumo Michael Chan +7 more
doaj +1 more source
Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing
Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney +2 more
wiley +1 more source