Article
Multidisciplinary Sciences
Victor D. Martinez, Adam P. Sage, Brenda C. Minatel, Erin A. Marshall, E. Magda Price, Daiana D. Becker-Santos, Wendy P. Robinson, Wan L. Lam
Summary: The study reveals that 297 piRNAs are preferentially expressed in the human placenta, with some being expressed at higher levels compared to testes samples. The majority of placental piRNAs originate from a single locus, distinct from canonical cluster locations associated with transposable element silencing. Additionally, 15 of the highest-expressed placental piRNAs map to the DLK1-DIO3 locus, suggesting a link to placental biology.
SCIENTIFIC REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Natalia Baulina, Ivan Kiselev, Olga Favorova
Summary: Multiple sclerosis (MS) is a chronic autoimmune neurodegenerative disease of the central nervous system that results from the interplay between genetic and non-genetic risk factors. Epigenetics serves as a crucial link between these factors, particularly in the manifestation of parent-of-origin effects. Imprinted genes may play a key role in the pathogenesis of MS, with disturbances in their expression potentially contributing to the development of the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Rahia Mashoodh, Lisa C. Hulsmann, Frances L. Dearden, Nozomi Takahashi, Carol Edwards, Anne C. Ferguson-Smith
Summary: In this study, imprinting genes were used as a model system to investigate the relationship between the parental origin of chromosomes, the localization of genes within the cell nucleus, and their active expression. The results indicate that there is a small preference for the paternal chromosome to be closer to the periphery, but there is a significant correlation between transcription and distance to the edge of the nucleus for the Gtl2/Meg3 gene. Furthermore, a chromosome nearer the periphery is just as likely to express the gene as the chromosome further away. These findings suggest that the parental origin of the chromosome may not be as important as the transcription of the gene in defining the position of the imprinted region within the nucleus.
Article
Veterinary Sciences
Hai-Qiang Xie, Yan-Jun Hou, Xiao Dan Li, Guang-Dong Xing, Jie Chen, Yin-Xue Xu
Summary: This study investigated the effects of Dio3os on growth, development, and reproductive activity in mice, revealing that Dio3os impacts the growth, development, and reproductive activity of mice by monitoring the expression levels of associated genes.
PAKISTAN VETERINARY JOURNAL
(2021)
Review
Cell Biology
Jie Xu, Xia Wang, Chunming Zhu, Kefeng Wang
Summary: This review discusses the molecular mechanisms of MEG3 in different tumors and future challenges for the diagnosis and treatment of cancers through MEG3.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Pharmacology & Pharmacy
Chang Qin, Ying Cheng, Xiaona Shang, Ruijun Wang, Ruonan Wang, Xiaoji Hao, Sisi Li, Ye Wang, Yachen Li, Xiaohui Liu, Jing Shao
Summary: This study revealed that BDE209 may affect Dio3 expression in placenta cells by interfering with miRNAs and methylation status in the imprinting region, potentially leading to thyroid hormone instability and developmental toxicity. Candidate miRNAs, IG-DMR, and MEG3-DMR in the Dlk1-Dio3 locus could serve as informative markers for future large-scale population studies on the impact of in utero exposure to environmental POPs.
Article
Biochemistry & Molecular Biology
Shaoyan Chang, Jie Min, Xiaolin Lu, Qingyu Zhang, Shaofang Shangguan, Ting Zhang, Li Wang
Summary: Proper imprinting of Dlk1-Dio3 is crucial for embryogenesis, and folic acid deficiency can affect its imprinting through epigenetic regulation. Abnormal imprinting status of Dlk1-Dio3 is associated with neural tube defects caused by folate deficiency. Folic acid deficiency leads to changes in miRNA expression, especially upregulation of miR-370, which can contribute to the development of neural tube defects.
JOURNAL OF NUTRITIONAL BIOCHEMISTRY
(2023)
Article
Genetics & Heredity
Liang Zhang, Zhengbin Han, Hongjuan He, Ximeijia Zhang, Mengyan Zhang, Boran Li, Qiong Wu
Summary: Meg8-DMR, the first maternal methylated DMR discovered in the Dlk1-Dio3 domain, plays a role in regulating microRNA expression. Deletion of Meg8-DMR enhances migration and invasion in MLTC-1 cells. However, its biological function in mouse development remains unknown. This study used CRISPR/Cas9 to generate genomic deletions of Meg8-DMR in mice and found that it regulates microRNA expression without affecting embryonic development.
