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Histopathological marks of tongue in a mouse model for oculopharyngeal muscular dystrophy suggest biomechanical defects.
Am J Pathol
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:
The tongue facilitates vital activities such as swallowing. Swallowing difficulties (dysphagia) are common in the elderly and in many adult-onset neuromuscular diseases. In oculopharyngeal muscular dystrophy (OPMD), dysphagia is often the first symptom.
View Article and Find Full Text PDFPromoted read-through and mutation against pseudouridine-CMC by an evolved reverse transcriptase.
Commun Biol
January 2025
Department of Chemistry, Merkert Chemistry Center, Boston College, Chestnut Hill, MA, USA.
Pseudouridine (Ψ) is an abundant RNA chemical modification that plays critical biological functions. Current Ψ detection methods are limited in identifying Ψs at base-resolution in U-rich sequence contexts, where Ψ occurs frequently. Here we report "Mut-Ψ-seq" that utilizes the classic N-cyclohexyl N'-(2-morpholinoethyl)carbodiimide (CMC) agent and an evolved reverse transcriptase ("RT-1306") for Ψ mapping at base-resolution.
View Article and Find Full Text PDFGenomic characterization reveals distinct mutational landscape of acral melanoma in East Asian.
J Genet Genomics
January 2025
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Melanoma and Sarcoma, Peking University Cancer Hospital and Research Institute, Beijing 100142, China. Electronic address:
Acral melanoma, the most common melanoma subtype in East Asia, is associated with a poor prognosis. This study aims to comprehensively analyze the genomic characteristics of acral melanoma in East Asians. We conduct whole-genome sequencing of 55 acral melanoma tumors and perform data mining with relevant clinical data.
View Article and Find Full Text PDFUnraveling the potential mechanism and prognostic value of pentose phosphate pathway in hepatocellular carcinoma: a comprehensive analysis integrating bulk transcriptomics and single-cell sequencing data.
Funct Integr Genomics
January 2025
Institute of Infectious Diseases, Guangdong Province, Guangzhou Eighth People's Hospital, Guangzhou Medical University, 8 Huaying Road, Baiyun District, Guangzhou, 510440, China.
Hepatocellular carcinoma (HCC) remains a malignant and life-threatening tumor with an extremely poor prognosis, posing a significant global health challenge. Despite the continuous emergence of novel therapeutic agents, patients exhibit substantial heterogeneity in their responses to anti-tumor drugs and overall prognosis. The pentose phosphate pathway (PPP) is highly activated in various tumor cells and plays a pivotal role in tumor metabolic reprogramming.
View Article and Find Full Text PDFRoles of Mature Domain Targeting Signals (MTSs) for Protein Translocation and Secretion in .
Int J Mol Sci
December 2024
Institute of Food Technology, Department of Food Science and Technology, BOKU University, 1190 Vienna, Austria.
is a potential bacterial cell factory to develop delivery systems for vaccines and therapeutic proteins. Much progress has been made in applications using engineered against, e.g.
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