Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations
CONCLUSION: In this study, two novel variations in the NAGLU gene were identified. The results of this study positively contribute to the mutation diversity of the NAGLU gene. To identify new disease biomarkers and therapeutic targets, precision medicine must precisely characterize and account for genetic variations. New harmful gene variants are valuable for updating gene databases concerning Sanfilippo disease variations and NGS gene panels. This may also improve genetic counselling for rapid risk examinations and disease surveillance.PMID:38492611 | DOI:10.1016/j.gene.2024.148354 (Source: Gene)
Source: Gene - March 16, 2024 Category: Genetics & Stem Cells Authors: Mahzad Nasir Shalal Majid Aminzadeh Alihossein Saberi Reza Azizi Malmiri Reza Aminzadeh Pegah Ghandil Source Type: research
Exosomal IGFBP2 derived from highly metastatic promotes hepatocellular carcinoma metastasis by inducing epithelial mesenchymal transition
We examined IGFBP2 special expression in the plasma exosomes of both liver cancer patients and healthy volunteers, and its presence was associated with a poor prognosis in liver cancer patients. Furthermore, we observed that exosomes from highly metastatic liver cancer cells (MHCC97H) contained high levels of IGFBP2 and could enhance the metastatic potential of less aggressive liver cancer cells (Hep3B). Additionally, we discovered that IGFBP2 in MHCC97H-derived exosomes activated ERK signaling pathway, which triggered epithelial-mesenchymal transition (EMT) in Hep3B cells. Our study underscores the significance of exosoma...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Yongyuan Zheng Weibing Li Yansong Huang Hongqiu Cheng Source Type: research
Meta-analysis of Circulatory mitomiRs in stress Response: Unveiling the significance of miR-34a and miR-146a
CONCLUSION: This meta-analysis emphasises the importance of mitomiRs, especially miR-34a, as potential biomarkers in the intricate interplay between stress, mitochondrial function, and disease. The study opens new avenues for exploring miRNAs' diagnostic and therapeutic applications in stress-related diseases, highlighting their pivotal role at the crossroads of molecular biology, psychology, and medicine.PMID:38490506 | DOI:10.1016/j.gene.2024.148370 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Arpan Chattopadhyay Harshita Tak Jivanage Anirudh B Hemanth Naick Source Type: research
A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant
Gene. 2024 Mar 13:148379. doi: 10.1016/j.gene.2024.148379. Online ahead of print.NO ABSTRACTPMID:38490507 | DOI:10.1016/j.gene.2024.148379 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Dandan Xiang Kangkang Xu Mei Chen Zhongman Zhang Ningning Sun Yuying Qi Jie Lu Chunli Wang Shiwei Yang Source Type: research
SARS-CoV-2 and UPS with potentials for therapeutic interventions
Gene. 2024 Mar 14;912:148377. doi: 10.1016/j.gene.2024.148377. Online ahead of print.ABSTRACTThe Ubiquitin proteasome system (UPS), an essential eukaryotic/host/cellular post-translational modification (PTM), plays a critical role in the regulation of diverse cellular functions including regulation of protein stability, immune signaling, antiviral activity, as well as virus replication. Although UPS regulation of viral proteins may be utilized by the host as a defense mechanism to invade viruses, viruses may have adapted to take advantage of the host UPS. This system can be manipulated by viruses such as the Severe Acute R...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Jannatul Ferdoush Rizwaan Abdul Kadir Selin Simay Kaplanoglu Morgan Osborn Source Type: research
Targeting CAMK2N1/CAMK2 inhibits invasion, migration and angiogenesis of non-small cell lung cancer by promoting autophagy and apoptosis via AKT/mTOR signaling pathway
In conclusion, this study demonstrated the cancer suppressive function of CAMK2N1 in NSCLC and showed that CAMK2N1/CAMK2 exerted anti-cancer effects by inhibiting the AKT/mTOR signaling pathway to promote autophagy.PMID:38490509 | DOI:10.1016/j.gene.2024.148375 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Qiang Wang Chao Zhang Hai Jiang Weiyang He Source Type: research
Impact of BK Polyomavirus NCCR variations in post kidney transplant outcomes
The objective of this review study was to examine the disease-causing and clinical consequences of variations in the NCCR in BKPyV-infected KTRs such as virus-associated nephropathy (BKPyVAN).PMID:38490510 | DOI:10.1016/j.gene.2024.148376 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Ilnaz Sahragard Ramin Yaghobi Ali Mohammadi Afsoon Afshari Maryam Pakfetrat Mohammad Hossein Karimi Mahmoud Reza Pourkarim Source Type: research
Identification of suitable reference genes for RT-qPCR studies in human parathyroid tissue glandular cells
This study aims to determine and compare the most stable to least stable genes for parathyroid tissue cells. 43 human parathyroid tissue obtained from primary and secondary hyperparathyroidism patients and glandular cells isolated enzymatically by removal of extracellular matrix components. After extraction of the total RNA, cDNA synthesis was performed, then qRT-PCR evaluated 14 candidate reference genes. Stability was determined by RefFinder software (Delta ct, BestKeeper, Genorm, and NormFinder algorithms), and the outcome was evaluated for five groups. Even if assessed with different groups, the most stable genes were ...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Beyza Goncu Source Type: research
