Revealing the biological features of the axolotl pancreas as a new research model by Hui Ma, Hui Ma, Hui Ma, Guangcong Peng, Yan Hu, Binbin Lu, Binbin Lu, Yiying Zheng, Yingxian Wu, Weimin Feng, Yu Shi, Xiangyu Pan, Li Song, Ina Stützer, Yanmei Liu, Jifeng Fei, Jifeng Fei, Jifeng Fei

“…The mutation of Pdx1 resulted in hyperglycemia and a significant reduction in pancreatic cell mass, including a complete loss of endocrine cells, although it did not lead to a lethal phenotype.DiscussionThis study examines the axolotl pancreas, highlighting the conservation of pancreatic development. …”
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A genomic duplication spanning multiple P450s contributes to insecticide resistance in the dengue mosquito Aedes aegypti by Bacot, Tiphaine, Haberkorn, Chloe, Guilliet, Joseph, Cattel, Julien, Kefi, Mary, Nadalin, Louis, Filee, Jonathan, Boyer, Frederic, Gaude, Thierry, Laporte, Frederic, Tutagata, Jordan, Vontas, John, Dusfour, Isabelle, Bonneville, Jean-Marc, David, Jean-Philippe

“…The involvement of this P450 duplication in deltamethrin survival was supported by a significant phenotypic response to the P450 inhibitor piperonyl butoxide together with genotype-phenotype association and RNA interference. …”
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Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Carla Gianelli, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Luis Allende Martínez, Pilar Nozal Aranda, Pilar Nozal Aranda, Pilar Nozal Aranda, Carmen Cámara Hijón, Carmen Cámara Hijón, Carmen Cámara Hijón, Eduardo López Granados, Eduardo López Granados, Eduardo López Granados, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, María Bravo García-Morato, María Bravo García-Morato, María Bravo García-Morato

“…Molecular validation was required only in the cases of genes of uncertain significance (GUS), high homology pseudogenes or incompatible clinical phenotype. Seven patients showed variants outside canonical positions. …”
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MSCs Contribute to the Conversion of Ly6Chigh Monocytes into Ly6Clow Subsets under AMI by Wenbin Lu, Genshan Ma, Zulong Sheng, Qingjie Wang, Lijuan Chen, Junhua Qi, Ronghui Shi, Jingjing Ji, Zhenjun Ji, Qiming Dai

“…NR4A1 is a novel target for modulating the inflammatory phenotype of monocytes during atherogenesis. Objectives. …”
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Brief Report: Clinical Characteristics and Outcomes of Patients With Thoracic SMARCA4-Deficient Undifferentiated Tumors by Alissa J. Cooper, MD, Andrea Arfe, PhD, Biagio Ricciuti, MD, Andréanne Gagné, MD, PhD, Lynette M. Sholl, MD, Alessandro Di Federico, MD, Mark M. Awad, MD, PhD, Mihaela Aldea, MD, PhD, Maria Rosa Ghigna, MD, Miruna Grecea, MD, Phoebe Clark, MS, Jamie E. Chaft, MD, Mark G. Kris, MD, Gregory J. Riely, MD, Charles M. Rudin, MD, PhD, Ibiayi Dagogo-Jack, MD, Mari Mino-Kenudson, MD, Lingzhi Hong, MD, PhD, Neda Kalhor, MD, Natalie Vokes, MD, Anita Bowman, MS, Soo-Ryum Yang, MD, Natasha Rekhtman, MD, PhD, Adam J. Schoenfeld, MD

