Article
Oncology
Laurynas Vilys, Inga Peciuliene, Egle Jakubauskiene, Ruta Zinkeviciute, Yuichi Makino, Arvydas Kanopka
Summary: The splicing machinery is crucial for cellular adaptability and hypoxia can alter RNA splicing, leading to the formation of different Fas mRNA isoforms.
EXPERIMENTAL CELL RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Zhenye Li, Yiyuan Chen, Xiaohui Yao, Qian Liu, Haibo Zhu, Yazhuo Zhang, Jie Feng, Hua Gao
Summary: This study identified the profiling of the integrated stress response in somatotroph adenomas, highlighting the importance of EIF2 beta and its correlation with other factors. The level of EIF2 beta expression was associated with the invasiveness and immune-cell infiltration in somatotroph adenomas.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Zakaria Louadi, Kevin Yuan, Alexander Gress, Olga Tsoy, Olga Kalinina, Jan Baumbach, Tim Kacprowski, Markus List
Summary: Alternative splicing plays a crucial role in regulating the functional diversity of the proteome, but its isoform-specific effects on protein-protein interactions are often overlooked. By integrating various interaction information, researchers have developed a user-friendly database called DIGGER to study mechanistic consequences of alternative splicing, providing a valuable resource for exploring the functional role of individual exons on a network level.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Biology
Azusa Yamato, Hidekazu Nagano, Yue Gao, Tatsuma Matsuda, Naoko Hashimoto, Akitoshi Nakayama, Kazuyuki Yamagata, Masataka Yokoyama, Yingbo Gong, Xiaoyan Shi, Siti Nurul Zhahara, Takashi Kono, Yuki Taki, Naoto Furuki, Motoi Nishimura, Kentaro Horiguchi, Yasuo Iwadate, Masaki Fukuyo, Bahityar Rahmutulla, Atsushi Kaneda, Yoshinori Hasegawa, Yusuke Kawashima, Osamu Ohara, Tetsuo Ishikawa, Eiryo Kawakami, Yasuhiro Nakamura, Naoko Inoshita, Shozo Yamada, Noriaki Fukuhara, Hiroshi Nishioka, Tomoaki Tanaka
Summary: This study integrates the genetic alterations, protein expressions, and clinical characteristics of growth hormone-producing pituitary adenomas/somatotroph pituitary neuroendocrine tumors to identify molecules associated with acromegaly characteristics. The results reveal a biological connection between GNAS mutations and the clinical and biochemical characteristics of acromegaly, providing potential targets for medical treatment efficacy.
COMMUNICATIONS BIOLOGY
(2022)
Article
Endocrinology & Metabolism
Mengqi Chang, Zihao Wang, Jun Gao, Chengxian Yang, Ming Feng, Yamei Niu, Wei-Min Tong, Xinjie Bao, Renzhi Wang
Summary: This study demonstrates that m(6)A methyltransferase METTL3 promotes tumor growth and hormone secretion by increasing the expression of GNAS and GADD45 gamma in a m(6)A-dependent manner. Hence, METTL3 and the methylated RNAs may serve as suitable targets for clinical treatment of GH-PAs.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Plant Sciences
Ewa Sybilska, Agata Daszkowska-Golec
Summary: Seed germination is a vital process in a plant's life that is regulated by various mechanisms and external factors. Alternative splicing (AS) plays a significant role in abscisic acid (ABA) signaling and gene expression control. This review discusses the current understanding of AS regulators and ABA-related changes in AS during seed germination, as well as the impact of these changes on protein functionality. The advances in sequencing technology provide better tools for studying the role of AS in gene regulation.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Jamal Elhasnaoui, Giulio Ferrero, Valentina Miano, Lorenzo Franchitti, Isabella Tarulli, Lucia Coscujuela Tarrero, Santina Cutrupi, Michele De Bortoli
Summary: This study found that ESRP1 is overexpressed in breast cancer patients, particularly in luminal BCs, and is correlated with estrogen receptor alpha levels. Analysis of genome-binding profiles revealed that ER alpha regulates the expression of ESRP1 and ESRP2 genes. Knocking down ESRP1/2 led to dysregulation of 754 genes, including alterations in alternative splicing events involved in cell signaling, metabolism, cell growth, and EMT. Functional network analysis identified RAC1 as the hub node affected by ESRP1/2 silencing in ER alpha+ BCs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Sandhya Malla, Devi Prasad Bhattarai, Paula Groza, Dario Melguizo-Sanchis, Ionut Atanasoai, Carlos Martinez-Gamero, Angel-Carlos Roman, Dandan Zhu, Dung-Fang Lee, Claudia Kutter, Francesca Aguilo
Summary: This study reveals the role of ZFP207 in mouse embryonic stem cells through multiple functional analyses. Unlike human ESCs, mouse ZFP207 mainly exerts its effects by controlling AS networks and acting as RNA-binding proteins (RBPs) to maintain ESC identity and regulate neural fate commitment.
