Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 by Isabelle Riße, Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse

“…We generated an isogenic series of heterozygous and homozygous genome-edited human induced pluripotent stem cell (hiPSC) lines with the BAG3P209L-mutation and its control. For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. …”
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Evaluating ddPCR and RT-qPCR methods for PIK3CA mutation detection in head and neck cancer via precision oncology by Akankshya Dash, Chinnasamy Ragavendran

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Les trois âges de l’intermédiation financière de la Poste (1881-2010) : révélateurs des mutations des rapports sociaux by Nadège Vezinat

“…Post’s institutional trajectory participated in French banking offer and in mutations of social stratification as well. In this paper, I identify three historical periods of financial intermediation and make use of this periodization to shed a fresh light on social classes. …”
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Somatic mutation correlation with lymph node metastasis and prognosis in T1/2 stage colorectal cancer patients: A propensity score matching analysis by Junwei Tang, Yue Zhang, Dongjian Ji, Lu Wang, Han Zhuo, Yaping Wang, Yueming Sun

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P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma by Sarah Bouri, Philippe Simon, Nicky D’Haene, Xavier Catteau, Jean-Christophe Noël

“…We report here the first case of mucinous ovarian tumor in which mutation of the PIK3CA and P53 genes could be demonstrated by the next generation sequencing technique without KRAS mutation or HER2 amplification. …”
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Study Protocol of the Korean EGFR Registry: A Multicenter Prospective and Retrospective Cohort Study in Nonsmall Cell Lung Cancer Patients With EGFR Mutation by Chang Dong Yeo, Dong Won Park, Seong Hoon Yoon, Eun Young Kim, Jeong Eun Lee, Shin Yup Lee, Chang‐Min Choi, In‐Jae Oh, Do Jin Kim, Jeong Seon Ryu, Jae Cheol Lee, Young‐Chul Kim, Tae Won Jang, Kye Young Lee, Seung Hun Jang, Seung Joon Kim, for the Korean EGFR Registry Investigators

“…ABSTRACT Introduction The provision of treatment for epidermal growth factor receptor (EGFR)‐mutated nonsmall cell lung cancer (NSCLC) patients has increased in Korea. …”
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Le développement professionnel des enseignants dans des situations de mutation : une analyse au prisme de l’expertise documentaire by Anita Messaoui

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Sex and outcomes of patients with microsatellite instability-high and BRAF V600E mutated metastatic colorectal cancer receiving immune checkpoint inhibitors by Michael Hoffmeister, Hermann Brenner, Chiara Cremolini, Sara Lonardi, Filippo Pietrantonio, Julien Taieb, David Tougeron, Robyn L Ward, Marco Vitellaro, Thierry André, Pierre Laurent-Puig, Jitendra Jonnagaddala, Francesca Bergamo, Raghav Sundar, Claire Gallois, Michael J Overman, Jakob Nikolas Kather, Lisa Salvatore, Romain Cohen, Rossana Intini, Priya Jayachandran, Miriam Koopman, Javier Ros, Marwan Fakih, Vincenzo Nasca, Giacomo Mazzoli, Jeanine M L Roodhart, Filippo Ghelardi, Elena Elez, Durgesh Wankhede, Marta Ligero, Joseph Zhao, Koen Zwart, Jeroen Derksen, Nicholas Hawkins, Javier Carmona

“…Exploratory transcriptomic analyses suggest that tumors of males with BRAF mutated MSI-H metastatic CRC are characterized by an enrichment of androgen receptor signature and an immune-depleted microenvironment, with a reduction in memory B cells, activated natural killer cells, and activated myeloid dendritic cells.Conclusions Overall, our findings suggest a complex interplay between sex and BRAF mutational status that may modulate the activity of ICIs in patients with MSI-H mCRC and pave the way to novel tailored strategies.…”
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Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? by Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca

“…Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G→A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T→C mutation and developed a T-cell lymphoma so far never described in this group of patients.…”
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Case report: Personalized management of treatment resistance in advanced NSCLC patients with mutated epidermal growth factor receptor: special examples and literature review by Jun Wang, Jun Wang, Xiaojing Li, Shuang Dong, Sheng Hu, Fengming Ran, Yu Qian

“…The first subclass involves the acquisition of target mutations that lead to changes in the kinase domain, thereby hindering drug binding. …”
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Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis by Soyoung Park, Youngil Koh, Sung-Soo Yoon

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Bernard Pecqueur, Fabien Nadou, 2018, Dynamiques territoriales et mutations économiques – Transition, intermédiaire, innovation, L’Harmattan, Paris, 296 pages. by Fabienne Leloup

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Adaptation for Staphylococcus aureus to hosts via insertion mutation in the accessory gene regulator agrC gene: decreased virulence and enhanced persistence capacity by Jiawei Chen, Yun Wu, Ying Zhu, Li Zhang, Yingchun Xu, Yali Liu

“…Therefore, monitoring these mutations in S. aureus is crucial clinically, as they can complicate treatment strategies.…”
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Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract by Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

“…To investigate the clinical characteristics and pathogenic genetic mutations of a Chinese family with anterior segment mesenchymal dysgenesis and congenital posterior polar cataract. …”
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Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families by Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi

“…PIEZO1 gene sequencing revealed the presence of mutation p.E2496ELE, showing that this is one of the most frequent mutations in this disease. …”
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V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I by Kwo Wei David Ho, Nivedita U. Jerath

“…Although most of these mutations produce sensory loss, it is unclear which mutations would lead to the painful phenotype. …”
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Relationship among Tobacco Habits, Human Papilloma Virus (HPV) Infection, p53 Polymorphism/Mutation, and the Risk of Oral Squamous Cell Carcinoma by Neha Gupta, Gargi Yumnam, Chetan Sharma, Avani Patel, Ripudaman Sharma, Sachin Dev, Mahesh Ghadage

“…Logistic regression revealed synergistic effects between tobacco use and HPV infection (OR 5.2, 95% CI 3.0–9.0) and additive effects with p53 mutations (OR 3.5, 95% CI 2.0–6.0). Conclusion: Tobacco habits, HPV infection, and p53 polymorphisms/mutations independently and synergistically contribute to the risk of OSCC. …”
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Small cell conversion complicated with hypertrophic pulmonary osteoarthropathy after targeted therapy for advanced EGFR-mutated lung adenocarcinoma: A case report by Sijia Zhang, Leichong Chen, Kuikui Zhu, Rui Meng

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Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis by Ghazi Elamin, Ghazi Elamin, Zhichao Zhang, Depika Dwarka, Kabange Kasumbwe, John Mellem, Nompumelelo P. Mkhwanazi, Paradise Madlala, Paradise Madlala, Mahmoud E. S. Soliman

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Targeting KRAS G12C and G12S mutations in lung cancer: In silico drug repurposing and antiproliferative assessment on A549 cells by Mansour S. Alturki, Nada Tawfeeq, Amal Alissa, Zahra Ahbail, Mohamed S. Gomaa, Abdulaziz H. Al Khzem, Thankhoe A. Rants'o, Mohammad J. Akbar, Waleed S. Alharbi, Bayan Y. Alshehri, Amjad N. Alotaibi, Fahad A. Almughem, Abdullah A. Alshehri

“…The RAS protein is a notable target in cancer research, being the most often mutated oncogene in human malignancies. The RAS G12X mutation is predominantly found in non-small cell lung cancer, including G12C and G12S variants, which are associated with a poor prognosis. …”
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