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http://dx.doi.org/10.4103/lungindia.lungindia_524_21 | DOI Listing |
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
EClinicalMedicine
December 2024
Department of Pathology and Genetics, Laboratory of Cancer Medical Science, Hokuto Hospital, Obihiro, Hokkaido, Japan.
Background: Pancreatic cancer is highly aggressive and has a low survival rate primarily due to late-stage diagnosis and the lack of effective early detection methods. We introduce here a novel, noninvasive urinary extracellular vesicle miRNA-based assay for the detection of pancreatic cancer from early to late stages.
Methods: From September 2019 to July 2023, Urine samples were collected from patients with pancreatic cancer (n = 153) from five distinct sites (Hokuto Hospital, Kawasaki Medical School Hospital, National Cancer Center Hospital, Kagoshima University Hospital, and Kumagaya General Hospital) and non-cancer participants (n = 309) from two separate sites (Hokuto Hospital and Omiya City Clinic).
World J Clin Cases
January 2025
Anshan Cancer Hospital, Anshan 114000, Liaoning Province, China.
Background: Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date.
View Article and Find Full Text PDFFront Microbiol
December 2024
College of Biology, Hunan University, Changsha, China.
Introduction: Dengue viruses (DENVs), the causative agents of dengue hemorrhagic fever and dengue shock syndrome, undergo genetic mutations that result in new strains and lead to ongoing global re-infections.
Objectives: To address the growing complexity of identifying and tracking biological samples, this study screened RNA barcode segments for the four DENV serotypes, ensuring high specificity and recall rates for DENV identification using segments.
Results: Through analyzing complete genome sequences of DENVs, we screened eight barcode segments for DENV, DENV-1, DENV-2, DENV-3, and DENV-4 identification.
Front Microbiol
December 2024
School of Basic Medical Sciences, Health Science Center, Ningbo University, Ningbo, China.
Introduction: Japanese encephalitis virus (JEV) and Zika virus (ZIKV) are prevalent in over 80 countries or territories worldwide, causing hundreds of thousands of cases annually. But currently there is a lack of specific antiviral agents and effective vaccines.
Methods: In the present study, to identify human neutralizing monoclonal antibody (mAb) against JEV or/and ZIKV, we isolated ZIKV-E protein-binding B cells from the peripheral venous blood of a healthy volunteer who had received the JEV live-attenuated vaccine and performed 10× Genomics transcriptome sequencing and BCR sequencing analysis, we then obtained the V region amino acid sequences of a novel mAb LZY3412.
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