A Family with a High Incidence of Migraine and Vestibular Migraine and a Case of Menière’s Disease by Marco Familiari, Omar Gatti, Iacopo Cangiano, Roberto Teggi

“…The relationship between VM and MD is still under debate; anyway, it can be speculated that commonly shared genetic mutations could play a role as predisposing factors in both disorders. …”
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Maxillofacial Changes in Melnick-Needles Syndrome by Leilane Larissa Albuquerque do Nascimento, Monica da Consolação Canuto Salgueiro, Mariana Quintela, Victor Perez Teixeira, Ana Carolina Costa Mota, Camila Haddad Leal de Godoy, Sandra Kalil Bussadori

“…Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. …”
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RING finger protein 5 is a key anti-FMDV host factor through inhibition of virion assembly. by Wei Zhang, Weiwei Li, Yang Yang, Weijun Cao, Wenhua Shao, Mengyao Huang, Jiali Wang, Zhitong Chen, Jiantao Cai, Hongyi Liu, Xiaoyi Zhao, Xingyan Dong, Tingting Zhou, Hong Tian, Zixiang Zhu, Fan Yang, Haixue Zheng

“…Here, we find that the E3 ligase RNF5 interacts with VP1 and targets it for degradation through ubiquitination at the lys200 of VP1, ultimately inhibiting virus replication. Mutations at this lysine site have been found to increase the replication of FMDV in mice. …”
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Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature by Siobhan S. Pattwell, Eric Q. Konnick, Yajuan J. Liu, Rebecca A. Yoda, Laligam N. Sekhar, Patrick J. Cimino

“…In this report, we describe a novel PML-NTRK2 gene fusion occurring in an adult sporadic pilocytic astrocytoma and review the biology and implications of specific NTRK2 mutations occurring in CNS neoplasms.…”
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Engineering of SauriCas9 with enhanced specificity by Xiaoqi Zhang, Chen Tao, Miaomiao Li, Sufang Zhang, Puping Liang, Yan Huang, Huihui Liu, Yongming Wang

“…We addressed this by introducing mutations to eliminate polar contacts between Cas9 and the target DNA, resulting in the SauriCas9-R253A variant with enhanced specificity. …”
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Fatal Hepatic Decompensation in a Patient with Hepatitis B Cirrhosis Following Famciclovir Withdrawal by Robert P Myers, Rabindra Chaudhary, Kevin Fonseca, Samuel S Lee

“…The authors describe a 41-year-old man with compensated HBV cirrhosis who developed fatal hepatic decompensation due to a rebound in viral replication within six weeks of discontinuing famciclovir therapy. Although several mutations in the HBV DNA polymerase gene have been documented, none has been associated with famciclovir resistance or adverse clinical outcomes. …”
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Application of antisense oligonucleotide drugs in amyotrophic lateral sclerosis and Huntington’s disease by Kaili Ou, Qingqing Jia, Dandan Li, Shihua Li, Xiao-Jiang Li, Peng Yin

“…Abstract Amyotrophic lateral sclerosis (ALS) and Huntington’s disease (HD) are diverse in clinical presentation and are caused by complex and multiple factors, including genetic mutations and environmental factors. Numerous therapeutic approaches have been developed based on the genetic causes and potential mechanisms of ALS and HD. …”
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Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association? by Evangelos P. Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petropoulos, Nikos Zavras, Nikos Economopoulos, Alexandros Charalabopoulos, Anastasios Macheras

“…In these patients fibroblasts are characterized by a high rate of mutations. Herein, a case of a 39-year-old woman with FA tetraplegia, who was admitted in our department with intestinal obstruction due to a huge uterine tumor, is described. …”
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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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Spinal Cord Pathology in Alpha-Synuclein Transgenic Mice by Sonja Mendritzki, Saskia Schmidt, Teresa Sczepan, Xin-Ran Zhu, Daniel Segelcke, Hermann Lübbert

