Genome-based analysis of the genetic pattern of black sheep in Qira sheep by Wen Zhou, Xiaopeng Li, Xuechen Zhang, Lijun Zhu, Yuwei Peng, Cheng-long Zhang, Zhipeng Han, Ruizhi Yang, Xinyu Bai, Quanfeng Wang, Yuejun Zhao, Shudong Liu

“…Conclusion In this paper, Qira sheep could not differentiate the genetic structure of this population by wool color, and obtained 71 SNPs related to black wool. Detection of mutation sites on the TYRP1 gene affecting hair color change provides a basis for black sheep line selection as well as breed conservation.…”
Get full text

Case report: an unusual long-term evolution of a diffuse midline glioma, H3K27 altered by Michael Griessmair, Michael Griessmair, Claire Delbridge, Claus Zimmer, Eva Mayr, Arthur Wagner, Julian Canisius, Marie-Christin Metz, Benedikt Wiestler, Benedikt Wiestler

“…Molecular neuropathology revealed the diagnosis of diffuse midline glioma with a H3K27M mutation WHO (World Health Organization) CNS (central nervous system) grade 4. …”
Get full text

An Update on African Trypanocide Pharmaceutics and Resistance. by Keneth Iceland, Kasozi, MacLeod, Ewan Thomas, Ntulume, Ibrahim, Welburn, Susan Christina

“…Diminazene aceturate resistance is due to mutations that alter the activity of P2, TeDR40 (T. b. evansi). …”
Get full text

A minimal gene set characterizes TIL specific for diverse tumor antigens across different cancer types by Zhen Zeng, Tianbei Zhang, Jiajia Zhang, Shuai Li, Sydney Connor, Boyang Zhang, Yimin Zhao, Jordan Wilson, Dipika Singh, Rima Kulikauskas, Candice D. Church, Thomas H. Pulliam, Saumya Jani, Paul Nghiem, Suzanne L. Topalian, Patrick M. Forde, Drew M. Pardoll, Hongkai Ji, Kellie N. Smith

“…Abstract Identifying tumor-specific T cell clones that mediate immunotherapy responses remains challenging. Mutation-associated neoantigen (MANA) -specific CD8+ tumor-infiltrating lymphocytes (TIL) have been shown to express high levels of CXCL13 and CD39 (ENTPD1), and low IL-7 receptor (IL7R) levels in many cancer types, but their collective relevance to T cell functionality has not been established. …”
Get full text

Effective Facial Expression Recognition System Using Artificial Intelligence Technique by Imad S. Yousif, Tarik A. Rashid, Ahmed S. Shamsaldin, Sabat A. Abdulhameed, Abdulhady Abas Abdullah

“…ANNS are inspired by the neural architecture of human brain capable of learning and recognizing patterns in unchartered data after trained examples, on the other hand GAs come from fundamental principles underlying natural selection perform optimization process based-on evolutionary methods which includes fitness evaluation, comparison, selection, crossover, and mutation. The research is an effort to mitigate the problems pertaining with conventional methods, like overfitting and generalization fault in order design FER model which has potential for performing much more accurately. …”
Get full text

Prevalence and antimicrobial resistance of three clones (ST1223, ST2198, ST2250) of Staphylococcus argenteus clinical isolates in northern Japan by Meiji Soe Aung, Noriko Urushibara, Mitsuyo Kawaguchiya, Nobuhide Ohashi, Mina Hirose, Kenji Kudo, Masahiko Ito, Nobumichi Kobayashi

“…These isolates had intact haemolysin genes and promoter regions; however, a novel deletion mutation in hlg-component A was detected in some haemolytic and non-haemolytic isolates. …”
Get full text

Identification of HOXA9 methylation as an epigenetic biomarker predicting prognosis and guiding treatment choice in acute myeloid leukemia by Fei Xie, Ting-juan Zhang, Xin-long Zhang, Zi-jun Xu, Liang Qiao, Yun Wang, Yang-jing Zhao, Jun Qian, Jing-dong Zhou

“…HOXA overexpression caused by genetic alterations, such as KMT2A rearrangements, NUP98- fusions and FLT3-ITD mutations, is frequently identified in AML. However, very few studies determined the DNA methylation-mediated epigenetic regulation of the HOXA cluster genes in AML. …”
Get full text

