The dependence of shugoshin on Bub1-kinase activity is dispensable for the maintenance of spindle assembly checkpoint response in Cryptococcus neoformans. by Satya Dev Polisetty, Krishna Bhat, Kuladeep Das, Ivan Clark, Kevin G Hardwick, Kaustuv Sanyal

“…Timely activation and maintenance of the SAC until defects are corrected is essential for genome stability. Here, we show that shugoshin (Sgo1), a conserved tension-sensing protein, ensures the maintenance of SAC signals in response to unattached kinetochores during mitosis in a basidiomycete budding yeast Cryptococcus neoformans. …”
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Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside by Rajeshwari D. Koilkonda, John Guy

“…These mutations are located at nucleotide positions 3460, 11778, or 14484 in the mitochondrial genome. The disease is characterized by apoplectic, bilateral, and severe visual loss. …”
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An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets by Adam S. L. Graefe, Miriam R. Hübner, Filip Rehburg, Steffen Sander, Sophie A. I. Klopfenstein, Samer Alkarkoukly, Ana Grönke, Annic Weyersberg, Daniel Danis, Jana Zschüntzsch, Elisabeth F. Nyoungui, Susanna Wiegand, Peter Kühnen, Peter N. Robinson, Oya Beyan, Sylvia Thun

“…This work aims to harmonise the Common Data Set by European Rare Disease Registry Infrastructure, Health Level 7 Fast Healthcare Interoperability Base Resources, and the Global Alliance for Genomics and Health Phenopacket Schema into a novel rare disease common data model (RD-CDM), laying the foundation for developing international RD-CDMs aligned with these data standards. …”
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Application Strategies of Super-Enhancer RNA in Cardiovascular Diseases by Yi He, Yuwei Cai, Yanyan Cao, Yan Wang, Jing Wang, Hu Ding

“…Super-enhancer RNAs (seRNAs) are a subset of non-coding RNAs that are transcribed from regions of the genome known as super enhancers, which are large clusters of enhancers with a high density of transcription factors and cofactors. …”
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Exploring the maternal inheritance transmitted by the oocyte to its progeny by Verlhac, Marie-Hélène

“…Interestingly, while the sperm mostly transmits its haploid genome, the oocyte transmits not only its haploid set of chromosomes but also its huge cytoplasm to its progeny. …”
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Archaea methanogens are associated with cognitive performance through the shaping of gut microbiota, butyrate and histidine metabolism by Andrea Fumagalli, Anna Castells-Nobau, Dakshat Trivedi, Josep Garre-Olmo, Josep Puig, Rafel Ramos, Lluís Ramió-Torrentà, Vicente Pérez-Brocal, Andrés Moya, Jonathan Swann, Elena Martin-Garcia, Rafael Maldonado, José Manuel Fernández-Real, Jordi Mayneris-Perxachs

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Identification of EARS2 as a Potential Biomarker with Diagnostic, Prognostic, and Therapeutic Implications in Colorectal Cancer by Wang L, Deng X, Tang J, Gong Y, Bu S, Li Z, Liao B, Ding Y, Dai T, Liao Y, Li Y

“…This study identifies key genes associated with lactic acid metabolism and explore their impact on CRC.Patients and Methods: This study utilized data from The Cancer Genome Atlas, Gene Expression Omnibus, other public databases, and our institutional resources. …”
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Effect of molybdenum supply on crop performance through rhizosphere soil microbial diversity and metabolite variation by Muhammad Shoaib Rana, Muhammad Shoaib Rana, Dikhnah Alshehri, Dikhnah Alshehri, Rui-Long Wang, Muhammad Imran, Yousif Abdelrahman Yousif Abdellah, Faiz Ur Rahman, Marfat Alatawy, Hanaa Ghabban, Hanaa Ghabban, Amany H. A. Abeed, Cheng-xiao Hu

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The impact of the live broadcast of Stromae’s song L’enfer on social media publications, calls to the national helpline, and suicide attempt rates in France by Charles-Edouard Notredame, Chloé Saint-Dizier, Antoine Lamer, Erika Nogue, Emile Fares, Mohamed Lemdani, Guillauma Vaiva, Philippe Courtet, Emilie Olié

