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

“…To study the clinical features, genetic etiology, and the correlation between phenotype and genotype of neonatal diabetes mellitus (NDM) in Chinese patients. …”
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Electroacupuncture may protect pulmonary dysplasia in offspring with perinatal nicotine exposure by altering maternal gut microbiota and metabolites by Yana Xie, Yang Fang, Yitian Liu, Bo Ji, Reiko Sakurai, Yifei Wang, Hewen Li, Ling Zhang, Le Wu, Tingting Guo, Ye Quan, Virender K. Rehan

“…However, the beneficial effects of EA on offspring pulmonary function (FVC, PEF, PIF, and Cdyn) and lung morphology (alveolar number and MLI) were lost after maternal gut microbiota depletion.ConclusionThese findings suggest that EA may exert its therapeutic effects on PNE-induced lung phenotype by altering maternal gut microbiota. The likely mechanism involves the associated improvement in serum SCFA levels in both mother and offspring, as well as the upregulation of SCFA receptors in the lung tissue of offspring.…”
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Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO mouse models-Translation to Fabry disease patients. by Abirami Kugadas, Pietro Artoni, Wanida Ruangsiriluk, Meng Zhao, Natalia Boukharov, Rizwana Islam, Dmitri Volfson, Katayoun Derakhchan

“…The objective of this study is to characterize cardiac phenotype in GlaKO and G3Stg/GlaKO mice using echocardiography. …”
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Differences in the intrahepatic expression of immune checkpoint molecules on T cells and natural killer cells in chronic HBV patients by Lucile Dumolard, Marie-Noelle Hilleret, Marie-Noelle Hilleret, Charlotte Costentin, Charlotte Costentin, Marion Mercey-Ressejac, Marion Mercey-Ressejac, Nathalie Sturm, Nathalie Sturm, Theophile Gerster, Thomas Decaens, Thomas Decaens, Evelyne Jouvin-Marche, Patrice N. Marche, Zuzana Macek Jilkova, Zuzana Macek Jilkova

“…Our findings showed that the HBeAg status is linked to a distinct immune phenotype of intrahepatic CD8+ T cells and NK cells characterized by high expression of ICMs, particularly 4-1BB. …”
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Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing by Jeong-Min Kim, Hye-Won Cho, Dong Mun Shin, Oc-Hee Kim, Jihyun Kim, Hyeji Lee, Gang-Hee Lee, Joon-Yong An, Misun Yang, Heui Seung Jo, Ja-Hyun Jang, Yun Sil Chang, Hyun-Young Park, Mi-Hyun Park

“…Among them, 10 variants of seven coding genes were selected as possible causal variants by variant pathogenicity, genotype–phenotype analysis, and a multidisciplinary team. Finally, functional validation of six genes including RYR3, NRXN1, FREM2, CSMD1, RARS1, and NOTCH1, revealed various phenotypes in zebrafish models that aligned with those observed in each patient. …”
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Single-cell transcriptomics reveals the heterogeneity and function of mast cells in human ccRCC by Xiyu Song, Xiyu Song, Xiyu Song, Jianhua Jiao, Jianhua Jiao, Jiayang Qin, Wei Zhang, Weijun Qin, Weijun Qin, Shuaijun Ma, Shuaijun Ma

“…Although the proportion of activated MCs was not significantly altered in ccRCC tissues compared with normal tissues, this finding highlights a shift in the MC phenotype from CTSGhighMCs to more activated VEGFA+MCs, providing a potential therapeutic target for inhibiting ccRCC progression.…”
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Neuron-Specific Glycine Metabolism Links Transfer RNA Epitranscriptomic Regulation to Complex Behaviors by Jennifer Blaze, Viviana Dolores Evans, Jessica Abigail Feria Pliego, Petr Unichenko, Behnam Javidfar, Soeren Heissel, Hanan Alwaseem, Zachary Pennington, Denise Cai, Henrik Molina, Christian Henneberger, Schahram Akbarian

“…None of these phenotypes were observed in mice treated with tunicamycin for chemoactivation of integrative stress response pathways or in mice genetically engineered for decreased glycine tRNA gene dosage. …”
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Integrating single-cell RNA-seq and bulk RNA-seq to explore prognostic value and immune landscapes of methionine metabolism-related signature in breast cancer by Yanxian Gao, Ziyu Feng, Hailong Zhao, Xinghai Liu, Muyu Zhu, Xiafei Yu, Xiaoan Liu, Xian Wu, Jing Tao