“…Methods: We collected clinical, pathologic, and demographic variables from five institutions for patients whose tumors met criteria for SMARCA4-UTs (undifferentiated phenotype and loss of SMARCA4 (BRG1) by immunohistochemistry). …”
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Retinoblastoma-binding Protein 9 Suppresses Intestinal Inflammation and Inflammation-induced Tumorigenesis in MiceSummary by Kensuke Hamada, Yuki Nakanishi, Yu Muta, Mayuki Omatsu, Kosuke Iwane, Munehiro Ikeda, Jiayu Chen, Yoko Masui, Naoki Aoyama, Nobukazu Agatsuma, Go Yamakawa, Takahiro Utsumi, Hiroki Kitamoto, Makoto Okabe, Yoshiro Itatani, Takumi Adachi, Koubun Yasuda, Shuji Yamamoto, Akihisa Fukuda, Etsushi Kuroda, Masaki Ohmuraya, Kazutaka Obama, Seiichi Hirota, Hiroki Ikeuchi, Kenji Nakanishi, Hiroshi Seno

“…RNA sequencing was analyzed to identify the phenotype alternation upon Rbbp9 deletion. In addition, genetic and pharmacological inhibition of the Janus kinase (JAK)/signal transducer and activator of transcription 1 (STAT1) pathway was performed. …”
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Dynamic conditioning of porcine kidney grafts with extracellular vesicles derived from urine progenitor cells: A proof‐of‐concept study by Perrine Burdeyron, Sébastien Giraud, Maryne Lepoittevin, Nina Jordan, Sonia Brishoual, Maïté Jacquard, Virginie Ameteau, Nadège Boildieu, Estelle Lemarie, Jonathan Daniel, Frédéric Martins, Nicolas Mélis, Marine Coué, Raphaël Thuillier, Henri Leuvenink, Luc Pellerin, Thierry Hauet, Clara Steichen

“…Porcine UPCs were successfully isolated from urine and fully characterized as well as their EVs which were found of expected size/phenotype. EVs injection during HMP alone, NMP alone, or both was feasible and safe and did not impact perfusion parameters. …”
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Single cell profiling of circulating autoreactive CD4 T cells from patients with autoimmune liver diseases suggests tissue imprinting by Anaïs Cardon, Thomas Guinebretière, Chuang Dong, Laurine Gil, Sakina Ado, Pierre-jean Gavlovsky, Martin Braud, Richard Danger, Christoph Schultheiß, Aurélie Doméné, Perrine Paul-Gilloteaux, Caroline Chevalier, Laura Bernier, Jean-Paul Judor, Cynthia Fourgeux, Astrid Imbert, Marion Khaldi, Edouard Bardou-Jacquet, Laure Elkrief, Adrien Lannes, Christine Silvain, Matthieu Schnee, Florence Tanne, Fabienne Vavasseur, Lucas Brusselle, Sophie Brouard, William W. Kwok, Jean-François Mosnier, Ansgar W. Lohse, Jeremie Poschmann, Mascha Binder, Jérôme Gournay, Sophie Conchon, Pierre Milpied, Amédée Renand

“…Using a mouse model, we demonstrate that, following antigen recognition in the liver, CD4 T cells acquire an exhausted phenotype, play a crucial role in liver damage, and are controlled by immune checkpoint pathways. …”
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Podophyllotoxin mediates hepatic toxicity via the C5a/C5aR/ROS/NLRP3 and cGMP/PKG/mTOR axis in rats based on toxicological evidence chain (TEC) concept by phosphoproteomic analysis by Chuanxin Liu, Xiaobin Huang, Jiao Kong, Xuejiao Li, Yuming Wang, Fangfang Zhang, Jiajia Duan

“…This approach involves a tiered search for evidence of Harmful Ingredients Evidence (HIE), Injury Phenotype Evidence (IPE), Adverse Outcomes Evidence (AOE), and Toxic Events Evidence (TEE) during the development of PPT-induced hepatotoxicity, thereby constructing a guiding toxicology evidence chain. …”
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Genome data based deep learning identified new genes predicting pharmacological treatment response of attention deficit hyperactivity disorder by Yilu Zhao, Zhao Fu, Eric J. Barnett, Ning Wang, Kangfuxi Zhang, Xuping Gao, Xiangyu Zheng, Junbin Tian, Hui Zhang, XueTong Ding, Shaoxian Li, Shuyu Li, Qingjiu Cao, Suhua Chang, Yufeng Wang, Stephen V. Faraone, Li Yang

