Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study by Natalia Moćko, Marcin Rudzki, Zuzanna Miodońska, Julia Olesiak, Katarzyna Jochymczyk-Woźniak, Michał Kręcichwost

“…Background/Objectives: 22q11.2 microdeletion syndrome (22q11DS) is a genetic disease caused by aberration of chromosome 22 that results in some phenotypic features and developmental disorders. …”
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Molecular characterization of EBV-associated primary pulmonary lymphoepithelial carcinoma by multiomics analysis by Meiling Yang, Guixian Zheng, Fukun Chen, Haijuan Tang, Yaoyao Liu, Xuan Gao, Yu Huang, Zili Lv, Benhua Li, Maolin Yang, Qing Bu, Lixia Zhu, Pengli Yu, Zengyu Huo, Xinyan Wei, Xiaoli Chen, Yanbing Huang, Zhiyi He, Xuefeng Xia, Jing Bai

“…EBV integration, the aberrant expression of genes, as well as the loss of CNVs, may play a crucial role in the pathogenesis of pLEC. …”
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Chronic Inhibition of FAAH Reduces Depressive-Like Behavior and Improves Dentate Gyrus Proliferation after Chronic Unpredictable Stress Exposure by A. R. Tejeda-Martínez, J. M. Viveros-Paredes, G. V. Hidalgo-Franco, E. Pardo-González, V. Chaparro-Huerta, R. E. González-Castañeda, M. E. Flores-Soto

“…Symptoms of depressive disorders such as anhedonia and despair can be a product of an aberrant adaptation to stress conditions. Chronic unpredictable stress model (CUS) can generate an increase in the activity of the hypothalamic-pituitary-adrenal axis (HPA) and induce a reduction of neurotrophin signaling and the proliferation of neural progenitors in the adult dentate gyrus, together with increased oxidative stress. …”
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

“…Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing Zn2+ in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. …”
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Assessment of awareness of keratoconus and its relation to eye rubbing among Saudi Arabia population by Nuwayyir Abdullah Alqasimi, Lujain Hatim Aljohani, Renato Ambrósio, Renato Ambrósio, Renato Ambrósio, Renato Ambrósio, Renato Ambrósio, Bader Saad AlQahtani, Bader Saad AlQahtani, Nasser Saleh Al Haydar, Bdour Raja Alanazi, Danah Tariq Alfurayhan, Lina Sami Hussain Saber, Fatemah Saleh Alsalem, Nawaf Abdullah Alqahtani, Jose Manuel Vargas

“…BackgroundKeratoconus (KC) is a bilateral, asymmetric, progressive thinning of the cornea that causes a decrease in optical quality due to induced myopia, irregular astigmatism, and higher order aberrations. KC affects 1.38 per 1,000 individuals globally, with a higher prevalence in Asian and Middle Eastern populations. …”
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A new peptide inhibitor of C1QBP exhibits potent anti‐tumour activity against triple negative breast cancer by impairing mitochondrial function and suppressing homologous recombina... by Xingxing Li, Yue Wu, Min Zhang, Fengliang Wang, Hong Yin, Yanrong Zhang, Shuli Zhao, Jiehua Ma, Mingming Lv, Cheng Lu

“…Concomitantly, due to metabolic adaptability, we have observed an up‐regulation of glycolysis to compensate for OXPHOS inhibition. We observed an aberrant phenomenon wherein the hypoxia signalling pathway in tumour cells exhibited significant activation under normoxic conditions following PDBAG1 treatment. …”
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Unraveling the pathogenesis of Barrett’s esophagus and esophageal adenocarcinoma: the “omics” era by Alberto Barchi, Giuseppe Dell’Anna, Giuseppe Dell’Anna, Luca Massimino, Luca Massimino, Francesco Vito Mandarino, Edoardo Vespa, Edi Viale, Sandro Passaretti, Vito Annese, Vito Annese, Alberto Malesci, Alberto Malesci, Silvio Danese, Silvio Danese, Federica Ungaro

“…Early mutations of the TP53 gene, together with late aberrations of other oncosuppressor genes (SMAD4 or CKND2A), represent a genetic driving force behind BE. …”
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Individualized prediction of multi-domain intelligence quotient in bipolar disorder patients using resting-state functional connectivity by Xiaoyu Li, Wei Wei, Linze Qian, Xiaojing Li, Mingli Li, Ioannis Kakkos, Qiang Wang, Hua Yu, Wanjun Guo, Xiaohong Ma, George K. Matsopoulos, Liansheng Zhao, Wei Deng, Yu Sun, Tao Li

“…Regarding the contributed FCs, we observed a widespread distribution of internetwork FCs across somatomotor, visual, dorsal attention, and ventral attention networks, demonstrating their correspondence with aberrant FCs correlated to cognition deficits in BD patients. …”
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Altered O-Glycans in stimulated whole saliva from patients with primary Sjögren’s syndrome and non-pSS sicca by Sarah Kamounah, Kristina A. Thomsson, Christiane Elisabeth Sørensen, Eric Paul Bennett, Niclas G. Karlsson, Anne Marie Lynge Pedersen

“…The pathophysiological significance of the aberrant O-glycosylation needs further elucidation.…”
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Brain function abnormalities and inflammation in HIV-positive men who have sex with men with depressive disorders by Yang Zhang, Yang Zhang, Yihui He, Yihui He, Yuan Fang, Yuan Fang, Miaotian Cai, Guangqiang Sun, Guangqiang Sun, Rui Wang, Rui Wang, Jiaxin Zhen, Jiaxin Zhen, Yulin Zhang, Zhen Li, Zhen Li, Yundong Ma, Yundong Ma, Tong Zhang, Tong Zhang