Article
Medicine, Research & Experimental
Yiyuan Chen, Zhenye Li, Qiuyue Fang, Hongyun Wang, Chuzhong Li, Hua Gao, Yazhuo Zhang
Summary: The study showed that CDKN2A inhibits bio-activity by modulating CDK4, and high CDKN2A predicts insensitivity to CDK4 inhibitor, Palbociclib, affecting potential therapeutic outcomes in somatotroph adenoma patients.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2021)
Review
Endocrinology & Metabolism
Panyisha Wu, Moya Zhang, Nicholas J. G. Webster
Summary: Alternative RNA splicing is an important biological process that has been linked to various clinical syndromes, but its applicability to common diseases is still uncertain. This review focuses on the changes in alternative RNA splicing in fatty liver disease and the role of splicing regulation in disease progression.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Swaroop Thonda, Ravali L. Vinnakota, Swathi V. Kona, Shasi V. Kalivendi
Summary: Alpha-synuclein plays a precipitating role in Parkinson's disease by forming oligomers and fibrils. The smaller isoform, 112-synuclein, lacks exon-5 and has an enhanced aggregation propensity. This study aimed to identify the elements responsible for exon-5 skipping in the presence of the Parkinsonian agent MPP+. The results revealed that the 5' flanking intronic region of exon-5 contains cis-acting elements for oxidant-induced alternative splicing. RBDP analysis identified four putative RNA binding proteins that may bind to this region and their expression was reduced after MPP+ treatment. Overexpression of RBMX mitigated the generation of 112-synuclein and reduced intracellular alpha-synuclein aggregates. Overall, RBMX was found to play a pivotal role in the pathophysiology of Parkinson's disease.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS
(2022)
Article
Plant Sciences
Shi-Kai Cao, Rui Liu, Aqib Sayyed, Feng Sun, Ruolin Song, Xiaomin Wang, Zhihui Xiu, Xiaojie Li, Bao-Cai Tan
Summary: DEK47 is an essential protein in maize for mitochondrial intron splicing and seed development, with its loss causing developmental arrest in embryos and endosperm. Mutations in DEK47 affect the splicing of nad2 introns, resulting in reduced activity of mitochondrial complex I.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Sadhana R. N. Sudhakar, Shahper N. Khan, Ariel Clark, Thordur Hendrickson-Rebizant, Shrinal Patel, Ted M. Lakowski, James R. Davie
Summary: PRMT1 is a major enzyme involved in the methylation of arginine residues in protein substrates. It plays regulatory roles in various biological processes such as chromatin dynamics, transcription, RNA processing, and signal transduction. This review provides an overview of PRMT1's structure, biochemical features, regulation, and cellular functions. It also discusses the genomic distribution of PRMT1, its association with tRNA genes, and its substrates involved in splicing.
BIOCHEMISTRY AND CELL BIOLOGY
(2023)
Review
Oncology
Mosebo Armstrong Manabile, Rodney Hull, Richard Khanyile, Thulo Molefi, Botle Precious Damane, Nigel Patrick Mongan, David Owen Bates, Zodwa Dlamini
Summary: Colorectal cancer is a leading cause of cancer-related deaths globally, with increasing incidence in developing countries. Dysregulated alternative splicing processes in colorectal cancer can promote its development and progression by producing proteins that activate cancer-promoting genes or deactivate cancer-inhibiting genes. It is important to identify these dysregulated alternative splicing genes in order to develop targeted treatments and diagnostics to stop cancer development and progression.
Article
Biotechnology & Applied Microbiology
Jing Chen, Yuwei Liu, Shang Xia, Xujun Ye, Ling Chen
Summary: The study reveals the role of ANXA2 in inflammatory response in HK2 cells and demonstrates the regulation of transcription and alternative splicing of inflammation-related genes by ANXA2. These findings contribute to a better understanding of the mechanisms underlying the progression of chronic kidney disease.
