Results 51 to 60 of about 5,472 (195)
, 2018 The biological functions of the dual bromodomains of human transcription-initiation-factor TFIID subunit 1 (TAF1(1,2)) remain unknown, although TAF1 has been identified as a potential target for oncology research.
Vickie Tsui (1947505) +29 more
core +2 more sources
Autophagy in GNE Myopathy [PDF]
, 2013 Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases.
Anna Cho, Satoru Noguchi
openaire +1 more source
Supply Chain Diversification and Industrial Policies to Strengthen Economic Security
Asian Economic Policy Review, EarlyView.ABSTRACT Recently, global supply chains have been disrupted because of geopolitical factors and industrial policies induced by national security concerns. Under these circumstances, creating supply chain resilience and strengthening economic security are of great interest to researchers, policymakers, and business people.
Yasuyuki Todo
wiley +1 more source
Motor axonal neuropathy associated with GNE mutations
, 2021 Background: Mutations 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.
Krahn M. +10 more
core +1 more source
Cancer Science, EarlyView.This study aimed to determine whether personalized selection of effective drugs for SMARCB1/INI1‐deficient tumors is feasible using in vitro drug sensitivity profiling. Drug sensitivity was assessed using a short‐term collagen gel–embedded three‐dimensional drug sensitivity test (3D‐DST) in tumors derived from SMARCB1/INI1‐deficient tumor cell line ...
Hiroaki Goto +12 more
wiley +1 more source
Клинико-генетические характеристики миопатии Нонака (GNE-миопатии) у российских больных
, 2019 Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser ...
А. Ф. Муртазина +13 more
core +1 more source
Gene Editing for Haemophilia—The Next Frontier
Haemophilia, EarlyView.ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti +3 more
wiley +1 more source
Identification of an Alu element‐mediated deletion in the promoter region of
Molecular Genetics & Genomic Medicine, 2017 AbstractBackgroundGNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase.
Jennifer Garland +18 more
openaire +2 more sources
Antibacterial Activity of Heteropolytungstates Against Proteus mirabilis
European Journal of Inorganic Chemistry, Volume 29, Issue 18, 22 June 2026.We investigated the in vitro antibacterial activity of several heteropolytungstates against P. mirabilis, a drug‐resistant pathogen. All tested polyanions inhibited bacterial growth, with the Preyssler–Pope–Jeannin polyanion P5W30 exhibiting the highest activity (MIC = 0.78 mg/mL).
Nour El Ghouch +5 more
wiley +1 more source
Clinical Case Reports, 2022 We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu +4 more
doaj +1 more source