A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

“… Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and RFVT3, respectively. …”
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Antibiotic-associated diarrhea: state-of-the-art by D. V. Piliev, S. I. Achkasov, T. K. Korneva, O. I. Sushkov

“…This etiological agent in modern world has got significant association with hospitals and assisted-care facilities, therefore it can spread in out-patient conditions as well at the present time. Mutations resulting in antibiotic resistance, increasing toxin production or promoting sporulation, considerably increase virulence and prevalence of these opportunistic microorganisms.Conclusion. …”
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Identification of Mycobacterium tuberculosis and its Drug Resistance by Targeted Nanopore Sequencing Technology by Chen Tang, Feng Xu, Xiaoqun Zheng, Guangxin Xiang

“…Traditional culture-based phenotypic drug susceptibility testing is time-consuming, and PCR-based assays are restricted to detecting known mutational hotspots. In this study, we present a protocol leveraging high-throughput nanopore sequencing technology in conjunction with multiplex PCR, termed targeted nanopore sequencing, for the identification of MTB and analysis of its drug resistance. …”
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INTESTINAL MICROBIOME - A LEADING FACTOR IN HUMAN HEALTH AND DISEASES by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical studies it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms within genome-wide association analyses (GWAS). …”
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The prognosis and metabolite changes of NSCLC patients receiving first‐line immunotherapy combined chemotherapy in different M1c categories according to 9th edition of TNM classifi... by Liang Zheng, Fang Hu, Wei Nie, Jun Lu, Bo Zhang, Jianlin Xu, Shuyuan Wang, Ying Li, Xiaoxuan Zheng, Wei Zhang, Yinchen Shen, Runbo Zhong, Tianqing Chu, Baohui Han, Hua Zhong, Xueyan Zhang

“…The primary frontline therapy for patients with advanced non‐small cell lung cancer (NSCLC), lacking driver gene mutations, involves the use of immune checkpoint inhibitors (ICIs) combined with chemotherapy. …”
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Genomic analysis of antimicrobial resistant Escherichia coli isolated from manure and manured agricultural grasslands by C. Tyrrell, C. M. Burgess, F. P. Brennan, D. Münzenmaier, D. Drissner, R. J. Leigh, F. Walsh

“…Whole genome sequencing identified 31 antimicrobial resistance genes, and mutations in the gyrA, parC, and parE genes, conferring fluoroquinolone resistance. …”
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Whole genomic analysis uncovers high genetic diversity of rifampicin-resistant Mycobacterium tuberculosis strains in Botswana by Tuelo Mogashoa, Tuelo Mogashoa, Johannes Loubser, Ontlametse T. Choga, Ontlametse T. Choga, Justice Tresor Ngom, Wonderful T. Choga, Wonderful T. Choga, Mpaphi B. Mbulawa, Tuduetso Molefi, One Stephen, Topo Makhondo, Kedumetse Seru, Patience Motshosi, Boitumelo Zuze, Joseph Makhema, Rosemary M. Musonda, Dimpho Otukile, Chawangwa Modongo, Botshelo T. Kgwaadira, Keabetswe Fane, Simani Gaseitsiwe, Rob M. Warren, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Anzaan Dippenaar, Elizabeth M. Streicher

“…No bedaquiline and delamanid resistance-associated mutations were detected.ConclusionsThis study highlights the high genetic diversity of M. tb strains, with a predominance of lineage 4 among people with RR-TB in Botswana. …”
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Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes by Sowmiya Palani, Yuka Machida, Julia R. Alvey, Vandana Mishra, Allison L. Welter, Gaofeng Cui, Benoît Bragantini , Maria Victoria Botuyan, Anh T. Q. Cong, Georges Mer, Matthew J. Schellenberg, Yuichi J. Machida

“…Abstract FAM111A, a serine protease, plays roles in DNA replication and antiviral defense. Missense mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic disorders with developmental defects. …”
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Mutant glycosidases for labeling sialoglycans with high specificity and affinity by Shuyu Liang, Qi Tang, Xunzi Guo, Zi’an Li, Yilan Guo, Jinghan Chang, Bo Cheng, Qitao Song, Jiayu Sun, Peng Dai, Xing Chen

“…Here we report the development of glycan recombinant affinity binders (GRABs) based on mutant bacterial sialidases, which are enzymatically inactive but preserve stringent specificity for sialoglycan substrates. By mutating a key catalytic residue of Streptococcus pneumoniae neuraminidase A (SpNanA) and Ruminococcus gnavus neuraminidase H (RgNanH), we develop GRAB-Sia and GRAB-Sia3 recognizing total sialoglycans and α2,3-sialosides, respectively. …”
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Identification of selective SWI/SNF dependencies in enzalutamide-resistant prostate cancer by Bengul Gokbayrak, Umut Berkay Altintas, Shreyas Lingadahalli, Tunc Morova, Chia-Chi Flora Huang, Betul Ersoy Fazlioglu, Ivan Pak Lok Yu, Batuhan M. Kalkan, Paloma Cejas, Sonia H. Y. Kung, Ladan Fazli, Akane Kawamura, Henry W. Long, Ceyda Acilan, Tamer T. Onder, Tugba Bagci-Onder, James T. Lynch, Nathan A. Lack

