Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T by Josef Finsterer, Claudia Stöllberger, Matthias Hasun, Korbinian Riedhammer, Mathias Wagner

“…Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is frequently associated with neuromuscular disorders or chromosomal defects. …”
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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. …”
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Homozygous mice with mutant protein FUS[1-359] overexpression: Innovative possibilities for ALS treatment by Nikita S. Zhunusov

“…Differences in the copy number of the transgenic insertion were also identified, revealing that homozygous animals exhibited increased expression of the mutant FUS protein in various structures of the central nervous system, consistent with existing literature on ALS pathogenesis. Conclusion: Mice with hyperexpression of the mutant FUS[1-359] protein represent a promising genetic model for evaluating therapeutic approaches to ALS treatment. …”
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Antisynthetase syndrome with anti-glycyl tRNA synthetase antibodies in a patient with axial spondyloarthritis treated with tumor necrosis factor-α inhibitors by Maria Iacovantuono, Chiara Bonini, Ernesto Di Biase, Vinicio Magliacani, Gian Domenico Sebastiani

“…Only in one case, ASSD manifested with lung involvement, without the possible implication of TNF-α inhibitors in the pathogenesis, as it occurred concurrently with spondyloarthritis. …”
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The Role of Limbal Epithelial Stem Cells in Regulating Corneal (Lymph)angiogenic Privilege and the Micromilieu of the Limbal Niche following UV Exposure by M. Notara, A. Lentzsch, M. Coroneo, C. Cursiefen

“…Previous reports showing changes occurring in limbal epithelium during pterygium pathogenesis suggest that there is a link to stem cell damage. …”
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Ataxin-2: a powerful RNA-binding protein by Lulu Li, Meng Wang, Lai Huang, Xiaoli Zheng, Lina Wang, Hongming Miao

“…This comprehensive exploration underscores the crucial role of ATXN2 in the pathogenesis of diseases and warrants further investigation by the scientific community. …”
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The Role of Autophagy in Erectile Dysfunction by Changjing Wu, Yang Xiong, Fudong Fu, Fuxun Zhang, Feng Qin, Jiuhong Yuan

“…Therefore, in this review, we aim to summarize the possible role of autophagy in ED from a cellular perspective, and we look forward to providing a new idea for the pathogenesis investigation and clinical treatment of ED in the future.…”

PPARγ as a Potential Target to Treat Airway Mucus Hypersecretion in Chronic Airway Inflammatory Diseases by Yongchun Shen, Lei Chen, Tao Wang, Fuqiang Wen

“…AMH contributes to the pathogenesis of chronic airway inflammatory diseases, and it is associated with reduced lung function and high rates of hospitalization and mortality. …”
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Preclinical research models for endometrial cancer: development and selection of animal models by Yang Xue, Wei Shi, Bing Lun, Meilin Kan, Mengling Jia, Yuelin Wu, Li Yang, Li Yang

“…Experimental animal models are crucial for studying the pathogenesis, advancing diagnostic methods, and developing new treatments. …”
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Research progress of circRNAs in bone-related diseases by Xianming Hua, Lingfeng Yu, Hao Zhu, Yan Zhu, Gentao Fan, Guangxin Zhou, Guangxin Zhou, Guangxin Zhou

“…Studies have shown that circRNAs play an irreplaceable role in the pathogenesis, disease progression, diagnosis, and targeted therapy of motor system tumors (osteosarcoma), metabolic diseases (osteoporosis), and degenerative diseases (osteonecrosis of the femoral head, osteoarthritis, intervertebral disc degeneration). …”
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Roles of Pyruvate, NADH, and Mitochondrial Complex I in Redox Balance and Imbalance in β Cell Function and Dysfunction by Xiaoting Luo, Rongrong Li, Liang-Jun Yan