Article
Biochemistry & Molecular Biology
Mengying Yu, Yingxiang Liu, Zhuo Han, Wei Du, Bingxue Chen, Lei Zhang, Hongni Xue, Zihan Zhang, Zekun Guo
Summary: The gene dosage at the imprinted Dlk1-Dio3 locus is critical for cell growth and development. A high gene expression within the Dlk1-Dio3 region, especially the active expression of Gtl2, is a reliable marker for cell pluripotency. The DNA methylation state of the IG-DNA methylated regions (DMR) dominantly contributes to the control of gene expression in the Dlk1-Dio3 locus, but the precise mechanism is still unknown. In this study, the interaction of PGC7 with UHRF1 is found to be involved in maintaining DNA methylation and inducing DNA hypermethylation in the IG-DMR region.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA
(2022)
Article
Oncology
Yanhua Wang, Teng Xie, Huaming Liu, Xiaoping Yu
Summary: In this study, it was found that HLA-F-AS1 was highly expressed and MEG3 was downregulated in GBM. HLA-F-AS1 promoted cell migration and invasion, while reducing cell apoptosis, while MEG3 played opposite roles and attenuated the effects of HLA-F-AS1.
CANCER MANAGEMENT AND RESEARCH
(2021)
Article
Gastroenterology & Hepatology
An-Li Jin, Lin Ding, Wen-Jing Yang, Te Liu, Wei Chen, Tong Li, Chun-Yan Zhang, Bai-Shen Pan, Shuang-Jian Qiu, Jian Zhou, Jia Fan, Wei Guo, Xin-Rong Yang, Bei-Li Wang
Summary: Exosomes derived from cancer-associated fibroblasts (CAFs-exo) can promote hepatocellular carcinoma (HCC) progression by delivering specific miRNAs and inhibiting HHIP expression. HHIP is a potential prognostic biomarker in HCC.
BMC GASTROENTEROLOGY
(2022)
Article
Genetics & Heredity
Jing Zhang, Huiling Li, Jianyi Dong, Nan Zhang, Yang Liu, Xiaoqin Luo, Jun Chen, Jingyu Wang, Aiguo Wang
Summary: Gender disparity in hepatocellular carcinoma is significant, with males being more susceptible to develop HCC. Common miRNA expression profile changes were identified between genders, and key components contributing to HCC in both sexes were filtered out through integrating transcriptomic data.
FRONTIERS IN GENETICS
(2021)
Review
Pharmacology & Pharmacy
Yi Zhang, Yingchi Wang, Yutong Jiang, Huahui Bai, Yu Wen
Summary: This study provides a comprehensive summary of the role and specific mechanisms of LncRNA MEG3 in gastric cancer, revealing that MEG3 can inhibit the proliferation and migration of gastric cancer cells and is involved in various molecular mechanisms that suppress gastric cancer development. Low expression of MEG3 is associated with poor prognosis in gastric cancer patients, while transfection of MEG3 can improve the overall survival time of normal cells.
CURRENT PHARMACEUTICAL DESIGN
(2023)
Article
Physics, Multidisciplinary
Guido Gigante, Alessandro Giuliani
Summary: In this study, a statistical-mechanics approach was used to analyze the temporal fluctuations of all-cause mortality in different regions of Italy, with a focus on the correlation structure of this index. By reconstructing the correlation network among the regions, it was possible to monitor emerging systemic threats and their impact on health.
