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Epigenetics in Neurodegenerative Diseases.
Subcell Biochem
January 2025
Faculty of Medicine and Faculty of Life Sciences, Institute of Biomedical Sciences (ICB), Universidad Andres Bello, Santiago, Chile.
Healthy brain functioning requires a continuous fine-tuning of gene expression, involving changes in the epigenetic landscape and 3D chromatin organization. Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), and frontotemporal dementia (FTD) are three multifactorial neurodegenerative diseases (NDDs) that are partially explained by genetics (gene mutations and genetic risk factors) and influenced by non-genetic factors (i.e.
View Article and Find Full Text PDFRenal cell carcinoma with ALK-TPM3 gene fusion and ALK amplification: A case report and literature review.
Pathol Res Pract
January 2025
Department of Pathology, Air Force Medical Center, PLA, Beijing, PR China. Electronic address:
Background: Anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (ALK-RCC) is a rare molecularly defined tumor entity included in the fifth edition of the World Health Organization Classification of Tumors. It is characterized by rearrangement of the ALK gene with various fusion partner genes, which most commonly results in oncogenic fusion proteins leading to ALK activation.
Case Presentation: A 30-year-old Chinese man underwent partial nephrectomy for a left renal tumor measuring 5 cm in diameter.
Optimization of protocol for analysis of dicarboxylic acids in ambient aerosol samples using GC-MS: method comparison and application.
Environ Monit Assess
January 2025
Department of Civil Engineering, APTL, Centre for Environmental Science and Engineering (CESE), IIT Kanpur, Kanpur, 208016, UP, India.
Dicarboxylic acids (DCAs), with their deliquescence and hygroscopic nature, can function as cloud condensation nuclei (CCN) and ice nuclei (IN), affecting rainfall patterns. DCA analysis can serve as organic molecular markers for anthropogenic and biogenic sources. Very few studies deal with the optimization of the protocol for qualitative and quantitative analysis of DCAs using gas chromatography-mass spectrometry (GC-MS).
View Article and Find Full Text PDFEvaluation of auditory pathways and comorbid inner ear malformations in pediatric patients with Duane retraction syndrome.
Int J Pediatr Otorhinolaryngol
December 2024
Hacettepe University, Faculty of Medicine, Department of Opthalmology, Ankara, Turkey.
Aims And Objectives: This study aimed to investigate the presence, type, and severity of hearing losses in individuals with Duane Retraction Syndrome (DRS), and to ascertain if there are anomalies in the auditory pathways at the brainstem level in DRS, believed to arise from aberrant interaction between cranial nerves and brainstem nuclei.
Study Design: Cross-sectional observational study.
Setting: Tertiary referral centre.
Chromosome-level genome assembly of the northern snakehead (Channa argus) using PacBio and Hi-C technologies.
Sci Data
December 2024
Key Laboratory of Mariculture (Ocean University of China), Ministry of Education (KLMME), Fisheries College, Ocean University of China, Qingdao, 266003, China.
The evolutionary origins of specialized organs pose significant challenges for empirical studies, as most such organs evolved millions of years ago. The Northern snakehead (Channa argus), an air-breathing fish, possesses a suprabranchial organ, a common feature of the Anabantoidei, offering a unique opportunity to investigate the function and evolutionary origins of specialized organs. In this study, a high-quality chromosome-level reference genome of C.
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