“…Based on genotype data of medication-naïve patients with ADHD who received pharmacological treatments for 12 weeks, the current study performed GWAS using the percentage changes in ADHD-RS score as phenotype. Then, DL models were constructed to predict percentage changes in symptom scores using genetic variants selected based on four different genome-wide P thresholds (E-02, E-03, E-04, E-05) as inputs. …”
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Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy by Yu Chen, Xuan Wang, Jie Dai, Li Zhou, Xuefeng Xia, Jun Guo, Xue Bai, Lu Si, Bixia Tang, Chuanliang Cui, Xiaoting Wei, Xinan Sheng, Siming Li, Zhihong Chi, Lili Mao, Bin Lian, Xieqiao Yan, Yan Kong, Caili Li, Xuan Gao, Lirui Tang, Linzi Sun, Zhonghui Qi, Zelong Xu

“…The multiplex immunohistochemical analysis also demonstrated higher CD8+ T-cell infiltration in PMME than in NEMM.Conclusions PMME is an outlier of mucosal melanoma showing a malicious phenotype but a particularly high response rate to ICB because of its distinct molecular characteristics. …”
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SECTM1 acts as an immune-related biomarker of poor prognosis and promotes cancer progression by modulating M2 macrophage polarization in esophageal squamous cell carcinoma by Pengzhou Kong, Pengzhou Kong, Pengzhou Kong, Ye Jiao, Ye Jiao, Meng Sun, Meng Sun, Zhinan Zhou, Zhinan Zhou, Yingying Zhang, Yingying Zhang, Xin Yang, Xin Yang, Jing Ren, Jing Ren, Mengyuan Yang, Mengyuan Yang, Yanyan Dong, Yanyan Dong, Yanyan Dong, Bin Song

“…Furthermore, its overexpression promoted macrophage polarization towards the M2-like phenotype and promoted the migration of M2-like macrophage cells and C-C Motif Chemokine Ligand 5 (CCL5) was the key mediator in the pro-cancer effect of SECTM1. …”
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Loop33 × 123 CAR-T targeting CD33 and CD123 against immune escape in acute myeloid leukemia by Haotian Ma, Zhifeng Yan, Runxia Gu, Yingxi Xu, Shaowei Qiu, Haiyan Xing, Kejing Tang, Zheng Tian, Qing Rao, Min Wang, Jianxiang Wang

“…All CAR-T cells were generated by lentivirus transduction of T cells from healthy donors. Phenotype detection was evaluated on day 7 concerning activation, exhaustion, and subtype proportions. …”
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Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry by Antonio Di Muzio, Corrado Angelini, Tiziana Mongini, Liliana Vercelli, Lucia Morandi, Giovanni Antonini, Gabriele Siciliano, Lucio Santoro, Maurizio Moggio, Giacomo Brisca, Luisa Villa, Giuliano Tomelleri, Francesco Sera, Carmelo Rodolico, Lorenzo Maggi, Giulia Ricci, Angela Berardinelli, Elena Pegoraro, Sabrina Ravaglia, Chiara Fiorillo, Michelangelo Cao, Rossella Tupler, Ana Nikolic, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Maria Chiara D'Amico, Maria Grazia D'Angelo, Claudio Bruno

“…The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity.…”
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Hepatitis D virus infection triggers CXCL9-11 upregulation in hepatocytes and liver infiltration of CXCR3+ CD4 T cells by Jan-Hendrik Bockmann, Lena Allweiss, Annika Volmari, David da Fonseca Araújo, Matin Kohsar, Anastasia Hyrina, Janine Kah, Zhijuan Song, Josolyn Chan, Katja Giersch, Tassilo Volz, Marc Lütgehetmann, Jeffrey J. Wallin, Dmitry Manuilov, Meghan M. Holdorf, Simon P. Fletcher, Ansgar W. Lohse, Antonio Bertoletti, Julian Schulze zur Wiesch, Maura Dandri

