Host 3' flap endonuclease Mus81 plays a critical role in trimming the terminal redundancy of hepatitis B virus relaxed circular DNA during covalently closed circular DNA formation. by Hu Zhang, Quanxin Long, Yuanjie Liu, Alexander L Marchetti, Cheng-Der Liu, Ning Sun, Haitao Guo

“…To address these questions, a mutant HBV cell line HepDES-C1822G was established with a C1822G mutation in the pgRNA coding sequence, altering the sequence of 3' TR of (-) strand DNA while the 5' TR remained wild type (wt). …”
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Revealing Genomic Profile That Underlies Tropism of Myeloma Cells Using Whole Exome Sequencing by Youngil Koh, Daeyoon Kim, Woo-June Jung, Kwang-Sung Ahn, Sung-Soo Yoon

“…For single nucleotide variants (SNV) calling, we used Varscan2. Annotation of mutation was performed using ANNOVAR. Results. When calling of somatic mutations was performed, 68 genes were nonsynonymously mutated only in SNU_MM1393_SC, while 136 genes were nonsynonymously mutated only in SNU_MM1393_BM. …”
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Definition of a Novel Cuproptosis-Relevant lncRNA Signature for Uncovering Distinct Survival, Genomic Alterations, and Treatment Implications in Lung Adenocarcinoma by Zhuning Wang, Junqiao Yao, Tengyu Dong, Xing Niu

“…We collected transcriptome expression profiling, clinical information, somatic mutation, and copy number variations from TCGA-LUAD cohort retrospectively. …”
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The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature by Maxim Barnett, Farhan Ahmed, Radu Mihai, Asha Rattan, Malik Asif Humayun

“…Hyperparathyroidism-jaw tumour syndrome is one such autosomal dominant familial disorder, characterised by a mutation in the cell division cycle 73 (CDC73; also known as HRPT-2) tumour suppressor gene. …”
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In-silico screening and analysis of missense SNPs in human CYP3A4/5 affecting drug-enzyme interactions of FDA-approved COVID-19 antiviral drugs by Amro A. Abdelazim, Mohamad Maged, Ahmed I. Abdelmaksoud, Sameh E. Hassanein

“…An ensemble of bioinformatics tools, [SIFT, PolyPhen-2, cadd, revel, metaLr, mutation assessor, Panther, SNP&GO, PhD-SNP, SNAP, Meta-SNP, FATHMM, I-Mutant, MuPro, INPS, CONSURF, GPS 5.0, MusiteDeep and NetPhos], identified a total of 94 variants (47 SNPs in CYP3A4, 47 SNPs in CYP3A5) to potentially impact the structural integrity as well as the activity of the CYP3A4/5 enzymes. …”
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Optimizing Rural MG’s Performance: A Scenario-Based Approach Using an Improved Multi-Objective Crow Search Algorithm Considering Uncertainty by Mohammad Hossein Taabodi, Taher Niknam, Seyed Mohammad Sharifhosseini, Habib Asadi Aghajari, Seyyed Mohammad Bornapour, Ehsan Sheybani, Giti Javidi

“…IMOCSA enhances the standard Crow Search Algorithm through three key improvements: an adaptive chaotic awareness probability to better balance exploration and exploitation, a mutation mechanism applied to the solution repository to prevent premature convergence, and a K-means clustering method to control repository size and increase algorithmic efficiency. …”
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Redefining bladder cancer treatment: innovations in overcoming drug resistance and immune evasion by Peng Huang, Jie Wang, Zongze Yu, Jiaan Lu, Zhou Sun, Zhigui Chen

“…Review discusses the molecular mechanisms developed during the process of bladder cancer progression: genetic and epigenetic alterations, dynamics of the tumor microenvironment (TME), and dysregulation and abnormal activation of various signaling pathways—all contributing to therapeutic resistance. It is genetic mutation, especially in both low- and high-grade tumors, that, alongside epigenetic modifications, plays a considerable role in tumor aggressiveness and drug resistance. …”
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Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I by Fatemeh Abolhasani, Hossein Abdali, Mohammad Kazemi, Bijan Movahedian Attar, Fatemeh Derakhshandeh, Majid Hosseinzadeh

“…Background: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is a connective tissue disorder that arises from mutations in multiple genes, each with distinct hereditary patterns. …”
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Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism by Somayyeh Hashemian, Reza Jafarzadeh Esfehani, Siroos Karimdadi, Rahim Vakili, Daniel Zamanfar, Amirhossein Sahebkar

“…The participants were evaluated for ABCC8, KCNJ11, or HNF4α gene mutations by polymerase chain reaction (PCR) sequencing. …”
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Impact of Interleukin-10 Promoter Region Polymorphisms on Recurrent Miscarriage: A Case–Control Approach by Neha Sudhir, Mandeep Kaur, Sukhjashanpreet Singh, Archana Beri, Tajinder Kaur, Anupam Kaur

