Machine learning identification of a novel vasculogenic mimicry-related signature and FOXM1’s role in promoting vasculogenic mimicry in clear cell renal cell carcinoma by Chao Xu, Sujing Zhang, Jingwei Lv, Yilong Cao, Yao Chen, Hao Sun, Shengtao Dai, Bowei Zhang, Meng Zhu, Yuepeng Liu, Junfei Gu

“…Results: We examined VRG mutation and expression patterns in ccRCC at the gene level, identifying two distinct molecular clusters. …”
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Dynamics of blood microsatellite instability (bMSI) burden predicts outcome of a patient treated with immune checkpoint inhibitors: a case report of hyperprogressive disease by Daria Kravchuk, Alexandra Lebedeva, Alexandra Lebedeva, Olesya Kuznetsova, Olesya Kuznetsova, Alexandra Kavun, Anastasiia Taraskina, Ekaterina Belova, Ekaterina Belova, Ekaterina Belova, Tatiana Grigoreva, Tatiana Grigoreva, Egor Veselovsky, Vladislav Mileyko, Vladislav Mileyko, Vladislav Nikulin, Lidia Nekrasova, Alexey Tryakin, Mikhail Fedyanin, Mikhail Fedyanin, Mikhail Fedyanin, Maxim Ivanov, Maxim Ivanov

“…Sequential sampling of the patient’s plasma demonstrated an increase in MSI burden (bMSI), which was found to correlate with the increase of driver mutation burden one month after starting nivolumab, and hyperprogressive disease. …”
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O-GlcNAcylation attenuates ischemia-reperfusion-induced pulmonary epithelial cell ferroptosis via the Nrf2/G6PDH pathway by Liuqing Yang, Hexiao Tang, Jin Wang, Dawei Xu, Rui Xuan, Songping Xie, Pengfei Xu, Xinyi Li

“…Rescue experiments proved that Nrf2 knockdown or Nrf2-T334A (O-GlcNAcylation site) mutation abolished the protective effect of ferroptosis resistance. …”
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Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China by Bingyan Cao, Chunxiu Gong, Di Wu, Chaoxia Lu, Fang Liu, Xiaojing Liu, Yingxian Zhang, Yi Gu, Zhan Qi, Xiaoqiao Li, Min Liu, Wenjing Li, Chang Su, Xuejun Liang, Mei Feng

“…Among 18 PNDM cases, 6 (33.3%) had known KATP channel mutations (KATP-PNDM). There were six non-KATP mutations, five novel mutations, including INS, EIF2AK3 (n=2), GLIS3, and SLC19A2, one known EIF2AK3 mutation. …”
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Comparison of sialic acid content in bovine and buffalo milk and meat by Michela Contò, Simona Rinaldi, Sebastiana Failla

“…Neu5Ac differs from Neu5Gc by a single oxygen atom, but humans cannot synthesize the Neu5Gc due to a genetic mutation. Thus, Neu5Gc causes a human antibody response, which promotes the inflammatory processes. …”
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Perbandingan Arsitektur Convolutional Neural Network Pada Klasifikasi Pneumonia, COVID-19, Lung Opacity, dan Normal Menggunakan Citra Sinar-X Thoraks by Agung Wahyu Setiawan

“…Although there has been a decrease in the number of cases of Covid-19, however, there are still some new cases due to virus mutation. Besides Covid-19, the prevalence of pneumonia is still high. …”
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High p16INK4A expression in glioblastoma is associated with senescence phenotype and better prognosis by Soon Sang Park, Tae Hoon Roh, Yoshiaki Tanaka, Young Hwa Kim, So Hyun Park, Tae-Gyu Kim, So Yeong Eom, Tae Jun Park, In-Hyun Park, Se-Hyuk Kim, Jang-Hee Kim

“…Previous studies have identified a few prognostic markers for GBM, including the methylation status of O6-methylguanine-DNA methyltransferase (MGMT) promoter, TERT promoter mutation, EGFR amplification, and CDKN2A/2B deletion. …”
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Long‐term survival outcome with tyrosine kinase inhibitors and surgical intervention in patients with metastatic or recurrent gastrointestinal stromal tumors: A 14‐year, single‐cen... by Jwa Hoon Kim, Min‐Hee Ryu, Changhoon Yoo, Heejung Chae, Hana Na, Moyoul Beck, Beom Su Kim, Moon‐Won Yoo, Jeong Hwan Yook, Byung Sik Kim, Ki‐Hun Kim, Chan Wook Kim, Yoon‐Koo Kang

“…Young age, smaller tumor size at the initiation of imatinib, KIT exon 11 mutation, surgical intervention, and period 2 were favorable factors for PFS and OS. …”
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Construction of the bromodomain-containing protein-associated prognostic model in triple-negative breast cancer by Wei Chen, Yushuai Yu, Chenxi Wang, Zirong Jiang, Xiewei Huang, Yidan Lin, Hongjing Han, Qing Wang, Hui Zhang

“…In both risk groups, TP53 exhibited the highest mutation frequency. The expression of KRT6A, ABCA1, EDNRB, and CTSD went decreased progressively in pseudotime. …”
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ROS anchor PAMPs-mediated extracellular HMGB1 self-association and its dimerization enhances pro-inflammatory signaling by Man Sup Kwak, Myeonggil Han, Yong Joon Lee, Seoyeon Choi, Jeonghwa Kim, In Ho Park, Jeon-Soo Shin