“…The data of this study set hereby the basis for future studies analysing phenotype and function of intrahepatic T cells in CHD.…”
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Dipropyl phthalate induces craniofacial chondrogenic defects in zebrafish embryos by Qinyuan Shen, Weitao Hu, Fasheng Liu, Si Dong, Xinya Peng, Yihang Zhong, Chao Chen, Yuhua Zuo, Chenkai Ge, Weirong Li, Wenwen Zha, Zhijun Ye, Zigang Cao, Lan Liao

“…At 80 hpf, it was observed that exposure to DPRP resulted in craniofacial developmental malformations, which were mainly characterized by the shortening of the mandibular pharyngeal arches and the inability of the accompanying artery to elongate forward. The resulting phenotype was similar to that of micrognathia syndrome. …”
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LGR4 is essential for maintaining β-cell homeostasis through suppression of RANK by Joanna Filipowska, Zelda Cisneros, Sneha S. Varghese, Nancy Leon-Rivera, Peng Wang, Randy Kang, Geming Lu, Yate-Ching Yuan, Hung-Ping Shih, Supriyo Bhattacharya, Sangeeta Dhawan, Adolfo Garcia-Ocaña, Nagesha Guthalu Kondegowda, Rupangi C. Vasavada

“…The impaired β-cell phenotype in Lgr4cko mice was rescued in Lgr4/Rank double ko (dko) mice. …”
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Clinical-grade extracellular vesicles derived from umbilical cord mesenchymal stromal cells: preclinical development and first-in-human intra-articular validation as therapeutics f... by Aliosha I. Figueroa-Valdés, Patricia Luz-Crawford, Yeimi Herrera-Luna, Nicolás Georges-Calderón, Cynthia García, Hugo E. Tobar, María Jesús Araya, José Matas, Darío Donoso-Meneses, Catalina de la Fuente, Jimena Cuenca, Eliseo Parra, Fernando Lillo, Cristóbal Varela, María Ignacia Cádiz, Rolando Vernal, Alexander Ortloff, Gino Nardocci, Verónica Castañeda, Catalina Adasme-Vidal, Maximiliano Kunze-Küllmer, Yessia Hidalgo, Francisco Espinoza, Maroun Khoury, Francisca Alcayaga-Miranda

“…In vitro, UC-MSC-sEV polarized macrophages to an anti-inflammatory M2b-like phenotype, through STAT1 modulation, indicating their potential to create an anti-inflammatory environment in the affected joints. …”
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Genetic insights into psychotic major depressive disorder: bridging the mood-psychotic disorder spectrumResearch in context by Thuy-Dung Nguyen, Joeri J. Meijsen, Robert Sigström, Ralf Kuja-Halkola, Ying Xiong, Arvid Harder, Kaarina Kowalec, Joëlle A. Pasman, Carolina Scarpa, Elin Hörbeck, Lina Jonsson, Sara Hägg, Niamh Mullins, Kevin S. O’Connell, Christina Dalman, Dorte Helenius, Richard Zetterberg, Henrik Larsson, Paul Lichtenstein, Ole A. Andreassen, Thomas Werge, Alfonso Buil, Mikael Landén, Patrick F. Sullivan, Yi Lu

“…These findings advance our understanding of the aetiology of psychotic MDD and contribute to the limited body of evidence on this phenotype by utilising large-scale population-based data. …”
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AdipoRon ameliorates the progression of heart failure with preserved ejection fraction via mitigating lipid accumulation and fibrosis by Wuping Tan, Yijun Wang, Siyi Cheng, Zhihao Liu, Mengjie Xie, Lingpeng Song, Qinfang Qiu, Xiaofei Wang, Zeyan Li, Tianyuan Liu, Fuding Guo, Jun Wang, Xiaoya Zhou

“…Conclusions: AdipoRon ameliorated the HFpEF phenotype by promoting myocardial fatty acid oxidation, decreasing fatty acid transport, and inhibiting fibrosis via the upregulation of AdipoR and the activation of AdipoR1/AMPKα and AdipoR2/PPARα-related downstream pathways. …”
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