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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Opportunities and limitations of B cell depletion approaches in SLE.
Nat Rev Rheumatol
January 2025
Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK.
B cell depletion with rituximab, a chimeric monoclonal antibody that selectively targets B cells by binding CD20, has been used off label in severe and resistant systemic lupus erythematosus (SLE) for over two decades. Several biological mechanisms limit the efficacy of rituximab, including immunological reactions towards the chimeric molecule, increased numbers of residual B cells, including plasmablasts and plasma cells, and a post-treatment surge in B cell-activating factor (BAFF) levels. Consequently, rituximab induces remission in only a proportion of patients, and safety issues limit its use.
View Article and Find Full Text PDFAll-solid-state Li-S batteries with fast solid-solid sulfur reaction.
Nature
January 2025
Beijing Key Laboratory for Theory and Technology of Advanced Battery Materials, School of Materials Science and Engineering, Peking University, Beijing, China.
With promises for high specific energy, high safety and low cost, the all-solid-state lithium-sulfur battery (ASSLSB) is ideal for next-generation energy storage. However, the poor rate performance and short cycle life caused by the sluggish solid-solid sulfur redox reaction (SSSRR) at the three-phase boundaries remain to be solved. Here we demonstrate a fast SSSRR enabled by lithium thioborophosphate iodide (LBPSI) glass-phase solid electrolytes (GSEs).
View Article and Find Full Text PDFTPPP3, a Good Prognostic Indicator, Suppresses Cell Proliferation and Migration in OSCC.
Int Dent J
January 2025
Hunan Key Laboratory of Oral Health Research, Hunan Clinical Research Center of Oral Major Diseases and Oral Health, Xiangya Stomatological Hospital, Xiangya School of Stomatology, Central South University, Changsha, Hunan, China. Electronic address:
Introduction And Aims: Oral squamous cell carcinoma (OSCC) is one of the most prevalent malignancy of the head and neck. Early diagnosis of OSCC is difficult and the prognosis has not improved significantly. This study aims to explore the role of tubulin polymerisation promoting protein 3 (TPPP3) in the occurrence and development of OSCC and discover new diagnostic and prognostic markers for OSCC.
View Article and Find Full Text PDFSimultaneous Ring-Opening and Dehydrogenation of Diarylethene Induced by Tunneling Electrons.
Chemphyschem
January 2025
Keio University Faculty of Science and Technology Graduate School of Science and Technology: Keio Gijuku Daigaku Rikogakubu Daigakuin Rikogaku Kenkyuka, Applied Physics and Physico-Informatics, 3-14-1 Hiyoshi, Kohoku-ku, 223-8522, Yokohama, JAPAN.
Understanding the reversible transformation between two isomeric states of organic molecules under external stimulation is essential for advancing single-molecule device development. Photochromic diarylethene (DAE) derivatives are promising candidates for single molecular switching elements. This study investigates the single-molecule reactions of the closed-form isomer of a DAE derivative on Cu(111) using scanning tunneling microscopy (STM).
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