“…Despite treatment with H2O2, LPS, or LTA, HMGB1 dimerization was blocked in presence of Cys106 residue mutation, the ROS scavenger NAC, and the thiol-reducing agent DTT. …”
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Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening by Anand Ramani, Giovanni Pasquini, Niklas J. Gerkau, Vaibhav Jadhav, Omkar Suhas Vinchure, Nazlican Altinisik, Hannes Windoffer, Sarah Muller, Ina Rothenaigner, Sean Lin, Aruljothi Mariappan, Dhanasekaran Rathinam, Ali Mirsaidi, Olivier Goureau, Lucia Ricci-Vitiani, Quintino Giorgio D’Alessandris, Bernd Wollnik, Alysson Muotri, Limor Freifeld, Nathalie Jurisch-Yaksi, Roberto Pallini, Christine R. Rose, Volker Busskamp, Elke Gabriel, Kamyar Hadian, Jay Gopalakrishnan

“…Patient-derived Hi-Q brain organoids recapitulate distinct forms of developmental defects: primary microcephaly due to a mutation in CDK5RAP2 and progeria-associated defects of Cockayne syndrome. …”
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Efficient Acquisition of Fully Human Antibody Genes against Self-Proteins by Sorting Single B Cells Stimulated with Vaccines Based on Nitrated T Helper Cell Epitopes by Liangliang Jiang, Tao Jiang, Jianhua Luo, Yanliang Kang, Yue Tong, Xiaoda Song, Xiangdong Gao, Wenbing Yao, Hong Tian

“…The analysis of antibody genes showed that sorted B cells underwent the extensive somatic mutation of the antibody genes. We randomly selected eight genes for cloning, six of which expressed antibodies that can bind to HER2. …”
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Ethnobotanical survey of medicinal plants used in management of breast cancers in Qatar by Rasha.S.Abo El Alaa, Hend Al-Jaber, Fatima Al Zahraa Chokor, Abdullah A. Shaito, Layla Al-Mansoori

“…The literature survey also uncovered that most plants are reported to induce apoptosis through specific pathways, while others showed chemo-sensitization effects and cancer-induced mutation prevention. Moreover, some of the recommended plants have advanced to clinical studies. …”
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Peripheral neuropathy in the phase 3 ASPEN study of Bruton tyrosine kinase inhibitors for Waldenström macroglobulinemia by Benjamin M. Heyman, Stephen S. Opat, Björn E. Wahlin, Meletios-Athanasios C. Dimopoulos, Jorge J. Castillo, Alessandra Tedeschi, Constantine S. Tam, Christian Buske, Roger G. Owen, Véronique Leblond, Judith Trotman, Gisoo Barnes, Wai Y. Chan, Jingjing Schneider, Heather Allewelt, Aileen Cohen, Jeffrey V. Matous

“…Overall, 35 patients (71.4%) experienced resolution of PN symptoms, with a median time to resolution of 10.1 months (range, 1-46.8). In cohort 1 (MYD88 mutation), the median time to PN symptom resolution was 4.6 months (range, 1.1-46.8) with zanubrutinib and 14.1 months (range, 1-44) with ibrutinib. …”
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A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

“…The potential deleterious effects and pathogenicity of the variant were predicted using bioinformatics tools such as Mutation Taster, PROVEAN, and SIFT. Additionally, protein stability was evaluated using I-Mutant, and 3D protein structures were modeled with I-TASSER. …”
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HIV-1 transcription start sites usage and its impact on unspliced RNA functions in people living with HIV by Saiful Islam, Frank Maldarelli, Olga A. Nikolaitchik, Zetao Cheng, Robert Gorelick, Maria A. Nikolaitchik, Vinay K. Pathak, Wei-Shau Hu

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Bisecting GlcNAc modification of vesicular GAS6 regulates CAFs activation and breast cancer metastasis by Jing Li, Xueting Ren, Lin Cao, Kaixiang Min, Meng Wang, Shuai Lin, Lei Lei, Zengqi Tan, Xiaoliang Cheng, Xiang Li, Feng Guan

“…The impact of bisecting GlcNAc modification on GAS6 expression and function was analyzed through protein degradation and N-glycosylation site mutation. The effect of activated CAFs on breast cancer metastasis was evaluated using western blotting and transwell assays. …”
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Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis by U. Gomez-Pinedo, J.A. Matías-Guiu, L. Torre-Fuentes, P. Montero-Escribano, L. Hernández-Lorenzo, V. Pytel, P. Maietta, S. Alvarez, I. Sanclemente-Alamán, L. Moreno-Jimenez, D. Ojeda-Hernandez, N. Villar-Gómez, M.S. Benito-Martin, B. Selma-Calvo, L. Vidorreta-Ballesteros, R. Madrid, J. Matías-Guiu

“…The study of HOG cells transfected with the mutation showed that the protein does not reach the cell membrane, but rather accumulates in the cytoplasm, particularly in the endoplasmic reticulum and near the nucleus; this suggests that, in the cells presenting the mutation, TNFRSF1 does not act as a transmembrane protein, which may alter its signaling pathway. …”
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Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country by Gabriela Pataccini, Andrés Elia, Gonzalo Sequeira, Luisa Ambrosio, Marcela Coianis, Caroline A. Lamb, Paola A. Rojas, Paula Martínez Vázquez, Javier Burruchaga, Eunice Spengler, Silvia I. Vanzulli, Martin Abba, Claudia Lanari

“…BC-AR687 carried a PIK3CA (C420R) mutation and was sensitive to alpelisib and mTOR inhibitors. …”
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High expression of SULF1 is associated with adverse prognosis in breast cancer brain metastasis by Yitong Li, Tingting Feng, Qinghong Wang, Yue Wu, Jue Wang, Wenlong Zhang, Qi Kong

“…In the metastatic breast cancer population, SULF1 ranked top among the 16 DEGs with the highest mutation rate, reaching 11%, primarily due to amplification. …”
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