Revisiting the role and mechanism of ELF3 in circadian clock modulation
Gene. 2024 Mar 13:148378. doi: 10.1016/j.gene.2024.148378. Online ahead of print.ABSTRACTThe gene encoding EARLY FLOWERING3 (ELF3) is necessary for photoperiodic flowering and the normal regulation of circadian rhythms. It provides important information at the cellular level to uncover the biological mechanisms that improve plant growth and development. ELF3 interactions with transcription factors such as BROTHER OF LUX ARRHYTHMO (BOA), LIGHT-REGULATED WD1 (LWD1), PHYTOCHROME-INTERACTING FACTOR 4 (PIF4), PHYTOCHROME-INTERACTING FACTOR 7 (PIF7), and LUX ARRHYTHMO (LUX) suggest a role in evening complex (EC) independent path...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Xingzhun Zhu Hongtao Wang Source Type: research
Polymorphism in the leucine-rich repeats of TLR7 in different breeds of chicken and in silico analysis of its effect on TLR7 structure and function
This study first aimed to compare the single nucleotide polymorphisms (SNPs) associated with the ligand binding site of TLR7 in three indigenous chicken breeds namely Aseel, Kadaknath, Nicobari along with an exotic breed White Leghorn. Four synonymous SNPs (P123P, I171I, N339N and L421L) and four non-synonymous SNPs (I121V, S135T, F356S and S447G) were identified among various breeds. We employed in silico tools to screen the pathogenic nsSNPs and one nsSNP was identified as having potential impact on chTLR7 protein. Moreover, sequence and structure-based methods were used to determine the effect of nsSNPs on protein stabi...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Abinaya Kaliappan Saravanan Ramakrishnan Prasad Thomas Surya Kant Verma Khushboo Panwar Mithilesh Singh Sohini Dey Madhan Mohan Chellappa Source Type: research
Exosomal IGFBP2 derived from highly metastatic promotes hepatocellular carcinoma metastasis by inducing epithelial mesenchymal transition
We examined IGFBP2 special expression in the plasma exosomes of both liver cancer patients and healthy volunteers, and its presence was associated with a poor prognosis in liver cancer patients. Furthermore, we observed that exosomes from highly metastatic liver cancer cells (MHCC97H) contained high levels of IGFBP2 and could enhance the metastatic potential of less aggressive liver cancer cells (Hep3B). Additionally, we discovered that IGFBP2 in MHCC97H-derived exosomes activated ERK signaling pathway, which triggered epithelial-mesenchymal transition (EMT) in Hep3B cells. Our study underscores the significance of exosoma...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Yongyuan Zheng Weibing Li Yansong Huang Hongqiu Cheng Source Type: research
Meta-analysis of Circulatory mitomiRs in stress Response: Unveiling the significance of miR-34a and miR-146a
CONCLUSION: This meta-analysis emphasises the importance of mitomiRs, especially miR-34a, as potential biomarkers in the intricate interplay between stress, mitochondrial function, and disease. The study opens new avenues for exploring miRNAs' diagnostic and therapeutic applications in stress-related diseases, highlighting their pivotal role at the crossroads of molecular biology, psychology, and medicine.PMID:38490506 | DOI:10.1016/j.gene.2024.148370 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Arpan Chattopadhyay Harshita Tak Jivanage Anirudh B Hemanth Naick Source Type: research
A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant
Gene. 2024 Mar 13:148379. doi: 10.1016/j.gene.2024.148379. Online ahead of print.NO ABSTRACTPMID:38490507 | DOI:10.1016/j.gene.2024.148379 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Dandan Xiang Kangkang Xu Mei Chen Zhongman Zhang Ningning Sun Yuying Qi Jie Lu Chunli Wang Shiwei Yang Source Type: research
SARS-CoV-2 and UPS with potentials for therapeutic interventions
Gene. 2024 Mar 13:148377. doi: 10.1016/j.gene.2024.148377. Online ahead of print.ABSTRACTThe Ubiquitin proteasome system (UPS), an essential eukaryotic/host/cellular post-translational modification (PTM), plays a critical role in the regulation of diverse cellular functions including regulation of protein stability, immune signaling, antiviral activity, as well as virus replication. Although UPS regulation of viral proteins may be utilized by the host as a defense mechanism to invade viruses, viruses may have adapted to take advantage of the host UPS. This system can be manipulated by viruses such as the Severe Acute Respi...
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Jannatul Ferdoush Rizwaan Abdul Kadir Selin Simay Kaplanoglu Morgan Osborn Source Type: research
Targeting CAMK2N1/CAMK2 inhibits invasion, migration and angiogenesis of non-small cell lung cancer by promoting autophagy and apoptosis via AKT/mTOR signaling pathway
In conclusion, this study demonstrated the cancer suppressive function of CAMK2N1 in NSCLC and showed that CAMK2N1/CAMK2 exerted anti-cancer effects by inhibiting the AKT/mTOR signaling pathway to promote autophagy.PMID:38490509 | DOI:10.1016/j.gene.2024.148375 (Source: Gene)
Source: Gene - March 15, 2024 Category: Genetics & Stem Cells Authors: Qiang Wang Chao Zhang Hai Jiang Weiyang He Source Type: research
