Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome by Guillaume Jedraszak, Aline Receveur, Joris Andrieux, Michèle Mathieu-Dramard, Henri Copin, Gilles Morin

“…The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. …”
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Comparison of Procleix Ultrio Elite and Procleix Ultrio NAT Assays for Screening of Transfusion Transmitted Infections among Blood Donors in India by Rahul Chaurasia, Diptiranjan Rout, Shamsuz Zaman, Kabita Chatterjee, Hem Chandra Pandey, Abhishek Kumar Maurya

“…NAT combines the advantages of direct and highly sequence-specific detection of viral genomes. We analysed the performance of newer Procleix Ultrio Elite (PUE) and Procleix Ultrio assay (PUA) for the screening of the viral markers in our donor population. …”
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Inheritance patterns of male asexuality in hybrid males of a water frog Pelophylax esculentus by Marie Doležálková-Kaštánková, Dmitrij Dedukh, Veronika Labajová, Eleonora Pustovalova, Lukáš Choleva

“…Also, most male tadpole progeny in two successive backcrossed generations simultaneously eliminated L and R parental genomes, while some progeny produced only one type of sperm. …”
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Molecular cloning of EZH2 oncogene in chronic myeloid leukemia and therapeutic prospects by Juliana Costa Gaspar, Lucas Santos de Santana, Camila Menezes Freire de Souza, Marcos Montani Caseiro, Rosane Rezende de Souza Giuliani, Cleide Barbieri de Souza

“…For this reason, the EZH2 gene was isolated from peripheral blood genomic DNA from CML patients and cloned in prokaryotic systems. …”
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Single-cell transcriptomes reveal cell-type-specific and sample-specific gene function in human cancer by Huating Yuan, Xin Liang, Xinxin Zhang, Yu Cao

“…We found that 500 or more cells should be considered in the prediction with scRNA-seq, and that scRNA-seq datasets generated from 10x Genomics platform had a better performance than those from Smart-seq2. …”
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Experience and role of Italian nurses working in genetic clinics: a descriptive phenomenological qualitative study by Lea Godino, Camilla Elena Magi, Carla Bruzzone, Stefano Bonora, Marco Seri, Liliana Varesco, Daniela Turchetti

“…This could be achieved through the definition of standard activities and the implementation of formal education in genetics and genomic fields.…”
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Evaluation and Prediction of the HIV-1 Central Polypurine Tract Influence on Foamy Viral Vectors to Transduce Dividing and Growth-Arrested Cells by Sergey Shityakov, Carola Förster, Axel Rethwilm, Thomas Dandekar

“…In this process, the HIV-1 central polypurine tract (cPPT) serves as a primer for plus-strand synthesis to produce a “flap” element and is believed to be crucial for the subsequent double-stranded cDNA formation of all retroviral RNA genomes. In this study, the effects of the lentiviral cPPT element on the FV transduction potential in dividing and growth-arrested (G1/S phase) adenocarcinomic human alveolar basal epithelial (A549) cells are investigated by experimental and theoretical methods. …”
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Tumor Reduction with Pazopanib in a Patient with Recurrent Lumbar Chordoma by Maurício Fernando Silva Almeida Ribeiro, Micelange Carvalho de Sousa, Samir Abdallah Hanna, Marcos Vinicius Calfat Maldaun, Ceci Obara Kurimori, Luiz Guilherme Cernaglia Aureliano de Lima, Romulo Loss Mattedi, Rodrigo Ramella Munhoz

“…He ultimately developed multifocal recurrence not amenable to complete excision or reirradiation. A comprehensive genomic profiling assay was performed and revealed nondrugable alterations. …”
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A novel mode of histone-like protein HupB regulating Sinorhizobium meliloti cell division through lysine acetylation by Ningning Li, Huibo Jin, Hongbo Li, Huilin Yu, Xiaoxu Wu, Tianci Zhang, Liangliang Yu, Zhaoling Qin, Li Luo

“…HU, a small, basic histone-like protein, binds to bacterial genomic DNA, influencing DNA conformation, replication, and transcription. …”
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Diet-derived urolithin A is produced by a dehydroxylase encoded by human gut Enterocloster species by Reilly Pidgeon, Sacha Mitchell, Michael Shamash, Layan Suleiman, Lharbi Dridi, Corinne F. Maurice, Bastien Castagner

“…Here, we use a combination of untargeted bacterial transcriptomics, proteomics, and comparative genomics to uncover an inducible uroC dehydroxylase (ucd) operon in Enterocloster species. …”
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Integrated Bioinformatics-Based Identification of Potential Diagnostic Biomarkers Associated with Diabetic Foot Ulcer Development by Long Qian, Zhipeng Xia, Ming Zhang, Qiong Han, Die Hu, Sha Qi, Danmou Xing, Yan Chen, Xin Zhao

“…These DEGs were then arranged into a protein-protein interaction (PPI) network, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and Gene Ontology (GO) term enrichment analyses were performed to explore the functional roles of these genes. …”
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Targeting of retrovirus-derived Rtl8a/8b causes late-onset obesity, reduced social response and increased apathy-like behaviour by Yoshifumi Fujioka, Hirosuke Shiura, Masayuki Ishii, Ryuichi Ono, Tsutomu Endo, Hiroshi Kiyonari, Yoshikazu Hirate, Hikaru Ito, Masami Kanai-Azuma, Takashi Kohda, Tomoko Kaneko-Ishino, Fumitoshi Ishino