“…In previous studies with transgenic C57BL/6 mice overexpressing α-synuclein carrying the mutations A53T and A30P found in Parkinson's disease or with a parkin-null background, we reported severe mitochondrial impairments in neurons and to a larger extent in glial cells of the mesencephalon. …”
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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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Hybrid optimal control for HIV multi-drug therapies: A finite set control transcription approach by Divya Thakur, Belinda Marchand

“…An STI treatment strategy may be beneficial in lowering the risk of HIV mutating to drug-resistant strains, and could provide patients with respite from toxic side effects of HAART. …”
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Impaired Fas-Fas Ligand Interactions Result in Greater Recurrent Herpetic Stromal Keratitis in Mice by Xiao-Tang Yin, Tammie L. Keadle, Jessicah Hard, John Herndon, Chloe A. Potter, Chelsea R. Del Rosso, Thomas A. Ferguson, Patrick M. Stuart

“…We demonstrate that infection of the cornea with HSV-1 results in increased functional expression of FasL and that mice expressing mutations in Fas (lpr) and FasL (gld) display increased recurrent HSK following reactivation compared to wild-type mice. …”
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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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Peyer's Patches: The Immune Sensors of the Intestine by Camille Jung, Jean-Pierre Hugot, Frédérick Barreau

“…They have been associated with NOD2 mutations and PP dysfunction.…”
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Condensin-mediated restriction of retrotransposable elements facilitates brain development in Drosophila melanogaster by Bert I. Crawford, Mary Jo Talley, Joshua Russman, James Riddle, Sabrina Torres, Troy Williams, Michelle S. Longworth

“…Microcephaly is a disorder in which babies are born with significantly smaller head sizes and cortical volumes. Mutations in subunits of the DNA organizing complex condensin have been identified in microcephaly patients. …”
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Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibiti... by Hui Luo, Jianhua Chen, Cao Li, Tian Wu, Siyue Yin, Guangping Yang, Yipin Wang, Zhihan Guo, Saifei Hu, Yanni He, Yingnan Wang, Yao Chen, Youqiang Su, Congxiu Miao, Yun Qian, Ruizhi Feng

“…Results First, we observed a significant depletion of the EB1 signal upon microinjection of mutated TUBB8 mRNA (including R262Q, M300I, and D417N missense variants), indicating disruption of microtubule nucleation caused by these introduced TUBB8 missense variants. …”
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Előszó by Nikoletta Hendrik, Kosztasz Rosta

“…Végül Lautner Péter Szimplikiosz az epiktétoszi Kézikönyvecskéhez írott kommentárja kapcsán mutat rá arra, hogy a neoplatonikus szerző itt kifejtett nézete a lélekről – megint csak a szabad választás működése alapján – markánsan eltér az elemzett műben megismerhető sztoikus lélekfelfogástól. …”
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Durable responders in advanced NSCLC with elevated TMB and treated with 1L immune checkpoint inhibitor: a real-world outcomes analysis by David P Carbone, David Spigel, Jeffrey S Ross, Karthikeyan Murugesan, Gerald Li, Richard S P Huang, Ryon P Graf, Geoffrey R Oxnard, Alexa Schrock, Liangliang Zhang, Khaled Tolba, Jacob Sands

“…Here, we examined the complementary roles of tumor mutational burden (TMB) and programmed death ligand-1 (PD-L1) immunohistochemistry (IHC) to inform first-line therapy using a large real-world (rw) data set.Materials and methods The study included patients with NSCLC from an rw de-identified clinico-genomic database. …”
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Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma by Minh-Khang Le, Masataka Kawai, Kenta Masui, Takashi Komori, Takakazu Kawamata, Yoshihiro Muragaki, Tomohiro Inoue, Ippei Tahara, Kazunari Kasai, Tetsuo Kondo

“…Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: <i>IDH1/2</i>, <i>ATRX</i>, <i>TP53</i> mutations, <i>TERT</i> promoter mutations, <i>CDKN2A/B</i> homozygous deletion (CHD), <i>EGFR</i> amplification (<i>EGFR</i>amp), 7 gain/10 loss (7+/10−), 1p/19q co-deletion, and <i>MGMT</i> promoter methylation. …”
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