RSK1 is an exploitable dependency in myeloproliferative neoplasms and secondary acute myeloid leukemia by Tim Kong, Angelo B. A. Laranjeira, Christopher T. Letson, LaYow Yu, Shuyang Lin, Jared S. Fowles, Daniel A. C. Fisher, Sherwin Ng, Wei Yang, Fan He, Minyoung Youn, Kailen Mark, Ana San Jose, Jingxian Liu, Alexander B. Kim, Maggie J. Cox, Mary C. Fulbright, Aarthi Jayanthan, Gerrit Los, Stacey L. Rentschler, Li Ding, Kathleen M. Sakamoto, Sandra E. Dunn, Grant A. Challen, Stephen T. Oh

“…Supported by mass cytometry (CyTOF) profiling, we reveal aberrant networks of PI3K/AKT/mTOR signalling and NFκB-mediated hyper-inflammation. …”
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Improvement in Impaired Social Cognition but Not Seizures by Everolimus in a Child with Tuberous Sclerosis-Associated Autism through Increased Serum Antioxidant Proteins and Oxidan... by Kunio Yui, George Imataka, Hitomi Sasaki, Yohei Kawasaki, Tohru Okanshi, Ryoichi Shiroki, Shigemi Yoshihara

“…Serum TAP levels gradually decreased from baseline to the lowest value at 16 weeks and then increased at 24 weeks, showing a trend toward decreased total score of the Aberrant Behavior Checklist. This study revealed that everolimus treatment improved impaired social cognition with increased serum levels of the copper mediator (Cp) and iron mediator (Tf) via homeostatic control of mTOR activity accompanied by overlap of the oxidant-antioxidant system. …”
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Stimulation of TLR4 by LMW-HA Induces Metastasis in Human Papillary Thyroid Carcinoma through CXCR7 by Shipeng Dang, Yongde Peng, Lei Ye, Yanan Wang, Zhongqing Qian, Yuqing Chen, Xiaojing Wang, Yunzhi Lin, Xiaomei Zhang, Xiyan Sun, Qiong Wu, Yiji Cheng, Hong Nie, Min Jin, Huanbai Xu

“…In this study, we found that receptor of LMW-HA, TLR4, was aberrantly overexpressed in PTC tissues and cell line W3. …”
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The bile acid chenodeoxycholic acid associates with reduced stroke in humans and mice by Vera F. Monteiro-Cardoso, Xin Yi Yeo, Han-Gyu Bae, David Castano Mayan, Mariam Wehbe, Sejin Lee, Kumar Krishna-K, Seung Hyun Baek, Leon F. Palomera, Lik Hang Wu, Leroy S. Pakkiri, Sangeetha Shanmugam, Kai Ping Sem, Mun Geok Yew, Matthew P. Parsons, Michael R. Hayden, Leonard L.L. Yeo, Vijay K. Sharma, Chester Drum, Elisa A. Liehn, Sreedharan Sajikumar, Svend Davanger, Dong-Gyu Jo, Mark Y.Y. Chan, Benjamin Y.Q. Tan, Sangyong Jung, Roshni R. Singaraja

“…Elevated glutamate-induced excitotoxicity mediated by aberrant N-methyl-D-aspartate receptor (NMDAR) overactivation contributes to neuronal death in ischemic stroke. …”
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Development and Characterisation of a Novel NF-κB Reporter Cell Line for Investigation of Neuroinflammation by Marie-Theres Zeuner, Thomas Vallance, Sakthivel Vaiyapuri, Graeme S. Cottrell, Darius Widera

“…Aberrant activation of the transcription factor NF-κB, as well as uncontrolled inflammation, has been linked to autoimmune diseases, development and progression of cancer, and neurological disorders like Alzheimer’s disease. …”
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Long-term deprescription in chronic pain and opioid use disorder patients: Pharmacogenetic and sex differences by Muriel Javier, Escorial Mónica, Margarit César, Barrachina Jordi, Carvajal Cristian, Morales Domingo, Peiró Ana M.

“…Effectiveness (< 50 mg per day of morphine equivalent daily dose without any aberrant opioid use behaviour) and safety (number of side-effects) were analysed in relation to sex differences and pharmacogenetic markers impact [OPRM1 genotype (rs1799971) and CYP2D6 phenotypes]. …”
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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells by Benjamin M. Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Anson Cheng, Steven S. Eamegdool, Elizabeth Farnsworth, Bruce Bennetts, John R. Grigg, Seo-Kyung Chung, Anai Gonzalez-Cordero, Robyn V. Jamieson

“…Minigene studies confirmed the splicing aberration. Results from this study led to reclassification of the synonymous variant to a pathogenic variant, providing the affected patients with access to RPE65 gene replacement therapy.…”
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UDP-Induced Phagocytosis and ATP-Stimulated Chemotactic Migration Are Impaired in STIM1−/− Microglia In Vitro and In Vivo by Hye Min Lim, Heo Woon, Jung Woo Han, Yoshihiro Baba, Tomohiro Kurosaki, Min Goo Lee, Joo Young Kim

“…Here, we report that STIM1−/− murine microglia lost store-operated calcium influx and displayed aberrant immunological functions. Microglial functions regulated by chronic and global Ca2+i changes were reduced significantly, including cytokine releases and opsonin-dependent phagocytosis. …”
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Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age by Rumi Katashima, Mari Matsumoto, Yuka Watanabe, Maki Moritani, Ichiro Yokota