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Transcriptional signature of CD56bright NK cells predicts favourable prognosis in bladder cancer by Md Abdullah Al Kamran Khan, Alexander James Sedgwick, Yuhan Sun, Julian P. Vivian, Julian P. Vivian, Julian P. Vivian, Alexandra J. Corbett, Riccardo Dolcetti, Riccardo Dolcetti, Riccardo Dolcetti, Theo Mantamadiotis, Theo Mantamadiotis, Stefano Mangiola, Stefano Mangiola, Stefano Mangiola, Alexander David Barrow

“…We determined the relative abundances of gene signatures for CD56bright and CD56dim NK cells along with 3 stromal and 18 other immune cell types in the patient tumour transcriptomes from the cancer genome atlas bladder cancer dataset (TCGA-BLCA). Using this computational approach, CD56bright NK cells were predicted to be the more abundant tumour-infiltrating NK subset which was also associated with improved patient prognosis. …”
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Clinical and Pathological Roles of Ro/SSA Autoantibody System by Ryusuke Yoshimi, Atsuhisa Ueda, Keiko Ozato, Yoshiaki Ishigatsubo

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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. Three likely pathogenic variants were found. …”
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Rapid expansion and specialization of the TAS2R bitter taste receptor family in amphibians. by Kathleen W Higgins, Akihiro Itoigawa, Yasuka Toda, Daniel Winston Bellott, Rachel Anderson, Roberto Márquez, Jing-Ke Weng

“…Here, we identify 9,291 TAS2Rs from 661 vertebrate genomes. Large-scale phylogenomic analyses reveal that frogs and salamanders contain unusually high TAS2R gene content, in stark contrast to other vertebrate lineages. …”
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Author Correction: Binding affinity screening of polyphenolic compounds in Stachys affinis extract (SAE) for their potential antioxidant and anti-inflammatory effects by Hun Hwan Kim, Se Hyo Jeong, Min Yeong Park, Pritam Bhangwan Bhosale, Abuyaseer Abusaliya, Sang Joon Lee, Jeong Doo Heo, Hyun Wook Kim, Je Kyung Seong, Dong Il Kim, Kwang Il Park, Gon Sup Kim

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Molecular and cellular characteristics of cerebrovascular cell types and their contribution to neurodegenerative diseases by Francisco J. Garcia, Myriam Heiman

“…With the advent of single cell genomics, it is now possible to interrogate the molecular characteristics of diverse cell populations and their alterations in diseased states. …”
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TCfinder: Robust tumor cell discrimination in scRNA‐seq based on gene pathway activity by Chenxu Wu, Wei Ning, Tao Wu, Jing Chen, Huizi Yao, Ziyu Tao, Xiangyu Zhao, Kaixuan Diao, Jinyu Wang, Weiliang Wang, Xinxing Li, Qianqian Song, Xue‐Song Liu

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metaGE: Investigating genotype x environment interactions through GWAS meta-analysis. by Annaïg De Walsche, Alexis Vergne, Renaud Rincent, Fabrice Roux, Stéphane Nicolas, Claude Welcker, Sofiane Mezmouk, Alain Charcosset, Tristan Mary-Huard

“…The genotypic response to environmental stresses can be investigated through multi-environment trials (METs). However, genome-wide association studies (GWAS) of MET data are significantly more complex than that of single environments. …”
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Generation of a human induced pluripotent stem cell line NTUHi006-A from a polycystic ovarian syndrome patient by Chia-Eng Wu, Hsiang-Po Huang, Hong-Nerng Ho, Mei-Jou Chen

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Genetic screening of South African families with Parkinson’s disease by S Bardien, A Braun, R van Coller, F Hassan Amod, J Carr, S Moosa

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Co-profiling of single-cell gene expression and chromatin landscapes in stickleback pituitary by Liang Liu, Jun Kitano, Shuji Shigenobu, Asano Ishikawa

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