Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors by Meng Zhang, Xingfeng Yao, Nan Zhang, Yongbo Yu, Chao Jia, Xiaoxing Guan, Wenjian Xu, Xin Ni, Yongli Guo, Lejian He

“…Results The assay achieved a detection threshold of 10 copies for fusion genes and 0.32 ng genomic DNA for BCOR ITDs. The performance of this assay was also tested in a cohort of 43 pediatric tumors (17 undifferentiated small round cell sarcomas, and 26 tumors with a histological diagnosis of CCSK). …”
Get full text

Phylogenetic analysis, metabolic profiling, and environmental adaptation of strain LCG007: a novel Rhodobacteraceae isolated from the East China Sea intertidal zone by Cuizhu Liang, Jiahua Wang, Jie Liu, Zekai Wang, Junwei Cao, Xi Yu, Li Zhang, Jiasong Fang, Jiasong Fang

“…In terms of environmental adaptability, the genes that encode for DNA photolyase, heat and cold shock proteins, and enzymes responsible for scavenging reactive oxygen species, along with those involved in the uptake and biosynthesis of osmoprotectants such as betaine, γ-aminobutyric acid (GABA), and trehalose collectively enable strain LCG007 to survive in the dynamic and complex intertidal zone environment. …”
Get full text

Additional Evidence for DDB2 T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses by Moriel H. Singer-Berk, Kelly E. Knickelbein, Zachary T. Lounsberry, Margo Crausaz, Savanna Vig, Nikhil Joshi, Monica Britton, Matthew L. Settles, Christopher M. Reilly, Ellison Bentley, Catherine Nunnery, Ann Dwyer, Mary E. Lassaline, Rebecca R. Bellone

“…A missense mutation in damage-specific DNA-binding protein 2 (DDB2, c.1012 C>T, p.Thr338Met) was previously found to be strongly associated with ocular SCC in Haflinger and Belgian horses, explaining 76% of cases across both breeds. …”
Get full text

Fetal Rhesus D Genotyping and Sex Determination from Maternal Plasma of Rhesus D-Negative Antenatal Population: The Usefulness of Conventional Polymerase Chain Reaction in Resource... by Otchere Addai-Mensah, Edward Y. Afriyie, Samuel Asamoah Sakyi, Christian Obirikorang, Max Efui Annani-Akollor, Eddie-Williams Owiredu, Francis A. Amponsah, Richard Vikpebah Duneeh, Evans Asamoah Adu

“…Blood samples were collected from each participant (in the third trimester of pregnancy) for DNA extraction/purification and fetal RhD genotyping. …”
Get full text

Molecular-genetic approaches to species identification of platyhelminthes of the genus <i>Ligophorus</i> (Monogenea) parasitising flathead mullet by E. A. Vodiasova, E. S. Chelebieva, O. V. Shikhat, D. M. Atopkin, E. V. Dmitrieva

“…Reverse primers were speciesspecific and, for each species, they were complementary to different DNA regions located 100 bp apart. As a result, L. mediterraneus was characterized by shorter amplicons than L. cephali. …”
Get full text

MsCL-P1: A multifunctional C-type lectin from largemouth bass (Micropterus salmoides) with broad microbe binding and agglutination activities by Siyi She, Ying Ye, Fengyao Guo, Shun Yang, Mengmeng Huang, Hui Fei

“…MsCL-P1, a transmembrane protein with a CRD, was identified through liver transcriptome sequencing and further analyzed for its immune functions. The full-length cDNA of MsCL-P1 encodes a polypeptide of 789 amino acids, including one CRD, four coiled coil regions, and two collagen domains. …”
Get full text

Deep proteomics and network pharmacology reveal sex- and age-shared neuropathic pain signatures in mouse dorsal root ganglia by Sabrina Grundtner, Julia R. Sondermann, Feng Xian, Daniel Malzl, Daniel Segelcke, Esther M. Pogatzki-Zahn, Jörg Menche, David Gómez-Varela, Manuela Schmidt

