The Possible Role of TLR2 in Chronic Hepatitis B Patients with Precore Mutation by Malihe Moradzadeh, Sirous Tayebi, Hossein Poustchi, Kourosh Sayehmiri, Parisa Shahnazari, Elnaz Naderi, Ghodratollah Montazeri, Ashraf Mohamadkhani

“…In this study, the frequency of precore mutations of the hepatitis B virus (HBV) and serum TLR2 were evaluated in CHB patients. …”
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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations by Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané

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Systematic analysis of Fc mutations designed to enhance binding to Fc-gamma receptors by Geoff Hale, Alastair Douglas Davy, Ian Wilkinson

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Association of PIK3CA somatic mutations with clinicopathological parameters in breast cancer by Gizem Teoman, Zeynep Turkmen Usta, Zeynep Sagnak Yilmaz, Sevdegul Aydin Mungan, Ismail Saygin

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A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation by Adamantia Nikolaidi, Irene Konstantopoulou, Nikolaos Pistalmantzian, Florentia Fostira, Drakoulis Yannoukakos, Ilias Athanasiadis

“…The patient underwent germline gene-panel testing for the detection of mutations in cancer predisposing genes. A truncating mutation in the Fanconi anemia complementation group M (FANCM) gene was detected in heterozygosity, namely, p.Arg658Ter (c.1972C>T, rs368728266). …”
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Systematic analysis of Fc mutations designed to reduce binding to Fc-gamma receptors by Geoff Hale, Jelle De Vos, Alastair Douglas Davy, Koen Sandra, Ian Wilkinson

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A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene by Christin B. Laufer, Layne B. Green, Darren E. Whittemore

“…She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. …”
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Ultrasound Radiogenomics-based Prediction Models for Gene Mutation Status in Breast Cancer by Zhai Yue, Tan Dianhuan, Lin Xiaona, Lv Heng, Chen Yan, Li Yongbin, Luo Haiyu, Dan Qing, Zhao Chenyang, Xiang Hongjin, Zheng Tingting, Sun Desheng

Subjects: “…|ultrasound|radiogenomics|breast cancer|gene mutation|prediction models…”
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Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism by Rami Salameh, Mumtaheena Miah, Catherine Anastasopoulou

“…Also, it shows possible association between MTHFR gene mutation and male hypogonadism.…”
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High-throughput method characterizes hundreds of previously unknown antibiotic resistance mutations by Matthew J. Jago, Jake K. Soley, Stepan Denisov, Calum J. Walsh, Danna R. Gifford, Benjamin P. Howden, Mato Lagator

“…Abstract A fundamental obstacle to tackling the antimicrobial resistance crisis is identifying mutations that lead to resistance in a given genomic background and environment. …”
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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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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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