“…Subsequent in vitro experiments demonstrated that silencing APOC1 reduced the generation of tumor-associated macrophages (TAMs) with an M2 phenotype while significantly decreasing the proliferation, invasion, and migration of MDA-MB-231 and MDA-MB-468 breast cancer cell lines.ConclusionWe established a prognostic risk score consisting of genes associated with methionine metabolism, which helps predict prognosis and response to treatment in BC. …”
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P-glycoprotein-independent cytotoxic effects of 5-aminopyrazole in L1210 leukemia cells by Lucia Sofrankova, Jana Spaldova, Pavol Stefik, Branislav Pavilek, Dusan Bortnak, Lucia Pavlikova, Ivana Zidekova, Daniel Vegh, Viktor Milata, Albert Breier, Zdena Sulova

“…The heightened sensitivity of R cells to 5-AP, despite P-gp expression, likely results from an altered phenotype due to vincristine-induced stress rather than from P-gp inhibition alone. …”
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Acinetobacter baumannii represses type VI secretion system through a manganese-dependent small RNA-mediated regulation by Somok Bhowmik, Avik Pathak, Shivam Pandey, Kuldip Devnath, Abhiroop Sett, Nishant Jyoti, Timsy Bhando, Jawed Akhter, Saurabh Chugh, Ramandeep Singh, Tarun Kumar Sharma, Ranjana Pathania

“…Previously, it was demonstrated that A. baumannii ATCC 17978 cells switch from T6− to T6+ phenotype, resulting in the loss of antibiotic resistance conferred by plasmid pAB3. …”
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Significance of Glioma Stem-Like Cells in the Tumor Periphery That Express High Levels of CD44 in Tumor Invasion, Early Progression, and Poor Prognosis in Glioblastoma by Masahiro Nishikawa, Akihiro Inoue, Takanori Ohnishi, Shohei Kohno, Shiro Ohue, Shirabe Matsumoto, Satoshi Suehiro, Daisuke Yamashita, Saya Ozaki, Hideaki Watanabe, Hajime Yano, Hisaaki Takahashi, Riko Kitazawa, Junya Tanaka, Takeharu Kunieda

“…Cultured GSCs obtained from the tumor periphery were highly invasive and have enhanced migration phenotype, both of which were markedly inhibited by CD44 knockdown. …”
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Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2 by Charlotte Laurfelt Munch Rasmussen, Signe Frost Frederiksen, Christian Würtz Heegaard, Maj Schneider Thomsen, Eva Hede, Bartosz Laczek, Jakob Körbelin, Daniel Wüstner, Louiza Bohn Thomsen, Markus Schwaninger, Ole N. Jensen, Torben Moos, Annette Burkhart

“…Methods Six weeks old Npc2−/− mice were intravenously injected with the AAV-BR1-NPC2 vector. Composite phenotype scores and behavioral tests were assessed for the following 6 weeks and visually documented. …”
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Cellular rejuvenation protects neurons from inflammation-mediated cell death by Sienna S. Drake, Abdulshakour Mohammadnia, Aliyah Zaman, Christine Gianfelice, Kali Heale, Adam M.R. Groh, Elizabeth M.-L. Hua, Matthew A. Hintermayer, Yuancheng Ryan Lu, David Gosselin, Stephanie Zandee, Alexandre Prat, Jo Anne Stratton, David A. Sinclair, Alyson E. Fournier

“…Collectively, these data reveal an aging-like phenotype in neurons under pathological neuroinflammation and support the possibility that rejuvenation therapies or senotherapeutic agents could offer a direct avenue for neuroprotection in neuroimmune disorders.…”
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Exendin-4 Improves Diabetic Kidney Disease in C57BL/6 Mice Independent of Brown Adipose Tissue Activation by Shu Fang, Yingying Cai, Fuping Lyu, Hongbin Zhang, Chunyan Wu, Yanmei Zeng, Cunxia Fan, Shaozhou Zou, Yudan Zhang, Ping Li, Ling Wang, YaomingXue, Meiping Guan

