In this study, the complete mitogenome sequence of Redbelly yellowtail fusileer, Caesio cuning (Teleostei: Caesionidae), has been sequenced by the next-generation sequencing method. The assembled mitogenome, consisting of 16 508 bp, had the typical vertebrate mitochondrial gene arrangement, including 13 protein-coding genes, 22 transfer RNAs, 2 ribosomal RNAs genes and a non-coding control region of D-loop. D-loop contains 826 bp length that is located between tRNA-Pro and tRNA-Phe. The overall base composition of C. cuning is 28.1% for A, 31.1% for C, 16.3% for G and 24.4% for T. The complete mitogenome may provide essential and important DNA molecular data for further phylogenetic and evolutionary analysis for Caesionidae.
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http://dx.doi.org/10.3109/19401736.2015.1111353 | DOI Listing |
Front Neurosci
December 2024
Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt-Universität zu Berlin, Berlin, Germany.
Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.
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December 2024
Department of Vascular Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.
Background: Abdominal aortic aneurysm (AAA) is a serious life-threatening vascular disease, and its ferroptosis/cuproptosis markers have not yet been characterized. This study was aiming to identify markers associated with ferroptosis/cuproptosis in AAA by bioinformatics analysis combined with machine learning models and to perform experimental validation.
Methods: This study used three scRNA-seq datasets from different mouse models and a human PBMC bulk RNA-seq dataset.
Front Cell Infect Microbiol
December 2024
Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background: Targeted next-generation sequencing (tNGS) has become a trending tool in the field of infection diagnosis, but concerns are also raising about its performance compared with metagenomic next-generation sequencing (mNGS). This study aims to explore the clinical feasibility of a tNGS panel for respiratory tract infection diagnosis and compare it with mNGS in the same cohort of inpatients.
Methods: 180 bronchoalveolar lavage fluid samples were collected and sent to two centers for mNGS and tNGS blinded tests, respectively.
Appl Clin Genet
December 2024
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Pediatrics, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Huzhou Central Hospital, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.
Introduction And Importance: Paroxysmal sympathetic hyperactivity (PSH) syndrome often occurs with severe traumatic brain injury. However, it can also occur during infections, such as severe bacterial meningoencephalitis in children. is an aggressive, virulent, opportunistic pathogen.
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