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"Natural history of skeletal muscle laminopathies: a 2-year prospective study".
Neuromuscul Disord
November 2024
Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:
Article Synopsis
- Skeletal muscle laminopathies (SMLs) are rare genetic disorders linked to mutations in the LMNA gene, affecting skeletal muscles.
- A 2-year study involving 26 patients aimed to understand the progression of SMLs, using various assessments for muscle performance and respiratory function.
- Results indicated a significant decline in muscle function (NSAA score) and respiratory capacity (FVC and FEV1) over two years, while other measurements like walking tests and joint flexibility remained stable.
Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9.
Stem Cell Res
December 2024
Shulan International Medical College, Zhejiang Shuren University, Hangzhou 310015, China. Electronic address:
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. In this study, a lamin A/C knockout human induced pluripotent stem cell line was successfully generated using the CRISPR/Cas9 genome-editing technology, which was confirmed with normal pluripotency and karyotype.
View Article and Find Full Text PDFThe influence of exposure to inorganic arsenic and other arsenic species on early renal impairment among young adults in Taiwan.
Environ Pollut
December 2024
School of Food Safety, College of Nutrition, Taipei Medical University, Taipei, Taiwan; Research Center of Food Safety Inspection and Function Development, Taipei Medical University, Taipei, Taiwan. Electronic address:
Chronic kidney disease (CKD) poses a significant global public health challenge, with environmental toxins potentially contributing to its prevalence. In Taiwan, where arsenic (As) contamination is endemic in certain areas, assessing its impact on renal health is crucial due to the country's high rates of unexplained CKD. This cross-sectional study assessed associations between urinary As species and early renal impairment biomarkers-the microalbumin-to-creatinine ratio (ACR) and β2-microglobulin (B2MG)-in 248 young Taiwanese adults (aged 20-29 years).
View Article and Find Full Text PDFAlleviative effects of C fullerene nanoparticles on arsenate transformation and toxicity to Danio rerio.
Sci Total Environ
October 2024
School of Space and Environment, Beihang University, No. 37, XueYuan Road, HaiDian District, Beijing 100191, PR China. Electronic address:
Widely-used C fullerene nanoparticles (C) result in their release into the aquatic environment, which may affect the distribution and toxicity of pollutants such as arsenic (As), to aquatic organism. In this study, arsenate (As(V)) accumulation, speciation and subcellular distribution was determined in Danio rerio (zebrafish) intestine, head and muscle tissues in the presence of C. Meanwhile we compared how single-walled carbon nanotubes (SWCNTs), multi-walled carbon nanotubes (MWCNTs), graphene oxide (GO) and graphene (GN) nanoparticles alter the behaviors of As(V).
View Article and Find Full Text PDFArsenic behavior in soil-plant system under the manure application with the combination of antibiotic and roxarsone.
Sci Total Environ
October 2024
School of Resource and Environmental Science, Quanzhou Normal University, Quanzhou 362000, PR China; Key Laboratory of Rural Environmental Remediation and Waste Recycling (Quanzhou Normal University), Fujian Province University, Quanzhou 362000, PR China. Electronic address:
Article Synopsis
- * It was found that the presence of antibiotics influences the expression of genes related to arsenic biotransformation, particularly inhibiting the aioA gene while promoting the arsM gene under various treatment conditions.
- * The research highlights the interaction between antibiotic contamination and arsenic levels, suggesting that these factors can significantly alter arsenic dynamics in soil-plant systems and potentially affect environmental risks associated with arsenic exposure.
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