Article
Endocrinology & Metabolism
Jakob Dal, Christian Rosendal, Jesper Karmisholt, Ulla Feldt-Rasmussen, Marianne S. Andersen, Marianne Klose, Claus Feltoft, Ansgar Heck, Eigil H. Nielsen, Jens O. L. Jorgensen
Summary: Objective: The study aimed to explore the sex differences in growth hormone (GH) and insulin-like growth factor 1 (IGF-I) patterns, clinical features, and disease control in patients with controlled acromegaly. The results showed that postmenopausal females with controlled acromegaly exhibited higher GH levels than males despite comparable IGF-I levels, which also translated into impaired metabolic health and well-being.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Environmental Sciences
Aina Jansen, Jan O. Aaseth, Jan L. Lyche, Jens P. Berg, Mette H. B. Muller, Stian Lydersen, Per G. Farup
Summary: Bariatric surgery leads to the release of persistent organic pollutants (POPs), which may cause endocrine disruption. This study aimed to explore the associations between POPs and adiponectin, leptin, and ghrelin in subjects undergoing bariatric surgery. The results showed significant increases in adiponectin and all POPs levels after surgery, as well as a decrease in leptin. The main finding was the highly significant associations between adiponectin and all POPs.
Article
Endocrinology & Metabolism
Karolina Lundstam, Mikkel Pretorius, Jens Bollerslev, Kristin Godang, Morten W. Fagerland, Charlotte Mollerup, Stine L. Fougner, Ylva Pernow, Turid Aas, Ola Hessman, Thord Rosen, Jorgen Nordenstrom, Svante Jansson, Mikael Hellstrom, Ansgar Heck
Summary: Mild or asymptomatic disease is the most common presentation of primary hyperparathyroidism (PHPT), but it can still lead to decreased bone mineral density (BMD) and an increased risk of fractures. The need for parathyroidectomy (PTX) in mild PHPT has been debated, and long-term randomized studies comparing PTX with observation without intervention (OBS) are needed. This study from the Scandinavian Investigation of Primary Hyperparathyroidism (SIPH) compared PTX to OBS and showed that PTX had a significant treatment effect on BMD compared with OBS, but did not reduce fracture risk. Observation may be a safe option for many patients with mild PHPT regarding bone health in a 10-year perspective.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Clinical Neurology
A. Sperre, I. Karsrud, A. H. S. Rodum, A. Lashkarivand, L. M. Valnes, G. Ringstad, P. K. Eide
Summary: This study found that intrathecal gadobutrol in doses up to 0.50 is safe, based on observations of 196 patients who received intrathecal contrast-enhanced imaging of the cerebrospinal fluid.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Article
Endocrinology & Metabolism
Camilla M. Falch, Mai Christiansen Arlien-Soborg, Jakob Dal, Arvind Y. M. Sundaram, Annika E. Michelsen, Thor Ueland, Linn Guro Olsen, Ansgar Heck, Jens Bollerslev, Jens Otto L. Jorgensen, Nicoleta C. Olarescu
Summary: This study analyzed the gene expression landscape in subcutaneous adipose tissue (SAT) of patients with active acromegaly and found differential expression in pathways related to inflammation, cell adhesion and extracellular matrix, GH and insulin signaling, and fatty acid oxidation. After disease control, serum levels of HTRA1, METRNL, S100A8/A9, and PDGFD significantly increased, and visceral adipose tissue (VAT) correlated with HTRA1 and S100A8/A9.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Pia Burman, Olivera Casar-Borota, Luis Gustavo Perez-Rivas, Olaf M. Dekkers
Summary: Aggressive pituitary tumors (APTs) and pituitary carcinomas (PCs) are heterogeneous in terms of clinical presentation and response to therapy. Mutation detection of TP53 and ATRX can help identify aggressive forms early. Treatment involves surgery, radiotherapy, and drugs, with temozolomide being the recommended first-line chemotherapy. Checkpoint inhibitors have shown promise as second-line therapy for PCs. Management should be discussed in expert teams considering clinical findings and patient's condition.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Nivedita Agarwal, Laura D. Lewis, Lydiane Hirschler, Leonardo Rivera Rivera, Shinji Naganawa, Swati Rane Levendovszky, Geir Ringstad, Marijan Klarica, Joanna Wardlaw, Costantino Iadecola, Cheryl Hawkes, Roxana Octavia Carare, Jack Wells, Erik N. T. P. Bakker, Vartan Kurtcuoglu, Lynne Bilston, Maiken Nedergaard, Yuki Mori, Marcus Stoodley, Noam Alperin, Mony de Leon, Matthias J. P. van Osch