“…In this paper, we review the roles of pyruvate, NADH, and complex I in insulin secretion and hypothesize that complex I plays a crucial role in the pathogenesis of β cell dysfunction in the diabetic pancreas. …”
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Сhronic relapsing inflammatory optic neuropathy: diagnostic strategies and treatment (literature review) by T.I. Nehrych, M.B. Kopchak, S.Ya. Kyryliuk

“…An analysis of foreign works published in the E-Library, CrossRef, PubMed, Web of Science, Scopus databases was carried out in order to systematize data on the etiology, pathogenesis, clinical manifestations, diagnostic criteria, differential diagnosis and treatment of this pathological condition. …”
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Agranulocytosis Associated with Topiramate: A Case Report and Review of Published Cases by Saroj Lohani, Niranjan Tachamo, Salik Nazir, Anthony Donato

“…Next steps would be further research on the pathogenesis of agranulocytosis associated with topiramate and creation of registry for data synthesis.…”
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Mechanism of Acupuncture and Moxibustion on Chronic Prostatitis/Chronic Pelvic Pain Syndrome: A Narrative Review of Animal Studies by Xiaoling Wu, Kai Cheng, Chang Xu, Shaoming Liu, Qianhui Sun, Zhiwen Yang, Xingye Dai, Na Li

“…At present, the disease’s aetiology and pathogenesis are unclear, and there is also no effective treatment for it. …”
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Sex hormones and allergies: exploring the gender differences in immune responses by Jesús Alberto Gutiérrez-Brito, José Álvaro Lomelí-Nieto, José Francisco Muñoz-Valle, Edith Oregon-Romero, Jazz Alan Corona-Angeles, Jorge Hernández-Bello

“…Moreover, studies have suggested that female sex hormones amplify memory immune responses, which may lead to an excessive immune response impacting the pathogenesis, airway hyperresponsiveness, inflammation of airways, and mucus production of allergic diseases. …”
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Stomach cancer risk factors: the modern concept by V. M. Khomyakov, A. D. Yermoshina, S. S. Pirogov, A. B. Ryabov

“…Intestinal type SC and diffuse type SC have various pathogenesis and risk factors. Risk factor estimation provides effective prophylaxis of the disease, and also to reveal high risk groups for preventive and screening programs.…”
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Applications and enhancement strategies of ROS-based non-invasive therapies in cancer treatment by Qiuyan Guo, Yingnan Tang, Shengmei Wang, Xinhua Xia

“…Reactive oxygen species (ROS) play a crucial role in the pathogenesis of cancer. Non-invasive therapies that promote intracellular ROS generation, including photodynamic therapy (PDT), sonodynamic therapy (SDT), and chemodynamic therapy (CDT), have emerged as novel approaches for cancer treatment. …”
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Shorter Leukocyte Telomere Length in Relation to Presumed Nonalcoholic Fatty Liver Disease in Mexican-American Men in NHANES 1999–2002 by Janet M. Wojcicki, David Rehkopf, Elissa Epel, Philip Rosenthal

“…Longitudinal studies are necessary to evaluate the role of telomere length as a potential predictor to assess pathogenesis of NALFD in Mexicans.…”
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Advanced Glycation End Products Play Adverse Proinflammatory Activities in Osteoporosis by Roberta Sanguineti, Alessandra Puddu, François Mach, Fabrizio Montecucco, Giorgio Luciano Viviani

“…In the last twenty years, advanced glycation end products (AGEs) have been shown to be critical mediators both in the pathogenesis and development of osteoporosis and other chronic degenerative diseases related to aging. …”
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Receptor for Advanced Glycation End Products and Its Involvement in Inflammatory Diseases by Yaw Kuang Chuah, Rusliza Basir, Herni Talib, Tung Hing Tie, Norshariza Nordin

“…In this review, we will summarize current understandings and lines of evidence on the molecular mechanisms through which RAGE signaling contributes to the pathogenesis of the aforementioned inflammation-associated conditions.…”
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