“…Given that many enzalutamide-resistant tumors lack specific somatic mutations, there is strong evidence that epigenetic factors can cause enzalutamide resistance. …”
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Prion protein promotes copper toxicity in Wilson disease by Raffaella Petruzzelli, Federico Catalano, Roberta Crispino, Elena V. Polishchuk, Mariantonietta Elia, Antonio Masone, Giada Lavigna, Anna Grasso, Maria Battipaglia, Lucia Vittoria Sepe, Banu Akdogan, Quirin Reinold, Eugenio Del Prete, Diego Carrella, Annalaura Torella, Vincenzo Nigro, Enrico Caruso, Nicole Innocenti, Emiliano Biasini, Ludmila V. Puchkova, Alessia Indrieri, Ekaterina Y. Ilyechova, Pasquale Piccolo, Hans Zischka, Roberto Chiesa, Roman S. Polishchuk

“…Dysfunction in key components of this network leads to the disruption of Cu homeostasis, resulting in fatal disorders such as Wilson disease, which is caused by mutations in the hepatic Cu efflux transporter ATP7B. …”
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Gemcitabine combined with baicalein exerts antiviral activity against PEDV by inhibiting the entry and replication phases by Yingge Zheng, Yanfei Zhang, Fangying Xiong, Dehua Luo, Yuxiang Wang, Yijia Zhang, Dengguo Wei

“…Abstract Cocktail therapy significantly reduces the development of resistance to individual medications due to viral mutations. However, for effective inhibition of a particular virus, a customized approach to combination pharmacotherapy may be essential. …”
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Exploring the association between air pollution and the incidence of liver cancers by Xin Wu, Xin Zhang, Xiaopeng Yu, Hongyuan Liang, Shaoshan Tang, Yao Wang

“…Mechanistically, air pollutants may cause liver damage by inducing oxidative stress, inflammation, and genetic mutations, contributing to cancer development. Epidemiological evidence from cohort and geographic studies highlights a positive correlation between long-term exposure to air pollutants and elevated incidence and mortality of liver cancer. …”
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Androgen receptor dynamics in prostate cancer: from disease progression to treatment resistance by Caihong Li, Dongkai Cheng, Peng Li

“…The androgen receptor (AR) on the X chromosome is a central driver in this process, activating genes that govern proliferation and survival. Mutations and amplifications of the AR are closely associated with disease progression and treatment resistance. …”
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Implications of intratumoral microbiota in tumor metastasis: a special perspective of microorganisms in tumorigenesis and clinical therapeutics by Lei Zhang, Xichu Duan, Yanhua Zhao, Dejiu Zhang, Yuan Zhang

“…Intratumoral microbiota can modulate tumor progression through multiple mechanisms, including regulating immune responses, inducing genomic instability and gene mutations, altering metabolic pathways, controlling epigenetic pathways, and disrupting cancer-related signaling pathways. …”
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Targeting TRPM3 as a potential therapeutic approach for autosomal dominant polycystic kidney disease by Hüseyin Gül, Jamie A. Davies

“…Most ADPKD cases are caused by mutations in PKD1 or PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2). …”
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Cell-free assays reveal that the HIV-1 capsid protects reverse transcripts from cGAS immune sensing. by Tiana M Scott, Lydia M Arnold, Jordan A Powers, Delaney A McCann, Ana B Rowe, Devin E Christensen, Miguel J Pereira, Wen Zhou, Rachel M Torrez, Janet H Iwasa, Philip J Kranzusch, Wesley I Sundquist, Jarrod S Johnson

“…Viral DNA could be "deprotected" by thermal stress, capsid mutations, or reduced concentrations of inositol hexakisphosphate (IP6) that destabilize the capsid. …”
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Gastrointestinal stromal tumors by A. P. Seryakov

“…Diagnostics, treatment and outcome at patients with GIST underwent significant changes for last 10 years due to discovering of molecular mechanisms, resulting in development of tumor: activated mutations of KITand PDGFR α-tyrosine kinase. These findings promoted development of tyrosine kinase inhibitor – imatinib which demonstrated essential advantage in terms of survival rate of patients. …”
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The promising role of nanopore sequencing in cancer diagnostics and treatment by Xinming Su, Qingyuan Lin, Bin Liu, Chuntao Zhou, Liuyi Lu, Zihao Lin, Jiahua Si, Yuemin Ding, Shiwei Duan

“…In the context of DNA analysis, nanopore sequencing excels in identifying structural variations (SVs), copy number variations (CNVs), gene fusions within SVs, and mutations in specific genes, including those involving DNA modifications and DNA adducts. …”
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A review of vitamin D deficiency and vitamin D receptor polymorphisms in endocrine-related disorders by Nur Faten Hafizah Rosli, Noor Shafina Mohd Nor, Rose Adzrianee Adnan, Siti Hamimah Sheikh Abdul Kadir

“…In the past few decades, the human skin has been identified as an important peripheral endocrine organ that is the main site for the synthesis of vitamin D through exposure to sunlight. Mutations in downstream vitamin D-related gene pathways are associated with disease development. …”
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