“…Protein network and multidimensional analysis uncovered distinct hubs of sex- and age-shared biological pathways impacted by neuropathic pain, such as neuronal activity and synaptic function, DNA-damage, and neuroimmune interactions. Taken together, our results capture the complexity of nerve injury-associated DRG alterations in mice at the network level, moving beyond single-candidate studies. …”
Get full text

Bifidobacterium animalis BD400 protects from collagen-induced arthritis through histidine metabolism by Yang Yang, Yang Yang, Qing Hong, Qing Hong, Xuehong Zhang, Zhenmin Liu, Zhenmin Liu

“…Alterations in gut microbiota and metabolites were assessed by 16S rDNA and non-targeted metabolomics.ResultsThe findings reveal that administering Bifidobacterium animalis BD400 orally led to a significant reduction in arthritis clinical scores and paw swelling thickness in CIA rats. …”
Get full text

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…Study Design Whole‐exome sequencing was performed on the proband's DNA, and Sanger sequencing was used to confirm and analyze the identified variant in a 20‐month‐old male patient with motor and speech delays. …”
Get full text

Identification and management of a novel Danshen leaf anthracnose caused by Colletotrichum karstii in Salvia miltiorrhiza Bunge in China by Haoyue Ma, Haoyue Ma, Liguo Huang, Lulu Guo, Lulu Guo, Shan Chen, Jiale Liu, Changyun Liu, Yanxia Dou, Xianchao Sun, Lin He, Guanhua Ma

“…To ensure precise identification, morphological characteristics were supplemented with tandem sequence analysis targeting the rDNA internal transcribed spacer (ITS), β-tubulin (TUB), and histone (His3) regions. …”
Get full text

Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis by E. V. Antontseva, A. O. Degtyareva, E. E. Korbolina, I. S. Damarov, T. I. Merkulova

“…It should be noted that the presence of an association does not allow one to identify a functional, truly disease-associated DNA sequence variant among multiple marker SNPs that are detected due to linkage disequilibrium. …”
Get full text

Evaluation of <i>Brachypodium</i> spp. System Model Against <i>Fusarium poae</i> by Florencia Arroyo, Mauro Martínez, Agustín Arata, María V. Moreno, Marie Dufresne, Sebastián A. Stenglein, María I. Dinolfo

“…Disease severity, conidial quantification, fungal DNA biomass, and nivalenol quantification were assessed. …”
Get full text

Identifying a Serum Exosomal-Associated lncRNA/circRNA-miRNA-mRNA Network in Coronary Heart Disease by Jia Mao, Yufei Zhou, Licheng Lu, Ping Zhang, Runhua Ren, Yaqiong Wang, Jing Wang

“…Functional enrichment analysis showed that DEMs were significantly enriched in “chromatin silencing at rDNA,” “telomere organization,” and “negative regulation of gene expression, epigenetic.” …”
Get full text

Application of rapid genotyping of Warfarin individualized pharmacogenetic variants in Warfarin therapy by Defa Huang, Fangfang Xie, Shengpeng Xiao, Minyang Cai, Die Hu, Baodian Ling, Fangsheng Wang, Xuan Lin, Fangli Song, Qi Wang, Tianyu Zhong

“…This method requires only 1 µL of whole blood, no DNA extraction, takes less than 2 h, costs less than $1, and is able to accurately distinguish between different SNP sites. …”
Get full text

Study of the association of polymorphisms of the folate cycle enzyme gene with the degree of cognitive and affective disorders in patients in the post-covid period by A.A. Shuprovych, O.V. Zinych, N.M. Kushnareva, O.M. Trofymenko, K.P. Komisarenko

“…Recently, molecular genetic studies have become widespread, and demonstrated the importance of DNA and histone methylation processes in the epigenetic regulation of gene expression. …”
Get full text

Investigation of gut microbiota in pediatric patients with peanut allergy in outpatient settings by Shouming Li, Jingyi Huang, Yunyun Xie, Di Wang, Xin Tan, Yufan Wang

