Promoted read-through and mutation against pseudouridine-CMC by an evolved reverse transcriptase by Zhiyong He, Weiqi Qiu, Huiqing Zhou

“…The mutation signatures resolve the position of Ψ in UU-containing sequences, revealing diverse occurrence of Ψs in such sequences. …”
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The frequency of mutations in advanced thyroid cancer in Japan: a single-center study by Soji Toda, Hiroyuki Iwasaki, Yoichiro Okubo, Hiroyuki Hayashi, Mei Kadoya, Hiroyuki Takahashi, Tomoyuki Yokose, Yukihiko Hiroshima, Katsuhiko Masudo

“…Of ATC cases, 52.9% had BRAF mutations, and 5.9% had RET fusion. Of PTC cases, 83.1% had BRAF mutations, 9.2% had RET fusion, and 1.5% had NTRK fusion. …”
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DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil by Annelise Pezzi, Lauro Moraes, Vanessa Valim, Bruna Amorin, Gabriela Melchiades, Fernanda Oliveira, Maria Aparecida da Silva, Ursula Matte, Maria S. Pombo-de-Oliveira, Rosane Bittencourt, Liane Daudt, Lúcia Silla

“…We found mutations in the DNMT3A gene in 6 patients (8%); 3 were type R882H. …”
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Mutations in Mycobacterium tuberculosis Isolates with Discordant Results for Drug-Susceptibility Testing in Peru by L. Solari, D. Santos-Lazaro, Z. M. Puyen

“…Several other mutations are reported. This is the first study in Latin America addressing mutations present in strains with discordant results between genotypic and phenotypic methods to rifampicin and isoniazid. …”
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Le cinéma indonésien, miroir déformant d’une société en mutation by Jean-Baptiste Bing

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EFFECT OF COAT COLOR MUTATIONS ON HAIR AND SKIN STRUCTURE IN POLECATS (MUSTELA PUTORIUS) by O. I. Fedorova

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Mitochondrial DNA Mutations Cause Disease, Apoptosis, and Permeability Transition Pore Dysfunction by L. Mott Justin, Zhang Dekui, H. Peter Zassenhaus

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Exploring the potential role of EPSPS mutations for enhanced glyphosate resistance in Nicotiana tabacum by Bingjie Li, Bingjie Li, Chen Chen, Chen Chen, Mengmeng Cui, Yuhe Sun, Jing Lv, Changbo Dai

“…In this study, we engineered two mutant variants of the tobacco EPSPS gene through amino acid substitution (TIPS-NtEPSPS and P180S-NtEPSPS). These mutated EPSPS genes were overexpressed in tobacco under the control of CaMV35S promoters. …”
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“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case by Anne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, Caroline Silve, Anne-Margaux Collignon, Celine Gaucher

“…However, all affect the quality of life because of mechanical, psychological, esthetic, and/or social repercussions. Several gene mutations have been linked to AI as a nonsyndromic (isolated) phenotype or a wider syndrome. …”
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Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma by Elisabetta Cavedon, Susi Barollo, Loris Bertazza, Gianmaria Pennelli, Francesca Galuppini, Sara Watutantrige-Fernando, Simona Censi, Maurizio Iacobone, Clara Benna, Federica Vianello, Stefania Zovato, Davide Nacamulli, Caterina Mian

“…This study investigated the role of miR-224 expression in MTC and correlated it with mutation status in sporadic MTCs. A consecutive series of 134 MTCs were considered. …”
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Uncommon BRAF Mutations Associated with Durable Response to Immunotherapy in Patients with Metastatic Melanoma by Brenen P. Swofford, Jade Homsi

“…Other BRAF mutations (non-V600 mutations) are rare in melanoma and targeted therapy is not indicated for patients with these mutations due to reduced response rates. …”
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Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms by Raunak Rao, Spoorthy Kulkarni, Ian B. Wilkinson

“…Herein, we report two independent cases of severe hypertension in JAK2 mutation-positive myeloproliferative neoplasms. Case Presentations. …”
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GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report by Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee

“…Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.…”
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Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice by Kamila Borowczyk, Jacek Wróblewski, Joanna Suliburska, Noriyuki Akahoshi, Isao Ishii, Hieronim Jakubowski

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Deconstructing the Politics of Linguistic Mutation in Tom Stoppard’s Dogg’s Hamlet, Cahoot’s Macbeth by Sarra Jouini

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CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review by Sandra Sabbagh, Stephanie Antoun, André Mégarbané

“…They are related to mutations in the CNTNAP1 (contactin associated protein 1) gene, playing an important role in myelination. …”
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Myeloid Disease with the CSF3R T618I Mutation after CLL by Maria Eduarda Couto, Susana Bizarro, Domingos Sousa, Nelson Domingues, Isabel Oliveira, Gabriela Martins, Manuel R. Teixeira, Mário Mariz

“…A peripheral blood search for the CSF3R mutation (T618I) was positive, also suggesting Chronic Neutrophilic Leukemia (CNL). …”
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Imatinib-resistance without BCR/ABL Point Mutation in Chronic Myeloid Leukemia by Aytan Shirinova

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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation by Zahra Alsahlawi, Mohamed Jailani, Husain Alaradi, Abdulaziz AlAbbad

“…DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. …”
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An Approach of Vulnerability Testing for Third-Party Component Based on Condition and Parameter Mutation by Jinfu Chen, Jiamei Chen, Yongzhao Zhan, Weihe Chen, Rubing Huang

“…In this paper, an approach of vulnerability testing is proposed based on condition mutation and parameter mutation in order to effectively detect the explicit vulnerabilities of third-party components. …”
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