Summary: Neurofluids refer to all fluids in the brain and spine, including blood, cerebrospinal fluid, and interstitial fluid. Neuroscientists have identified various fluid environments that interact harmoniously to support optimal brain function. Animal studies have been crucial in understanding the dynamics of neurofluids, while human studies are limited due to the lack of noninvasive imaging techniques. The future development of noninvasive MRI techniques holds promise in imaging neurofluid dynamics and identifying pathological processes.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Endocrinology & Metabolism
Anders Jensen Kolnes, Kristin Astrid Berland oystese, Evelina Sjoestedt, Nicoleta Cristina Olarescu, Ansgar Heck, Jens Pahnke, Daniel Dahlberg, Jon Berg-Johnsen, Geir Ringstad, Olivera Casar-Borota, Jens Bollerslev, Anders Palmstrom Jorgensen
Summary: This study found that transforming growth factor-beta receptor 3-like (TGFBR3L) is selectively expressed in gonadotroph cells and is associated with LH beta expression and plasma gonadotropin concentrations in patients with non-functioning pituitary neuroendocrine tumors (NF-PitNETs).
Article
Multidisciplinary Sciences
Per Kristian Eide, Aslan Lashkarivand, Are Pripp, Lars Magnus Valnes, Markus Herberg Hovd, Geir Ringstad, Kaj Blennow, Henrik Zetterberg
Summary: In this study, associations between plasma neurodegeneration biomarker concentrations and measures of glymphatic and meningeal lymphatic functions were examined in individuals with neurological disorders. The results suggest that plasma concentrations of neurodegeneration biomarkers are associated with CSF clearance functions.
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
Radek Fric, Geir Ringstad, Per Kristian Eide
Summary: In patients with Chiari malformation type 1 (CMI) and low intracranial compliance (ICC), a preoperative assessment of ICC is performed and patients with low ICC are treated with ventriculoperitoneal shunt (VPS) before foramen magnum decompression (FMD). This study assesses the outcome of patients with low ICC compared to those with high ICC treated with FMD alone.
WORLD NEUROSURGERY
(2023)
Article
Biology
Erik Melin, Geir Ringstad, Lars Magnus Valnes, Per Kristian Eide
Summary: Human MRI data suggests that the parasagittal dura volume may not have a major role in cerebrospinal fluid clearance, but instead functions as a neuro-immune interface. The volume of the parasagittal dura is not influenced by any single variable, but the levels of tracer in the dura are strongly correlated with the levels in the cerebrospinal fluid (CSF) and brain. Furthermore, the peak levels of tracer in the dura occur much later than in the blood, indicating that it is not a major route for CSF clearance.
COMMUNICATIONS BIOLOGY
(2023)
Article
Endocrinology & Metabolism
Ansgar Heck, Kristin Godang, Tove Lekva, Kjersti Norman Markussen, Sara De Vincentis, Thor Ueland, Jens Bollerslev
Summary: This study investigated the relationship between growth hormone and bone density, and found that although growth hormone has positive effects on bone growth, it paradoxically increases the risk of vertebral fractures. There are differences in the long-term effects of sex and gonadal status on bone density and structure, with eugonadal and male patients showing more significant increases in bone density.
Article
Medicine, Research & Experimental
Erik Melin, Are Hugo Pripp, Per Kristian Eide, Geir Ringstad
Summary: This study showed that a CSF tracer substance administered to the lumbar thecal sac can access the parenchyma of the upper cervical spinal cord and brain stem. Clearance from the CSF was delayed in patients with iNPH compared with younger reference patients, suggesting that clearance assessment may be used to tailor intrathecal treatment regimes.
Article
Endocrinology & Metabolism
Camilla M. Falch, Nicoleta C. Olarescu, Jens Bollerslev, Olaf M. Dekkers, Ansgar Heck
Summary: In this study, it was found that the overall mortality in acromegaly did not increase compared to the general population. Although the risk of cancer was slightly increased, it was not statistically significant.