Article
Biochemistry & Molecular Biology
Jekaterina Erenpreisa, Alessandro Giuliani, Kenichi Yoshikawa, Martin Falk, Georg Hildenbrand, Kristine Salmina, Talivaldis Freivalds, Ninel Vainshelbaum, Jonas Weidner, Aaron Sievers, Gotz Pilarczyk, Michael Hausmann
Summary: Complex functioning of the genome in the cell nucleus is controlled at different levels, including the DNA base sequence, epigenetic pathways, and genome architecture. This article reviews recent research on integrating these levels of genome expression regulation and discusses the conclusions from an international symposium held in Riga, Latvia, which addressed novel aspects of the topic.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Fabiola Marino, Nadia Salerno, Mariangela Scalise, Luca Salerno, Annalaura Torella, Claudia Molinaro, Antonio Chiefalo, Andrea Filardo, Chiara Siracusa, Giuseppe Panuccio, Carlo Ferravante, Giorgio Giurato, Francesca Rizzo, Michele Torella, Maria Donniacuo, Antonella De Angelis, Giuseppe Viglietto, Konrad Urbanek, Alessandro Weisz, Daniele Torella, Eleonora Cianflone
Summary: Diabetic cardiomyopathy (DCM) is a major cause of cardiovascular complications in diabetes mellitus (DM). Two different types of diabetes, type 1 and type 2, exhibit different effects on cardiac structure, function and gene expression. Animal models induced by different glucose regulators have been used to compare and study these effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, Agnese Novelli, Serena Spartano, Maria Vittoria Faggiano, Teresa Giovanniello, Antonio Angeloni, Giovanni Vento, Roberta Santoloci, Francesca Gigli, Adele D'Amico, Simonetta Costa, Alessia Porzi, Mara Panella, Chiara Ticci, Marta Daniotti, Michele Sacchini, Ilaria Boschi, Enrico Bertini, Antonio Lanzone, Giancarlo Lamarca, Maurizio Genuardi, Marika Pane, Maria Alice Donati, Eugenio Mercuri, Francesco Danilo Tiziano
Summary: This study reports the results of the first Italian SMA-NBS project and proposes updates to the current molecular diagnostic scenario. The incidence of SMA among newborns was found to be 1:6059, with 40% of patients showing signs suggestive of SMA at birth. The study also discusses some unusual cases.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Health Care Sciences & Services
Rina Di Bonaventura, Liverana Lauretti, Maurizio Martini, Tonia Cenci, Giuliano Di Monaco, Davide Palombi, Giovanni Maria Ceccarelli, Silvia Chiesa, Marco Gessi, Alessia Granitto, Alessio Albanese, Luigi Maria Larocca, Quintino Giorgio D'Alessandris, Roberto Pallini, Alessandro Olivi
Summary: Grade 3 meningiomas are rare malignant tumors with poor understanding of their molecular bases of anaplasia and progression. In this study, we examined clinical data and pathologic samples of grade 3 anaplastic meningiomas to investigate the molecular profile evolution in progressive cases. We identified two subgroups of patients based on molecular changes before and after progression, and found that Sox2 increase was associated with shortened survival compared to EGFRvIII gain. Our findings provide potential targets for personalized treatments in meningioma progression.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Multidisciplinary Sciences
Pietro Hiram Guzzi, Luisa di Paola, Barbara Puccio, Ugo Lomoio, Alessandro Giuliani, Pierangelo Veltri
Summary: The structure of proteins determines their function, and mutations can lead to structural changes and functional modifications. In this study, we investigate the relationship between sequence mutations and structure variations of the SARS-CoV-2 Spike protein to understand the structural consequences of mutated amino acid residues in different strains of the virus. We propose the use of protein contact network (PCN) formalism to compare sequence and structure, and we found that the Omicron variant has a unique mutational pattern resulting in distinct structural implications compared to other strains.
SCIENTIFIC REPORTS
(2023)
Review
Neurosciences
Alessandro Rapisarda, Marco Battistelli, Alessandro Izzo, Manuela D'Ercole, Quintino Giorgio D'Alessandris, Filippo Maria Polli, Samuele Santi, Renata Martinelli, Nicola Montano
Summary: Medical treatment may not be feasible for trigeminal neuralgia due to lack of response or adverse effects. Open surgery or percutaneous procedures are recommended instead. A systematic review of surgical procedures for trigeminal neuralgia showed heterogenous results and a lack of high-quality studies. Microvascular decompression appeared to be the most effective procedure, but had a high rate of complications. Well-designed comparative studies and validated scales are needed to provide more homogeneous data for analysis.