“…However, exendin-4 could improve lipid accumulation and myofibroblast-like phenotype transition of mesangial cells induced by oleate via activating the AMPK pathway. …”
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Robotic-assisted surgery and kinematic alignment in total knee arthroplasty (RASKAL study): a protocol of a national registry-nested, multicentre, 2×2 factorial randomised trial as... by Ian A Harris, Samuel J MacDessi, Aziz Bhimani, Darren B Chen, Ian Harris, Michelle Lorimer, David Parker, Tamara Hooper, Richard Boyle, Jonathan Mulford, Daniel Franks, Gregory C Wernecke, Durga Bastiras, Emma Heath, Anthony Leong, Brett Fristch, David Penn, George Kirsh, John Limbers, Julian Yu, Maurice Guzman, Peter McEwen

“…The contribution of each patient’s unique coronal plane alignment of the knee phenotype to primary and secondary PROMs will be investigated. …”
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Machine learning models for dementia screening to classify brain amyloid positivity on positron emission tomography using blood markers and demographic characteristics: a retrospec... by Noriyuki Kimura, Kotaro Sasaki, Teruaki Masuda, Takuya Ataka, Mariko Matsumoto, Mika Kitamura, Yosuke Nakamura, Etsuro Matsubara

“…Model 3 (demographic characteristics, blood test results, MMSE subscores) and Model 4 (Model 3 and ApoE4 phenotype) showed improved performance with a mean ROC AUC (SD) of 0.73 (0.01) and 0.76 (0.01), respectively. …”
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Clinical features of early multiple sclerosis by I. Čelpačenko, R. Stankevičiūtė, M. Malciūtė, R. Balnytė

“…Delayed treatment increases the risk of disability, therefore, establishing a clear phenotype of early MS can help in a more efficient diagnostic process. …”
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Genes Involved in the Transcriptional Regulation of Pluripotency Are Expressed in Malignant Tumors of the Uterine Cervix and Can Induce Tumorigenic Capacity in a Nontumorigenic Cel... by Graciela Ruiz, Heriberto A. Valencia-González, Delia Pérez-Montiel, Felipe Muñoz, Rodolfo Ocadiz-Delgado, Jorge Fernández-Retana, Carlos Pérez-Plasencia, Osbaldo Reséndis-Antonio, Patricio Gariglio, Alejandro García-Carrancá

“…And, more importantly, its exogenous expression in a nontumorigenic cell line is sufficient to induce a tumorigenic phenotype; furthermore, the differential expression of this transcription factor distinguishes tumor tissue and normal tissue in cervical samples.…”
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The analysis of risk factors for diabetic kidney disease progression: a single-centre and cross-sectional experiment in Shanghai by Shan Huang, Juan Du, Nan Zhao, Wen Liu, Fan Hu, Xiaoxu Ge, Xiaohong Jiang, Wenfang Peng, Lisha Shen, Lili Xia

“…Subgroup analysis revealed that in patients with a short duration of diabetes (<8 years), WBC (OR=1.306, p<0.001, 95% CI 1.157 to 1.475) and TG (OR=1.188, p=0.033, 95% CI 1.014 to 1.393) were risk factors for DKD,fT3 (OR=0.544, p=0.002, 95% CI 0.367 to 0.804) was a protective factor for DKD; whereas for patients with disease course more than 8 years, age (OR=1.026, Pp=0.012, 95%CI=95% CI[ 1.006– to 1.048]) was identified as the only risk factor for DKD and fT3 (OR=0.036, Pp=0.017, 95%CI=95% CI[ 0.439– to 0.922]) was a protective factor for DKD.Conclusion The focus of attention should especially be on patients with a prolonged course of T2DM, and those with comorbid hypertension and hypertriglyceridaemia waist phenotype. More potential clinical indexes such as thyroid function and inflammatory indicators might be considered as early warning factors for DKD in T2DM. …”
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Repetitive antigen stimulation in the periphery dictates the composition and recall responses of brain-resident memory CD8+ T cells by Madison R. Mix, Stephanie van de Wall, Mohammad Heidarian, Elizabeth A. Escue, Cori E. Fain, Lecia L. Pewe, Lisa S. Hancox, Sahaana A. Arumugam, Cassie M. Sievers, Vladimir P. Badovinac, John T. Harty

“…However, the impact of repeated peripheral viral infection on the generation, phenotype, localization, and recall responses of brain TRM remains elusive. …”
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