“…Genotype analysis of IL-10 polymorphisms rs1800872 and rs1800896 was performed using the polymerase chain reaction (PCR) restriction fragment length polymorphism and amplification mutation refractory system PCR, respectively. Statistical Analysis Used: Student's t-test was used to compare the demographic features and reproductive history amongst both groups. …”
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An UPLC-MS/MS Method for Determination of Osimertinib in Rat Plasma: Application to Investigating the Effect of Ginsenoside Rg3 on the Pharmacokinetics of Osimertinib by Zhenzhen Ying, Jingyao Wei, Ruijuan Liu, Fang Zhao, Yifang Yu, Xin Tian

“…Osimertinib is a novel oral, potent, and irreversible epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) for treatment of advanced T790M mutation-positive advanced non-small cell lung cancer, which is commonly combined with ginsenoside Rg3 in clinic to enhance the efficacy and minimize adverse reactions. …”
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Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature by Francesca Torresan, Maurizio Iacobone

“…HPT-JT syndrome is caused by germline mutations of the cell division cycle 73 (CDC73) gene that encodes the parafibromin, a 531-amino acid protein with antiproliferative activity. …”
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Enhanced Engraftment of a Very Low-Dose Cord Blood Unit in an Adult Haemopoietic Transplant by Addition of Six Mismatched Viable Cord Units by Stephen J. Proctor, Catherine E. Chapman, Rachel Sharples, Helen L. Lucraft, Jennifer Wilkinson, Jane Conn, Peter G. Middleton

“…Early molecular remission of ALL was demonstrated using a novel PCR for a mitochondrial DNA mutation in the leukaemic clone. The cell dose of the matched cord was well below that recommended to engraft a 70 kg recipient. …”
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Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review by Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao

“…A literature review showed that no homozygous mutations have been reported to date. After 5 years of treatment and follow-up, we found that this genotype requires high levels of potassium and is prone to urinary protein and metabolic syndrome. …”
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Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman by Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Tomasz Tadeusz Godowicz, Francesca Marta Elli, Giovanna Mantovani, Emilio Di Maria

“…The clinical diagnosis of PHP1A was confirmed by molecular analysis, which demonstrated the heterozygous c.568_571del mutation of the GNAS gene. Our report illustrates the natural history of a patient with PHP1A, which went undiagnosed until the age of 64 years, with multi-hormonal resistance and clinical sequelae evolving throughout life, and underlines the importance of diagnosing this rare disease, which has a great impact on patients and their family life.…”
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Food intake regulation during pregnancy and lactation in mice with reduced activity of the melanocortin system by E. N. Makarova, I. V. Romanova, N. M. Bazhan

“…Neuropeptide Y (NPY) and Agouti Related Protein (AgRP) are coexpressed in some hypothalamic neurons and stimulate feeding, NPY via inhibition of MCR-expressing neurons, and AgRP via MCR4 antagonism. Mutation yellow at the mouse agouti locus (Ау) evokes MCR blockage and stimulates appetite in nulliparous females. …”
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Marek's disease virus-1 unique gene LORF1 is involved in viral replication and MDV-1/Md5-induced atrophy of the bursa of Fabricius. by Chenyi Bao, Jun Chu, Qi Gao, Shasha Yang, Xiaoyu Gao, Wenwen Chen, Fuchun Yang, Fei Jiang, Chenxi Tong, Mingyi Lei, Linlin Jiao, Jitong Li, Kexin Wei, Xue Lian, Kai Li, Suresh Kumar Tikoo, Nikolaus Osterrieder, Lorne A Babiuk, Yufeng Li, Yong-Sam Jung, Yingjuan Qian

“…Subsequently, rMd5ΔLORF1, a recombinant Md5 virus deficient in pLORF1 expression, was generated by a frameshift mutation in the LORF1 gene. Chickens infected with rMd5ΔLORF1 exhibited a lower mortality rate and delayed bursal atrophy than those infected with the parental rMd5 and the revertant virus (rMd5-reLORF1). …”
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Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnosti... by Netsanet Azene Gebeyehu, Solomie Jebessa Deribessa, Freeman Alexandra, Messay Tesfaye Demissie, W Mihretu Gebre, Aklilu Melaku Gebremariam, Dagmawit Mitiku Engliz, Tizita Yosef Kidane, Lidya Million Bekele, Abate Yeshidinber Weldetsadik

“…The mortality rate ranges from 40% to 80% depending on the severity of the mutation. Case. A 13-year-old female patient had multiple hospital visits since the age of 6 months. …”
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Early Delivery of Misfolded PrP from ER to Lysosomes by Autophagy by Constanza J. Cortes, Kefeng Qin, Eric M. Norstrom, William N. Green, Vytautas P. Bindokas, James A. Mastrianni

“…We found PrP carrying the disease-associated T182A mutation (Mut-PrP) was delivered to lysosomes in a Golgi-independent manner. …”
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Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy by Hugo Mendieta Zerón, David Emmanuel González Mendoza, Pamela Lagos Robles, Miriam Deyanira Rodriguez Piña

“…Machado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. …”
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