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Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.
J Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFMechanism of Conformational Selection of tRNA by Bacterial Deaminase TadA.
Biochemistry
March 2025
Department of Chemistry, Indian Institute of Technology Bombay, Powai, Mumbai 400076, India.
Base editing is a common mechanism by which organisms expand their genetic repertoire to access new functions. Here, we explore the mechanism of tRNA recognition in the bacterial deaminase TadA, which exclusively recognizes tRNA and converts the wobble base adenosine (A34) to inosine. We quantitatively evaluate the dynamics of tRNA binding by incorporating the fluorescent adenine analogue 2-aminopurine (2-AP) at position 34 in the wobble base of the anticodon loop.
View Article and Find Full Text PDFHealth literacy in adults with a spinal cord injury or disorder: An updated and expanded systematic review.
Disabil Health J
March 2025
School of Psychology, The University of Adelaide, SA, 5000, Australia.
Background: The importance of health literacy in personal health management is widely recognised in the general population, yet remains poorly understood in some patient groups, including people with spinal cord injury or disorder (SCI/D).
Objectives: The systematic review had two objectives: (1) to determine the health literacy levels of individuals with SCI/D, and (2) to identify facilitators and barriers to developing health literacy in this group.
Methods: Seven databases (CINAHL, Embase, Emcare, ProQuest, PsycINFO, PubMed, and Web of Science) were searched from inception, with an updated search completed on January 21, 2025.
Diurnal variations of biogenic volatile organic compounds and their role in secondary pollutant formation in the Huai Hong Khrai subtropical forest, Thailand.
Environ Pollut
March 2025
National Astronomical Research Institute of Thailand (Public Organization), Chiang Mai, Thailand; School of Science, Mae Fah Luang University, Chiang Rai, Thailand; Center of Chemical Innovation for Sustainability (CIS), Mae Fah Luang University, Chiang Rai, Thailand. Electronic address:
Understanding the emissions and atmospheric impact of biogenic volatile organic compounds (BVOCs) in subtropical forests remains limited despite their role in secondary pollutant formation. This study presents the first comprehensive BVOC dataset from the Huai Hong Khrai subtropical forest, Northern Thailand, during the dry season (March 4-9, 2024). Using thermal desorption gas chromatography-mass spectrometry (TD-GC-MS), we identified 45 BVOCs, dominated by monoterpenes, sesquiterpenes, and oxygenated derivatives.
View Article and Find Full Text PDFThe coevolutionary landscape of drug resistance in epidermal growth factor receptor: A cancer perspective.
Comput Biol Med
March 2025
Department of Bioinformatics, Central University of South Bihar, Gaya, Bihar, 824236, India. Electronic address:
Epidermal growth factor receptor (EGFR), the first receptor tyrosine kinase, plays a critical role in neoplastic metastasis, angiogenesis, tumor invasion, and apoptosis, making it a prime target for treating non-small cell lung cancer (NSCLC). Although tyrosine kinase inhibitors (TKIs) have shown high efficacy and promise for cancer patients, resistance to these drugs often develops within a year due to alterations. The present study investigates the compensatory alterations in EGFR to understand the evolutionary process behind drug resistance.
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