Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma by CAO Yuanyuan, YUAN Zhaojun, JIN Chuanyang, WANG Tianzi, LIAO Xiaojie, LIU Hong

“…[Methods] Clinical data of the patient were collected. Genomic DNA was extracted from the patient′s peripheral blood sample. …”
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Effects of mode of reproduction on genetic polymorphism and divergence in wild yams (Dioscoreaceae: Dioscorea) by Xin Wang, Qing-Hong Feng, Zhi-Hua Zeng, Zhi-Qiang Zhang, Jie Cai, Gao Chen, De-Zhu Li, Hong Wang, Wei Zhou

“…Evolutionary transitions from sexual to asexual reproduction should have significant influences on genetic divergence and polymorphism at the genome level. Plant lineages with diverse reproductive systems provide opportunities to investigate this question using comparative approaches and studies of molecular evolution. …”
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The association of codon 392 polymorphism in ESR2 gene with breast cancer in Iran by Sakineh Abbasi, Samira Kalbasi

“…Epidemiological studies revealed that the pattern of age onset of breast cancer in the Middle East region differ from those in Caucasians. Therefore, genomic data for ESR2 (ER-?) is of the value in the clinical setting for that ethnic group and the aim of the current investigation is investigated whether polymorphisms in the ER-? …”
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STUDY OF Bacillus licheniformis BACTERIA AS A BIO-CONTROL AGENT IN REDUCING AFLATOXIN B1 TOXICITY IN DRIED GRAPE SAMPLES by H. Z. Hussein, E. K. Abdul-Karim, M. I. Alghannoum

“…The isolate with the highest toxin production was identified through nucleotide sequences deposited in the World Genomic Organization's Gene Bank under accession number OR192858. …”
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Inactivation of the CMAH gene and deficiency of Neu5Gc play a role in human brain evolution by Yuxin Liu, Jinhong Li, Qicai Liu

“…Abstract During human evolution, some genes were lost or silenced from the genome of hominins. These missing genes might be the key to the evolution of humans’ unique cognitive skills. …”
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ASGCL: Adaptive Sparse Mapping-based graph contrastive learning network for cancer drug response prediction. by Yunyun Dong, Yuanrong Zhang, Yuhua Qian, Yiming Zhao, Ziting Yang, Xiufang Feng

“…Personalized cancer drug treatment is emerging as a frontier issue in modern medical research. Considering the genomic differences among cancer patients, determining the most effective drug treatment plan is a complex and crucial task. …”
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Drosophila melanogaster as an alternative animal model in fat metabolism studies by Dilan de Silva, Mangala Gunatilake

“…It serves as one of the best alternative model organisms as it comprises most genes related to metabolism which are conserved in the human genome. The simplicity in genetics as well as their rapid life cycle makes it a righteous model organism that can be efficiently utilized in research. …”
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A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformations by Yorihiro Iwasaki, Monica Reyes, Harald Jüppner, Murat Bastepe

“…Abstract Genomic imprinting controls parental allele-specific gene expression via epigenetic mechanisms. …”
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Massively parallel variant-to-function mapping determines functional regulatory variants of non-small cell lung cancer by Congcong Chen, Yang Li, Yayun Gu, Qiqi Zhai, Songwei Guo, Jun Xiang, Yuan Xie, Mingxing An, Chenmeijie Li, Na Qin, Yanan Shi, Liu Yang, Jun Zhou, Xianfeng Xu, Ziye Xu, Kai Wang, Meng Zhu, Yue Jiang, Yuanlin He, Jing Xu, Rong Yin, Liang Chen, Lin Xu, Juncheng Dai, Guangfu Jin, Zhibin Hu, Cheng Wang, Hongxia Ma, Hongbing Shen

“…Abstract Genome-wide association studies have identified thousands of genetic variants associated with non-small cell lung cancer (NSCLC), however, it is still challenging to determine the causal variants and to improve disease risk prediction. …”
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XGBoost-enhanced ensemble model using discriminative hybrid features for the prediction of sumoylation sites by Salman Khan, Sumaiya Noor, Tahir Javed, Afshan Naseem, Fahad Aslam, Salman A. AlQahtani, Nijad Ahmad