In silico evaluation of missense SNPs in cancer-associated Cystatin A protein and their potential to disrupt Cathepsin B interaction by Shafaat Hossain, Omar Hamza Bin Manjur, Mst Sharmin Sultana Shimu, Tamanna Sultana, Mustafizur Rahman Naim, Shahariar Siddique, Abdullah Al Mamun, Md Miftaur Rahman, Md Abu Saleh, Md Rakibul Hasan, Tania Rahman

“…Cystatin A (CSTA) functions as a cysteine protease inhibitor by forming tight complexes with the cathepsins. Pathogenic mutations in the CSTA gene can disrupt this interaction, potentially leading to physiological ailments. …”
Get full text

Adjunctive diagnostic tool for histopathological classification of congenital mesoblastic nephroma based in molecular genetic findings by Hiroshi Hamada, Kenichi Kohashi, Takeshi Iwasaki, Mikiko Hashisako, Yuko Hino, Masahiro Fukuhara, Amane Kamouchi, Naonori Kawakubo, Tatsuro Tajiri, Yoshinao Oda

“…Results PCA revealed differences in mutation patterns between the EGFR-ITDs and NTRK fusion tumor groups. …”
Get full text

A comprehensive analysis of molecular characteristics of hot and cold tumor of gastric cancer by Chenxi Lv, Tianwei Chen, Jiangtao Li, Yuqiang Shan, Hong Zhou

“…Methods Consensus clustering was utilized to classify GC patients into distinct immune states, followed by an in-depth analysis of differences in mutation profiles, copy number variations, and DNA methylation patterns. …”
Get full text

Adverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database by Xi-Feng Wang, Lu-Ri Bao, Ta-La Hu, Rui-Feng Xu, Wu-Niri Gao, Jing-Yuan Wang, Jian-Rong Zhao, Zhen-Li Fu, Shu-Fang Wang, Yan Meng

“…Some PTs, such as aplastic anemia, gene mutation, mastication disorder, kidney fibrosis, BK virus infection, abnormal neutrophil count, C3 glomerulopathy, neuroblastoma, and glomerulonephritis membranoproliferative, were also detected outside the instructions. …”
Get full text

Occurrence of macrolides resistance in Legionella pneumophila ST188: Results of the Belgian epidemiology and resistome investigation of clinical isolates by Charlotte Michel, Fedoua Echahidi, Geraldine De Muylder, Max Sewell, Ian Boostrom, Olivier Denis, Owen B. Spiller, Denis Pierard

“…A total of 283 clinical isolates were typed by core genome multi-locus sequence typing (cgMLST). Acquired genes or mutations triggering resistance were extracted from all of them. …”
Get full text

Aplikasi Pertimbangan Wisata di Pulau Lombok dengan Metode Fuzzy Mamdani & Algoritma Genetika by Zainul Harir, Ida Bagus Ketut Widiartha, Royana Afwani

“…Genetic Algorithm (GA) is used in providing optimal budget allocation in traveling on Lombok IslandThe results of testing with manual calculations and different defuzzification models have 100% accurate, the application of GA obtained optimal budget allocation on crossover probability (pc) and mutation probability (pm) combination with (pc) 0.7 and (pm) 0.2. …”
Get full text

Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer by Angelica Nogueira Rodrigues, Andreza Karine de Barros Almeida Souto, Diocésio Alves Pinto de Andrade, Larissa Müller Gomes, Sandra Satie Koide, Renata de Godoy e Silva, Bruno Batista de Souza, Juliana Doblas Massaro, Andréia Cristina de Melo, Andrea Morais Borges, Camila Giro, Carlos Augusto Vasconcelos de Andrade, Cesar Martins da Costa, Daniel Luiz Gimenes, Eduardo Caminha Bandeira de Mello, Fernanda Cesar de Oliveira, Frederico Müller de Toledo Lima, Gabriel Lima Lopes, Gustavo de Oliveira Bretas, Gustavo Guerra Jacob, Herika Lucia da Costa Silva, Juliana Ferrari Notaro, Lara Ladislau Alves, Marcos Veloso Moitinho, Mirian Cristina da Silva, Roberto Abramoff, Thais Amaral da Cunha Rauber, Rodrigo Dienstmann, Fernanda Christtanini Koyama

