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| http://dx.doi.org/10.4269/ajtmh.17-0995 | DOI Listing |
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Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.
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January 2025
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College (PUMC) and Chinese Academy of Medical Science (CAMS), Beijing, China.
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement.
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Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. Noninvasive serum biomarkers have become key tools for diagnosing and monitoring ATTRv. This review examines the role of available biomarkers for neurological, cardiac, renal, gastrointestinal, and multisystemic involvement in ATTRv.
View Article and Find Full Text PDFAssessing cognitive functions in non-neuropsychiatric childhood systemic lupus erythematosus: Cross-sectional study.
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Hacettepe University, Department of Pediatric Rheumatology, Ankara, Turkey.
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View Article and Find Full Text PDF[Correlation of Mutation with Clinical Features and Prognosis of Langerhans Cell Histiocytosis in Cildren].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Chongqing Key Laboratory of Pediatrics, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, China.
Objective: To explore the gene mutations of Langerhans cell histiocytosis in children, and to analyze the correlation of mutation with clinical features and prognosis of LCH, so as to provide reference for clinical diagnosis and treatment.
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Results: Among the 78 children, 41 cases (52.
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