“…Abstract Posttranslational modifications (PTMs) are essential for regulating protein localization and stability, significantly affecting gene expression, biological functions, and genome replication. Among these, sumoylation a PTM that attaches a chemical group to protein sequences—plays a critical role in protein function. …”
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SARS-COV-2 viral RNA detection through oligonucleotide-capped nanoporous anodic alumina supports. by Alba López-Palacios, María Nieves Aranda, Isabel Caballos, Andy Hernández-Montoto, Eva Calabuig, María Dolores Gómez-Ruiz, María Ángeles Tormo-Mas, Javier Pemán, Félix Sancenón, Ramón Martínez-Máñez, Elena Aznar, Estela Climent

“…The system is based on NAA that contains a fluorescent dye (Rhodamine B; RhB) and is capped with an oligonucleotide sequence that hybridize specifically a region of SARS-CoV-2 genome. In the presence of RNA from SARS-COV-2 virus, the oligonucleotide of the surface is displaced, uncapping the pores, and producing a delivery of RhB. …”
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Mapping naturally presented T cell antigens in medulloblastoma based on integrative multi-omics by Julia Velz, Lena K. Freudenmann, Gioele Medici, Marissa Dubbelaar, Malte Mohme, David R. Ghasemi, Jonas Scheid, Daniel J. Kowalewski, Angelica B. Patterson, Anna M. Zeitlberger, Katrin Lamszus, Manfred Westphal, Matthias Eyrich, Martina Messing-Jünger, Andreas Röhrig, Harald Reinhard, Kévin Beccaria, Rogeiro B. Craveiro, Beat M. Frey, Martin Sill, Sven Nahnsen, Marie Gauder, Konstantina Kapolou, Manuela Silginer, Tobias Weiss, Hans-Georg Wirsching, Patrick Roth, Michael Grotzer, Niklaus Krayenbühl, Oliver Bozinov, Luca Regli, Hans-Georg Rammensee, Elisabeth J. Rushing, Felix Sahm, Juliane S. Walz, Michael Weller, Marian C. Neidert

“…Despite recent advances in integrated genomics, the prognosis in children with high-risk medulloblastoma remains devastating, and new tumor-specific therapeutic approaches are needed. …”
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A network medicine approach to investigating ME/CFS pathogenesis in severely ill patients: a pilot study by Li-Yuan Hung, Chan-Shuo Wu, Chia-Jung Chang, Peng Li, Kimberly Hicks, Joshua J. Dibble, Braxton Morrison, Chimere L. Smith, Ronald W. Davis, Wenzhong Xiao

“…By utilizing a network analysis on whole genome sequencing (WGS) data from the Severely Ill Patient Study (SIPS), we identified ME/CFS-associated proteins and delineated the corresponding network-level module, termed the SIPS disease module, together with its relevant pathways. …”
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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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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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Emerging technologies of single-cell multi-omics by Yi June Kim, Koichi Takahashi

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Implications of intratumoral microbiota in tumor metastasis: a special perspective of microorganisms in tumorigenesis and clinical therapeutics by Lei Zhang, Xichu Duan, Yanhua Zhao, Dejiu Zhang, Yuan Zhang

“…Intratumoral microbiota can modulate tumor progression through multiple mechanisms, including regulating immune responses, inducing genomic instability and gene mutations, altering metabolic pathways, controlling epigenetic pathways, and disrupting cancer-related signaling pathways. …”
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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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Science et développement : l’action de François Gros au COPED by Auger, Pierre, Delseny, Michel

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The war inside your mind: unprotected brain battlefields and neuro-vulnerability by Robert McCreight

“… The 21st century featured explosive discoveries, inventions, and finely crafted technologies where the vaguely dangerous and ambiguous mix of genomics, neuroscience, nanotech, robotics, cyber, and other advanced scientific ventures leads to unknown and possibly unpleasant outcomes pose an acute dilemma. …”
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