“…BackgroundAlong with BRCA mutation status, homologous recombination deficiency (HRD) testing is a prognostic and predictive biomarker for poly-ADP-ribose polymerase (PARP) inhibitor therapy indication in high-grade epithelial ovarian, fallopian tube, or peritoneal cancer. …”
Get full text

Phage vB_Kpn_HF0522: Isolation, Characterization, and Therapeutic Potential in Combatting K1 Klebsiella pneumoniae Infections by Yan T, Wang Q, Ma C, Teng X, Gong Z, Chu W, Zhou Q, Liu Z

“…The bacterial growth rate remained largely unchanged after the phage resistance mutation, but mice infected with the mutant strain showed significantly higher survival rates than those infected with the wild-type strain. vB_Kpn_HF0522 increased the survival rate of infected G. mellonella from 12.5% to 75%, inhibited incisional surgical site infections and alleviated inflammatory response in mice.Conclusion: These findings indicate that vB_Kpn_HF0522 has significant potential for treating specific bacterial infections, and may serve as an antimicrobial agent for research and clinical anti-infective therapy.Keywords: phage vB_Kpn_HF0522, phage therapy, Klebsiella pneumoniae, phage resistance, incisional surgical site infection, biofilm…”
Get full text

Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

“…Using siRNA to knock down GRP75 mitigates cellular calcium overload and mitochondrial damage induced by the SERPING1 mutation. Conclusion Based on our findings, we propose that the detection of intracellular Ca2+ concentration could serve as a valuable biomarker for predicting acute attacks of HAE in patients. …”
Get full text

Exploring the functional role of POU5F1 using CRISPR RNP electroporation of zygote (CRISPR-EZ) in buffaloes by Meeti Punetha, Dharmendra Kumar, Suman Choudhary, Sheetal Saini, Kamlesh Kumari Bajwa, Surabhi Sharma, Manu Mangal, P. S. Yadav, T. K. Datta

“…We targeted the buffalo POU5F1 gene using the abovementioned parameters, which caused nonsense-mediated mRNA decay and led to complete knockout (KO) of the POU5F1 gene. We analyzed the mutation rates and mosaic mutations using tracking of Indels by decomposition (TIDE) software. …”
Get full text

A prognostic signature of Glutathione metabolism-associated long non-coding RNAs for lung adenocarcinoma with immune microenvironment insights by Junxi Hu, Junxi Hu, Shuyu Tian, Shuyu Tian, Qingwen Liu, Qingwen Liu, Jiaqi Hou, Jiaqi Hou, Jun wu, Jun wu, Xiaolin Wang, Xiaolin Wang, Yusheng Shu, Yusheng Shu

“…High-risk patients showed increased tumor mutation burden (TMB) and stemness, emphasizing the potential of personalized immunotherapy to improve survival outcomes.…”
Get full text

Personalized prediction of anticancer potential of non-oncology drugs through learning from genome derived molecular pathways by Xiaobao Dong, Huanhuan Liu, Ting Tong, Liuxing Wu, Jianhua Wang, Tianyi You, Yongjian Wei, Xianfu Yi, Hongxi Yang, Jie Hu, Haitao Wang, Xiaoyan Wang, Mulin Jun Li

“…Herein we present CHANCE, a supervised machine learning model designed to predict the anticancer activities of non-oncology drugs for specific patients by simultaneously considering personalized coding and non-coding mutations. Utilizing protein–protein interaction networks, CHANCE harmonizes multilevel mutation annotations and integrates pharmacological information across different drugs into a single model. …”
Get full text

Altered functional brain connectivity in Dyt1 knock-in mouse models by R. Z. Adury, B. J. Wilkes, P. Girdhar, Y. Li, D. E. Vaillancourt, D. E. Vaillancourt, D. E. Vaillancourt

“…In this study, we aimed to elucidate the impact of the GAG TorsinA mutation present globally and when restricted to the cortical and hippocampal neurons. …”
Get full text