Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary by Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You

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Applications of MR Finger printing derived T1 and T2 values in Adult brain: A Systematic review [version 1; peer review: 2 approved] by Rajagopal Kadavigere, Obhuli Chandran M, Kaushik Nayak, Abhijith S, Saikiran Pendem, Varsha Raghu, Shailesh Nayak S, Riyan Mohamed Sajer, Tancia Pires, Priyanka -

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Variation of fatty acid composition in seed oil in the collection of induced oil flax (Linum humile Mill.) mutants by A. V. Tigova, A. I. Soroka

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Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation by Harshini Surendran, Rajani Battu, Renjitha Gopurappilly, Chethala N. Vishnuprasad, Rajarshi Pal

“…The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. …”
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Detection of I491F and V170F rpoB mutations associated with misdiagnosis of rifampicin resistance among patients with drug-susceptible tuberculosis treatment failure, Myanmar, 2022 by Phyu Win Ei, Mi Mi Htwe, Myat Htut Nyunt, Aye Su Mon, Zaw Myint, Wint Wint Nyunt, Su Mon Win, Sandar Aung, Wai Myat Thwe, Wah Wah Aung

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A cost-effectiveness analysis of sotorasib as second-line treatment for patients with KRAS-G12C-mutated metastatic non-small cell lung cancer (mNSCLC) in Switzerland by Tämer El Saadany, Judith Lupatsch, Michael Mark, Michaela Barbier, Tarun Mehra, Matthias Schwenkglenks, Roger von Moos

“… BACKGROUND AND OBJECTIVE: Because of the lack of effective targeted treatment options, docetaxel has long been the standard second-line therapy for patients with advanced non-small cell lung cancer, including the Kirsten rat sarcoma virus (KRAS) G12C mutation. The CodeBreak 200 trial demonstrated that sotorasib, a new drug targeting the G12C-mutated KRAS protein, modestly improved progression-free survival compared with docetaxel in patients whose cancer had progressed after receiving platinum chemotherapy and programmed cell death protein 1 (PD-1) / programmed death ligand 1 (PD-L1) inhibitors as first-line treatment. …”
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Can smoking duration alone replace pack-years to predict the risk of smoking-related oncogenic mutations in non-small cell lung cancer? A cross-sectional study in Japan by Masahiko Ando, Yoshihiko Taniguchi, Akihiro Tamiya, Akihide Matsumura, Koichi Ogawa, Yasuhiro Koh, Hiroyasu Kaneda, Motohiro Izumi, Yoshiya Matsumoto, Kenji Sawa, Mitsuru Fukui, Naoki Yoshimoto, Akihito Kubo, Shun-ichi Isa, Hideo Saka, Tomoya Kawaguchi

“…There were no significant differences between the AUC values for smoking duration and pack-years in terms of predicting TP53 and EGFR mutations and C>A. Pack-years was a significantly better predictor of KRAS mutations than smoking duration.Conclusion Smoking duration was not significantly different from pack-years in predicting the likelihood of smoking-related gene mutations. …”
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Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation by Yeye Zhang, Ye Chen, Jun Fan, Guangzhao Lu, Qianzhou Lv, Donghui Lao, Xiaoyu Li

“…Autosomal dominant polycystic kidney disease (ADPKD), a single-gene-inherited kidney disease, is a common cause of end-stage kidney disease (ESKD). The PKD1 gene mutation is the most common cause of ADPKD, accounting for approximately 78% of cases. …”
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Case report: A case report and literature review on the efficacy of high-dose aumolertinib combined intrathecal pemetrexed by Ommaya reservoir for EGFR-mutated NSCLC with leptomeningeal metastasis as the initial symptoms by Maoxi Zhong, Maoxi Zhong, Maoxi Zhong, Li Zhou, Li Zhou, Li Zhou, Jing Guo, Jing Guo, Jing Guo, Chuan Chen, Chuan Chen, Chuan Chen, Wei Wang, Wei Wang, Wei Wang, Xiaoping Huang, Xiaoping Huang, Xiaoping Huang, Yi Liu, Yi Liu, Yi Liu