“…Here, we demonstrate that Rtl8a and Rtl8b play important roles in the brain: their double knockout (DKO) mice not only exhibit reduced social responses and increased apathy-like behaviour, but also become obese from young adulthood, similar to patients with late Prader–Willi syndrome (PWS), a neurodevelopmental genomic imprinting disorder. Mouse RTL8A/8B proteins are expressed in the prefrontal cortex and hypothalamus and localize to both the nucleus and cytoplasm of neurons, presumably due to the N-terminal nuclear localization signal-like sequence at the N-terminus. …”
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Intercellular communication is crucial in the regulation of healthy aging via exosomes by Huifang Sun, Tengyuan Xia, Shuting Ma, Tao Lv, Yuhong Li

“…The hallmarks of aging encompass a variety of molecular categories (genomic, telomeric, and epigenetic), organelles (proteostasis, autophagy, and mitochondria), cellular components (including stem cells), systems (such as intercellular communication and chronic inflammation), and environmental factors (dysbiosis and nutrient sensing). …”
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Borrelia burgdorferi tolerates alteration to P66 porin function in a murine infectivity model by Christa H. Fierros, Marie-Line Faucillion, Beth L. Hahn, Phillip Anderson, Mari Bonde, Julie R. Kessler, Matthew C. Surdel, Kyler S. Crawford, Yan Gao, Jieqing Zhu, Jieqing Zhu, Sven Bergström, Jenifer Coburn, Jenifer Coburn

“…Interestingly, four isolates that were recovered for p66 sequencing from mouse tissues revealed novel secondary point mutations in genomic p66. However, these secondary mutations did not rescue P66 porin function. …”
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Polygenic diseases by Sergey Dolomatov, Walery Zukow, Anna Zhukova, Svetlana Smirnova

“…The review encompasses nutrigenetics, sports genomics, and genetic markers associated with athletic performance and injury risk. …”
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Comparative analysis of regression algorithms for drug response prediction using GDSC dataset by Soojung Ha, Juho Park, Kyuri Jo

“…Methods We compared and evaluated the performance of 13 representative regression algorithms using Genomics of Drug Sensitivity in Cancer (GDSC) dataset. …”
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A sedimentary ancient DNA perspective on human and carnivore persistence through the Late Pleistocene in El Mirón Cave, Spain by Pere Gelabert, Victoria Oberreiter, Lawrence Guy Straus, Manuel Ramón González Morales, Susanna Sawyer, Ana B. Marín-Arroyo, Jeanne Marie Geiling, Florian Exler, Florian Brueck, Stefan Franz, Fernanda Tenorio Cano, Sophie Szedlacsek, Evelyn Zelger, Michelle Hämmerle, Brina Zagorc, Alejandro Llanos-Lizcano, Olivia Cheronet, José-Miguel Tejero, Thomas Rattei, Stephan M. Kraemer, Ron Pinhasi

“…Additionally, we provide phylogenetic analyses on 70 sedaDNA mtDNA genomes of fauna including the densest Iberian Pleistocene sampling of C. lupus. …”
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Comprehensive analysis reveals the tumor suppressor role of macrophage signature gene FCER1G in hepatocellular carcinoma by Deyu Kong, Yiping Zhang, Linxin Jiang, Nana Long, Chengcheng Wang, Min Qiu

“…This study utilized single-cell RNA sequencing and genomic analysis to explore the characteristic genes of macrophages in HCC and their impact on patient prognosis. …”
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Liquid Chromatography-Mass Spectrometry-Based Untargeted Metabolomics Analysis of Differential Metabolites in Three Types of Boza Made from Different Raw Materials by WANG Qi, GAO Yan, XUE Juanjuan, ZENG Jun, HUO Xiangdong, ZHAO Zhongkai

“…According to Kyoto Encyclopedia of Genes and Genomes (KEGG) metabolic pathway enrichment analysis, these differential metabolites mainly participated in the biosynthesis of various secondary metabolites in plants, the biosynthesis of phenylpropanoids, the biosynthesis and degradation of flavonoids, and other metabolic pathways. …”
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Characterization of tumor evolution by functional clonality and phylogenetics in hepatocellular carcinoma by Zeynep Kacar, Eric Slud, Doron Levy, Julián Candia, Anuradha Budhu, Marshonna Forgues, Xiaolin Wu, Arati Raziuddin, Bao Tran, Jyoti Shetty, Yotsawat Pomyen, Jittiporn Chaisaingmongkol, Siritida Rabibhadana, Benjarath Pupacdi, Vajarabhongsa Bhudhisawasdi, Nirush Lertprasertsuke, Chirayu Auewarakul, Suleeporn Sangrajrang, Chulabhorn Mahidol, Mathuros Ruchirawat, Xin Wei Wang

“…Furthermore, we observe significant B cell enrichment in linear trees compared to non-linear trees suggesting the need for further research to uncover potential variations in immune cell types within genomically determined phylogeny types. These results hint at the possibility that tumor cells and their microenvironment may collectively influence the tumor evolution process.…”
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