A nucleotide substitution in codon 140 of HLA-C*14:02:01:01 results in a novel allele, HLA-C*14:51.
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http://dx.doi.org/10.1111/tan.13560 | DOI Listing |
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
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December 2024
School of Chemistry, Faculty of Engineering and Physical Sciences, University of Southampton, Life Sciences Building 85, University Road, Highfield, Southampton, SO17 1BJ, UK.
Osteoarthritis (OA) is a complex disease of cartilage characterised by joint pain, functional limitation, and reduced quality of life with affected joint movement leading to pain and limited mobility. Current methods to diagnose OA are predominantly limited to X-ray, MRI and invasive joint fluid analysis, all of which lack chemical or molecular specificity and are limited to detection of the disease at later stages. A rapid minimally invasive and non-destructive approach to disease diagnosis is a critical unmet need.
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December 2024
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, JianShe Road 1#, Zhengzhou, 450000, China.
Previous observational studies have suggested at a potential link between migraine, particularly migraine with aura, and the susceptibility to early-onset ischemic stroke. We aimed to investigate the causal effects of genetically determined migraine and its subtypes on the risk of early-onset ischemic stroke using the two-sample Mendelian randomization method. Genetic instrumental variables associated with migraine and its subtypes were acquired from two sources with the largest sample sizes available.
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December 2024
College of Pharmacy, Key Laboratory of Innovative Drug Development and Evaluation, Hebei Medical University, Shijiazhuang, 050017, China.
The abnormal expression of acetylcholinesterase (AChE) is linked to the development of various diseases. Accurate determination of AChE activity as well as screening AChE inhibitors (AChEIs) holds paramount importance for early diagnosis and treatment of AChE-related diseases. Herein, a fluorescent and colorimetric dual-channel probe based on gold nanoclusters (AuNCs) and manganese dioxide nanosheets (MnO NSs) was developed.
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December 2024
The Department of Mechanical Engineering and Mechatronics, Ariel University, Ariel, Israel.
Autism spectrum disorder (ASD) involves challenges in communication and social interaction, including challenges in recognizing emotions. Existing technological solutions aim to improve social behaviors in individuals with ASD by providing learning aids. This paper presents a real-time environmental translator designed to enhance social behaviors in individuals with ASD using sensory substitution.
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