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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFElucidating the role of FBXW4 in osteoporosis: integrating bioinformatics and machine learning for advanced insight.
BMC Pharmacol Toxicol
January 2025
Yanzhou District People's Hospital, Jining, Shandong, China.
Background: Osteoporosis (OP), often termed the "silent epidemic," poses a substantial public health burden. Emerging insights into the molecular functions of FBXW4 have spurred interest in its potential roles across various diseases.
Methods: This study explored FBXW4 by integrating DEGs from GEO datasets GSE2208, GSE7158, GSE56815, and GSE35956 with immune-related gene compilations from the ImmPort repository.
Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis?
Pediatr Res
January 2025
Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Comparative study of degree, neighborhood and reverse degree based indices for drugs used in lung cancer treatment through QSPR analysis.
Sci Rep
January 2025
Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, 11461, Riyadh, Saudi Arabia.
Quantitative structure-property relationship (QSPR) modeling has emerged as a pivotal tool in the field of medicinal chemistry and drug design, offering a predictive framework for understanding the correlation between chemical structure and physicochemical properties. Topological indices are mathematical descriptors derived from the molecular graphs that capture structural features and connectivity, playing a crucial role in QSPR analysis by quantitatively relating chemical structures to their physicochemical properties and biological activities. Lung cancer is characterized by its aggressive nature and late-stage diagnosis, often limiting treatment options and significantly impacting patient survival rates.
View Article and Find Full Text PDFUltrasensitive and selective impedance paper-based analytical device through Dual-C imprinted sensor for determination of carcinoembryonic antigen and C-reactive protein.
Mikrochim Acta
January 2025
Department of Chemistry and Center of Excellence for Innovation in Chemistry, Faculty of Science, Ubon Ratchathani University, Ubon Ratchathani, 34190, Thailand.
Carcinoembryonic antigen (CEA) and C-reactive protein (CRP) are biomacromolecules known as cancer and inflammatory markers. Thus, they play a crucial role in early cancer diagnosis, post-treatment recurrence detection, and tumor risk assessment. This paper describes the development of an ultrasensitive and selective imprinted paper-based analytical device (PAD) as impedance sensor for determination of CEA and CRP in serum samples for point-of-care testing (POCT).
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