Article
Medicine, General & Internal
Quintino Giorgio D'Alessandris, Grazia Menna, Vito Stifano, Giuseppe Maria Della Pepa, Benedetta Burattini, Michele Di Domenico, Alessandro Izzo, Manuela D'Ercole, Liverana Lauretti, Nicola Montano, Alessandro Olivi
Summary: Preservation of facial nerve function is crucial in neurosurgery for cerebellopontine angle tumors in elderly patients. Corticobulbar facial motor evoked potentials are valuable for assessing facial motor pathways and improving safety. This study aimed to evaluate the significance of intraoperative FMEPs in patients aged 65 and older.
Article
Mathematical & Computational Biology
Olga Sirbu, Mohamed Helmy, Alessandro Giuliani, Kumar Selvarajoo
Summary: Cancer is considered a genetic disease, and recent studies have shown that every human gene may be associated with cancer. The distinction between oncogenes that drive cancer and those that are associated but do not play a role is important. Through analysis of single-cell and bulk datasets of cancer transcriptomes and proteomes, it was found that oncogenes have higher connectivity in protein-protein interaction networks compared to random genes. Additionally, at the single-cell level, there is variant behavior in a subset of oncogenes for each cancer type. Further study using protein causality and higher-resolution single-cell analysis is needed to understand the role of oncogenes.
NPJ SYSTEMS BIOLOGY AND APPLICATIONS
(2023)
Editorial Material
Biochemistry & Molecular Biology
Kumar Selvarajoo, Alessandro Giuliani
Review
Medicine, General & Internal
Luca Di Gianfrancesco, Alessandro Crestani, Antonio Amodeo, Paolo Corsi, Davide De Marchi, Eugenio Miglioranza, Giuliana Lista, Francesca Simonetti, Gian Maria Busetto, Martina Maggi, Francesco Pierconti, Maurizio Martini, Isabella Monia Montagner, Debora Tormen, Antonio Scapinello, Filippo Marino, Angelo Porreca
Summary: Bladder cancer is a common cancer that requires early detection and management. Researchers are exploring the use of biomarkers, such as PD-L1, to detect and monitor bladder cancer.
Article
Health Care Sciences & Services
Manuela D'Ercole, Quintino Giorgio D'Alessandris, Michele Di Domenico, Benedetta Burattini, Grazia Menna, Alessandro Izzo, Filippo Maria Polli, Giuseppe Maria Della Pepa, Alessandro Olivi, Nicola Montano
Summary: The role of IONM in IDEM tumor surgery is still debated. This study suggests that SEP monitoring is effective in preserving the patient's neurological status, while MEP monitoring is not mandatory in such surgeries.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Mariausilia Franchina, Cristina Pizzimenti, Vincenzo Fiorentino, Maurizio Martini, Giuseppina Rosaria Rita Ricciardi, Nicola Silvestris, Antonio Ieni, Giovanni Tuccari
Summary: HER2-low and ultra-low breast cancer are new subcategories of HER2 BC, and the review outlines the criteria for distinguishing them. Clinical trials have shown the benefits of HER2-directed antibody-drug conjugates (ADCs) in treating these tumors, including trastuzumab-deruxtecan, which has been approved as the first targeted therapy for HER2-low BC. Ongoing trials, such as the DESTINY-Breast06 trial, are evaluating ADCs for HER2-ultra low BC. New guidelines are hoped to improve our understanding of tumor biology and provide new therapeutic options.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Quintino Giorgio D'Alessandris, Marco Battistelli, Giovanni Pennisi, Martina Offi, Maurizio Martini, Tonia Cenci, Maria Laura Falchetti, Liverana Lauretti, Alessandro Olivi, Roberto Pallini, Nicola Montano
Summary: Glioblastoma (GBM) is a highly heterogeneous malignant brain tumor with a median overall survival of 14 to 18 months. The reactivation of telomerase, a hallmark of malignant glioma, has led to the exploration of telomerase inhibition as a potential therapeutic strategy. Although successful in vitro and in vivo studies have been conducted, the clinical applications of telomerase inhibition in GBM are currently limited. This systematic review aims to provide an up-to-date report on the studies investigating telomerase inhibition, in order to promote future translational and clinical research in this area.
EXPERT REVIEWS IN MOLECULAR MEDICINE
(2023)