“…Here we present a case report of an EGFR-mutated NSCLC patient who presented with LM as the primary clinical manifestation, and review the latest advances in existing studies on LM-related treatment. …”
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Construction of feature selection and efficacy prediction model for transformation therapy of locally advanced pancreatic cancer based on CT, 18F-FDG PET/CT, DNA mutation, and CA199 by Liang Qi, Xiang Li, Jiayao Ni, Yali Du, Qing Gu, Baorui Liu, Jian He, Juan Du

“…Among them, 65 patients had efficacy evaluation results after 4 treatment cycles, 54 patients had complete baseline PET/CT images, 51 patients had complete DNA mutation detection results, and 34 patients had both complete PET/CT images and DNA mutation detection results. …”
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Combined mutations in nonstructural protein 14, envelope, and membrane proteins mitigate the neuropathogenicity of SARS-CoV-2 Omicron BA.1 in K18-hACE2 mice by Kotou Sangare, Shufeng Liu, Prabhuanand Selvaraj, Charles B. Stauft, Matthew F. Starost, Tony T. Wang

“…Here, we assessed the pathogenicity of SARS-CoV-2 (WA1/2020) containing mutations from the Omicron BA.1 variant in K18-hACE2 mice. …”
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A mutation in porcine pre-miR-15b alters the biogenesis of MiR-15b\16-1 cluster and strand selection of MiR-15b. by Wenyang Sun, Jing Lan, Lei Chen, Jinjie Qiu, Zonggang Luo, Mingzhou Li, Jinyong Wang, Jiugang Zhao, Tinghuan Zhang, Xi Long, Jie Chai, Zunqiang Yan, Zongyi Guo, Shuangbao Gun

“…These results serve to highlight the importance of miRNA mutations and their impacts on miRNA biogenesis.…”
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Le bien-être au travail en mutation chez les enseignants - une nouvelle approche guidée par la théorie culturelle et historique de l’activité by Kirsti Launis, Annarita Koli

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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene. This study also conducted a narrative review of the literature to identify key clinical and genetic characteristics of XLID caused by mutations in the KDM5C gene. …”
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EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 by Agata M. Bogusz

“…Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.…”
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A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene by Chunyan Huang, Liying Qiu, Wenyan Zhou, Congwen Shao, Xichun Wang, Qiwen Zhang, Weilin Chen, Min Xiong, Min Huang, Mei Tang, Liangyu Zou, Xueqing Xu

“…Our research group has previously established an induced pluripotent stem (iPS) cell line harboring the c.1562G > A mutation in the FUS gene. The objective of this study is to create another iPS cell line featuring the pathogenic c.1126C > T mutation in the FUS gene. …”
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Corrigendum to “Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene” by Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, Shinsaku Imashuku

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Derivation of induced pluripotent stem cell TUSMi013-A from a 66-year-old Chinese Han Parkinson’s disease patient carrying VPS13C and TBP mutations by Can Cui, Jian Chen, Hao Shen, Bei Zhang

“…The present study was designed to establish an iPSC line, designated TUSMi013-A, from the dermal fibroblasts of a 66-year-old female afflicted with PD, harboring mutations in VPS13C and TBP. This iPSC line offers a significant resource for the dissection of PD etiology and the innovation of novel therapeutic strategies.…”
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Effect of Interferon-γ on the Basal and the TNFα-Stimulated Secretion of CXCL8 in Thyroid Cancer Cell Lines Bearing Either the RET/PTC Rearrangement Or the BRAF V600e Mutation by Mario Rotondi, Francesca Coperchini, Oriana Awwad, Patrizia Pignatti, Christian A. Di Buduo, Vittorio Abbonante, Flavia Magri, Alessandra Balduini, Luca Chiovato

“…These results constitute the first demonstration that IFNγ inhibits CXCL8 secretion and in turn the migration of a BRAF V600e mutated thyroid cell line.…”
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Blanchisseuses du propre, blanchisseurs du pur. Les mutations genrées de l’art du linge à l’âge des révolutions textiles et chimiques (1750-1820) by Raphaël Morera, Thomas Le Roux

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