“…We also detected a whole exon deletion in the HNF1β gene and an exon 5–6 aberration in the GCK gene, each in one proband (4.4%). …”
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Normative Parameters of Gastrocnemius Muscle Stiffness and Associations with Patient Characteristics and Function by Larisa R Hoffman, Shane L Koppenhaver, Cameron W MacDonald, Johnny M Herrera, Joshua Streuli, Zachary L Visco, Nicole Wildermuth, Stephanie R Albin

“… # Conclusion Identifying normative parameters and variance estimates of muscle stiffness in asymptomatic individuals may help guide diagnosing and managing individuals with aberrant muscle function. # Level of Evidence 2b Individual Cohort Study # Clinical Relevance *What is known about the subject:* Muscle stiffness has been shown to be related to individuals with pathology such as Achilles tendinopathy; however, research is sparse regarding normative values of muscle stiffness. …”
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Adamantinoma-Like Ewing’s Family Tumor of the Sino Nasal Region: A Case Report and a Brief Review of Literature by Pushpa Mahadevan, Subramaniam Ramkumar, V. P. Gangadharan

“…Our case reinforces the fact that a subset of EFTs can show histomorphologic and immunohistochemical features of aberrant epithelial differentiation. These cases are difficult to differentiate from usual epithelial malignancies which occur in this region. …”
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Identification of GBN5 as a molecular biomarker of pan-cancer species by integrated multi-omics analysis by Qian Guo, Xinxin Zhong, Zihan Dang, Baiquan Zhang, Zixin Yang

“…Mutations, somatic copy number alterations, and DNA methylation lead to its aberrant expression. GBN5 expression is associated with many clinical features. …”
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Comprehensive analysis of ceRNA Networks in UCEC: Prognostic and therapeutic implications. by Li Fan, Mengqiu Lan, Xiaohua Wei, Lili Wei, Liuhong Yang, Liuying Nong, Jiajia Wei, Jingjing Li, Wenjie Huang

“…Survival analyses confirmed the prognostic significance of this network, with univariate Cox regression demonstrating a strong association between its aberrant expression and overall prognosis in UCEC. …”
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Augmented Feedback Response Prediction by Peak Vertical Ground Reaction Force in Adolescent Female Athletes by Hannah Jaime, Drew Rutherford, Becky Heinert, C. Nate Vannatta, Sherwin Toribio, Thomas W Kernozek

“…# Background and Purpose Anterior cruciate ligament (ACL) tears often occur due to non-contact mechanisms in landing within females. Impact loading and aberrant landings may be addressed with augmented feedback training. …”
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Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants by Si-Hua Chang, Jie-Yuan Jin, Yi-Qiao Hu, Run-Yan Wang, Rong Xiang, Xia Wang

“…Minigenes results revealed that variant c.1658-3_1676del produced an aberrant spliceosome assembly. Conclusions We identified two novel CNKSR2 variants in MRXSHG families, expanding the variant spectrum of CNKSR2, enriching MRXSHG-related phenotypes, and contributing to genetic counseling for MRXSHG patients.…”
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Upregulated Solute Carrier SLC39A1 Promotes Gastric Cancer Proliferation and Indicates Unfavorable Prognosis by Dan Yu, Yong Chen, Ming Luo, Yanjin Peng, Shengen Yi

“…In vitro and in vivo assays demonstrated that overexpressing SLC39A1 could promote gastric cancer growth and invasion, while silencing SLC39A1 led to opposite effects. Conclusions. Aberrant high-SLC39A1 expression can serve as an independent unfavorable prognostic factor for gastric adenocarcinoma. …”
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An Intriguing Case of Multisystem Inflammatory Syndrome in an Adult Patient with Remote Infection with COVID-19 and Acute Chlamydia by Madhuri Chandnani, William A. Charini, Anil Jha, Chetan Dodhia, Eduardo Haddad

“…We suspect that C. trachomatis infection in this instance may have triggered an aberrant immune response that was shaped by prior exposure to SARS-CoV-2. …”
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Comparative gametogenesis and genomic signatures associated with pollen sterility in the seedless mutant of grapevine by Siddhi Chavan, Satish Phalake, Sujata Tetali, Vitthal T. Barvkar, Ravindra Patil

“…RNAseq and genome sequencing data collectively indicate parthenocarpic seedless phenotype due to aberrant developmental and physiological processes involved in pollen formation, maturation and germination in the seedless mutant of ARI 516. …”
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Resistance mechanisms involved in complex immunity of wheat against rust diseases by E. S. Skolotneva, E. A. Salina

“…The presence of these genes in the genotype ensures the interruption of early pathogenesis through the following mechanisms: disorientation and branching of the germ tube; formation of aberrant fungal penetration structures (appressorium, substomatal vesicle); accumulation of callose in mesophyll cell walls. …”
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Looking beyond the ER, PR, and HER2: what’s new in the ARsenal for combating breast cancer? by Tryambak Pratap Srivastava, Ruby Dhar, Subhradip Karmakar

“…This intricate interplay is further complicated by the presence of constitutively expressed AR splice variants (AR-Vs) that drive resistance to AR-targeting therapies through structural rearrangements in the domains and activation of aberrant signaling pathways. Although AR-targeting drugs, initially developed for prostate cancer (PCa), have shown promise in AR-positive breast cancer, significant gaps remain in understanding AR’s precise functions and therapeutic potential. …”
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