“…BackgroundDepressive disorders are highly prevalent among people with HIV (PWH) and are related to aberrant inflammation and immune responses. However, there is currently a lack of investigation into the neurological, inflammatory, endocrine, and immune aspects of HIV-associated depressive disorders (HADD).MethodsThe study involved 33 HIV-positive men who have sex with men with depressive disorders (HADD group) and 47 without neuropsychiatric disorders (HIV control group). …”
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Endometrial factors in the implantation failure spectrum: protocol of a MUltidisciplinary observational cohort study in women with Repeated Implantation failure and recurrent Misca... by Servaas Morré, Ron van Golde, Andrea Romano, Linda Stevens Brentjens, Denise Habets, Janneke Den Hartog, Salwan Al-Nasiry, Lotte Wieten, Aafke Van Montfoort

“…Introduction Women with repeated implantation failure (RIF) and unexplained recurrent miscarriage (RM) are proposed to be at opposite ends of the implantation spectrum, with RM representing an overly receptive endometrium (implantation of genetically aberrant or poor-quality embryos) versus RIF representing an overly selective endometrium (no implantation even with good quality embryos). …”
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Emerging roles of mitochondrial sirtuin SIRT5 in succinylation modification and cancer development by Zhangmin Ke, Zhangmin Ke, Kaikai Shen, Li Wang, Hao Xu, Xia Pan, Zhenjue Qian, Yuting Wen, Tangfeng Lv, Xiuwei Zhang, Yong Song

“…The regulation of these activities can occur through either the same enzymatic activity acting on different substrates or distinct enzymatic activities targeting the same substrate. Aberrant expression of SIRT5 has been closely linked to tumorigenesis and disease progression; however, its role remains controversial. …”
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New Onset of Dermatomyositis/Polymyositis during Anti-TNF-α Therapies: A Systematic Literature Review by Alexandra Maria Giovanna Brunasso, Werner Aberer, Cesare Massone

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Long-Term Visual Quality and Pupil Changes after Small-Incision Lenticule Extraction for Eyes without Preoperative Cylinder Refraction by Xiaonan Yang, Qiting Feng, Quan Liu, Jianhui Chen, Pengxia Wan

“…Refractive outcomes, corneal curvature, aberrations, contrast sensitivity (CS), and pupil diameter were evaluated preoperatively, and 30 months postoperatively. …”
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Novel genes involved in vascular dysfunction of the middle temporal gyrus in Alzheimer’s disease: transcriptomics combined with machine learning analysis by Meiling Wang, Aojie He, Yubing Kang, Zhaojun Wang, Yahui He, Kahleong Lim, Chengwu Zhang, Li Lu

“…Identification of the molecules involved in vascular aberrance of the middle temporal gyrus would support elucidation of the mechanisms underlying Alzheimer’s disease and discovery of novel targets for intervention. …”
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Investigation of Association with First-Trimester Free Human Chorionic Gonadotropin-ß, Pregnancy - Associated Plasma Protein-A, and Adverse Pregnancy Outcomes by Gokhan Gonen, Yasam Kemal Akpak, Murat Muhcu

“…Patients with multiple pregnancies, chromosome aberrations, or fetal anomalies were excluded. Extreme values of corrected- pregnancy-associated plasma protein-A and free β-hCG, and their association with adverse pregnancy outcomes were analyzed. …”
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PDE4B promotes ferroptosis in nucleus pulposus cells and is involved in intervertebral disc degeneration by Weixing Xu, Rana Dhar, Danyang Zheng, Qi Peng, Yue Li, Sheng Mei, Huifang Tang

“…Our study suggested that aberrant PDE4B activation in NP tissues induces pathological changes in IDD mediated by ferroptosis, and PDE4 inhibitor reveres the process of IDD by suppressing ferroptosis, and has a synergic effect with ferroptosis inhibitor. …”
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Pheochromocytoma in Congenital Cyanotic Heart Disease by Carmen Aresta, Gianfranco Butera, Antonietta Tufano, Giorgia Grassi, Livio Luzi, Stefano Benedini

“…Studies on genome-wide transcription patterns have shown that many genetic alterations implicated in pheochromocytoma-paraganglioma (P-PGL) syndromes cluster in a common cellular pathway leading to aberrant activation of molecular response to hypoxia in normoxic conditions (the pseudohypoxia hypothesis). …”
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A Toxicological Evaluation of Methylliberine (Dynamine®) by Timothy S. Murbach, Róbert Glávits, John R. Endres, Amy E. Clewell, Gábor Hirka, Adél Vértesi, Erzsébet Béres, Ilona Pasics Szakonyiné

“…A (1) bacterial reverse mutation test, (2) in vitro mammalian chromosomal aberration test, (3) in vivo mammalian micronucleus test, and (4) 90-day repeated-dose oral toxicity study in rats with a 28-day recovery period were conducted. …”
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RNA sequence analysis landscape: A comprehensive review of task types, databases, datasets, word embedding methods, and language models by Muhammad Nabeel Asim, Muhammad Ali Ibrahim, Tayyaba Asif, Andreas Dengel

“…Deciphering information of RNA sequences reveals their diverse roles in living organisms, including gene regulation and protein synthesis. Aberrations in RNA sequence such as dysregulation and mutations can drive a diverse spectrum of diseases including cancers, genetic disorders, and neurodegenerative conditions. …”
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