“…Fecal samples were collected and genomic DNA was extracted for 16S rRNA gene sequencing to assess gut microbiota composition. …”
Get full text

Detecting gene copy number alterations by Oncomine Comprehensive genomic profiling in a comparative study on FFPE tumor samples by Fabio Bozzi, Elena Conca, Marco Silvestri, Gianpaolo Dagrada, Alice Ardore, Donata Penso, Daniele Lorenzini, Chiara Costanza Volpi, Desirè Viola Trupia, Adele Busico, Iolanda Capone, Federica Perrone, Elena Tamborini, Andrea Vingiani, Luca Agnelli, Giancarlo Pruneri

“…Herein, the CNAs detection by a widely used NGS assay (Oncomine Comprehensive Assay plus®, OCA+) were evaluated in 14 FFPE samples mirroring diagnostic daily practice and compared to a whole-genome assay. OCA+, a targeted DNA panel, showed lower CNAs detection sensitivity and equal specificity for gains and losses. …”
Get full text

Qualitative Parameters of the Colonic Flora in Patients with HNF1A-MODY Are Different from Those Observed in Type 2 Diabetes Mellitus by Sandra Mrozinska, Piotr Radkowski, Tomasz Gosiewski, Magdalena Szopa, Malgorzata Bulanda, Agnieszka H. Ludwig-Galezowska, Iwona Morawska, Agnieszka Sroka-Oleksiak, Bartlomiej Matejko, Przemyslaw Kapusta, Dominika Salamon, Maciej T. Malecki, Pawel Wolkow, Tomasz Klupa

“…The aim of the investigation was to compare the qualitative parameters of the colonic flora in patients with HNF1A-MODY and T2DM and healthy individuals. 16S sequencing of bacterial DNA isolated from the collected fecal samples using the MiSeq platform was performed. …”
Get full text

Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group by Alessia Cavazza, Francisco J. Molina-Estévez, Álvaro Plaza Reyes, Victor Ronco, Asma Naseem, Špela Malenšek, Peter Pečan, Annalisa Santini, Paula Heredia, Araceli Aguilar-González, Houria Boulaiz, Qianqian Ni, Marina Cortijo-Gutierrez, Kristina Pavlovic, Inmaculada Herrera, Berta de la Cerda, Emilio M. Garcia-Tenorio, Eva Richard, Sergio Granados-Principal, Arístides López-Márquez, Mariana Köber, Marijana Stojanovic, Melita Vidaković, Irene Santos-Garcia, Lorea Blázquez, Emily Haughton, Dongnan Yan, Rosario María Sánchez-Martín, Loubna Mazini, Gloria Gonzalez Aseguinolaza, Annarita Miccio, Paula Rio, Lourdes R. Desviat, Manuel A.F.V. Gonçalves, Ling Peng, Cecilia Jiménez-Mallebrera, Francisco Martin Molina, Dhanu Gupta, Duško Lainšček, Yonglun Luo, Karim Benabdellah

“…Genome editing can be performed using various platforms, where programmable DNA nucleases create permanent genetic changes at specific genomic locations due to their ability to recognize precise DNA sequences. …”
Get full text

Development and evaluation of optimized PCR and indirect ELISA for the detection of Morganella morganii in dairy cows by Meihua Zhang, Jiayi Li, Jianfeng Xue, Huiling Xu, Muzi Li, Yibo Xia, Changxi Qi, Pu Zhang, Yongxia Liu, Jianzhu Liu

“…Currently, detection methods for M. morganii are underdeveloped, prompting us to develop both pathogenic and serological detection methods, including an optimized PCR technique and an indirect enzyme-linked immunosorbent assay (I-ELISA).MethodsThe optimized PCR method utilized bacterial suspensions directly as templates, bypassing the need for DNA extraction and thereby allowing the direct detection of M. morganii in fecal samples. …”
Get full text