BRAF V600E-mutated lung adenocarcinoma with thyroid metastasis as the initial manifestation: a case report by Yufei Liu, Yufei Liu, Hanhan Lei, Hanhan Lei, Lingling Cai, Lingling Cai, Yuyan Tan, Xinyu Song

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Effect of RAS mutations and related immune characteristics on the prognosis of patients with MSI-H/dMMR colorectal cancer by Yupeng Jiang, Yuyao Liu, Hong Huang, Tiantian Zhao, Zengyi Zhao, Yawen Gao

Subjects: “…RAS mutation…”
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Exploring the NANOG-TET2 interaction interface. Effects of a selected mutation and hypothesis on the clinical correlation with anemias by Claudia Testi, Roberta Piacentini, Roberta Piacentini, Alessandro Perrone, Chiara Bartoli, Daniele Leso, Domitilla Pavia, Elisa Pistolesi, Flavio Scipione, Irene Cotronea, Marco Adinolfi Falcone, Marco Ierani, Alberto Boffi, Lorenzo Di Rienzo

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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega

“…Subsequently, a nonsense mutation (c.926 C>G; p.S309⁎) in FAM134B was identified. …”
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A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family by Yu Zhou, Yaru Zhai, Lulin Huang, Bo Gong, Jie Li, Fang Hao, Zhengzheng Wu, Yi Shi, Yin Yang

“…Thus, the heterozygous mutation c.499T<G (p.E167X) in CRYBB2 was the causal mutation responsible for this ADCC family. …”
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Combination of Dabrafenib and Trametinib for the Treatment of Relapsed and Refractory Multiple Myeloma Harboring BRAF V600E Mutation by Rūta Čepulytė, Andrius Žučenka, Valdas Pečeliūnas

“…New therapies, including BRAF V600E mutation targeting, may become a new treatment option for R/R MM. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

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Characterizing mutation-treatment effects using clinico-genomics data of 78,287 patients with 20 types of cancers by Ruishan Liu, Shemra Rizzo, Lisa Wang, Nayan Chaudhary, Sophia Maund, Marius Rene Garmhausen, Sarah McGough, Ryan Copping, James Zou

“…Abstract Evaluating the effectiveness of cancer treatments in relation to specific tumor mutations is essential for improving patient outcomes and advancing the field of precision medicine. …”
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Leveraging mobility data to analyze persistent SARS-CoV-2 mutations and inform targeted genomic surveillance by Riccardo Spott, Mathias W Pletz, Carolin Fleischmann-Struzek, Aurelia Kimmig, Christiane Hadlich, Matthias Hauert, Mara Lohde, Mateusz Jundzill, Mike Marquet, Petra Dickmann, Ruben Schüchner, Martin Hölzer, Denise Kühnert, Christian Brandt

“…We identified the existence and spread of nine persistent mutation variants within the Alpha lineage, seven of which formed separate phylogenetic clusters with different spreading patterns in Thuringia. …”
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Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) by Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu

“…In addition, no mutation was found in the other members of the family. …”
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La 44e élection présidentielle :un événement révélateur des mutations de la société américaine by Cynthia Ghorra-Gobin

“…La 44e élection présidentielle américaine n’est pas un simple événement d’actualité mais un moment de la scène politique américaine qui condense et rend compte de manière significative des mutations de la société. C’est dans cette perspective que s’inscrit ce premier texte rédigé au moment où les deux partis politiques (au travers des délégués) ont désigné leur candidat après une série d’élections qui se sont déroulé dans les Etats de la fédération. …”
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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice by Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee

“…However, the mechanism behind genetic mutations in the non-coding region of genes that affect epigenetic modifications remains unclear. …”
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Wnt/ β-catenin and CTNNB1 gene mutation in hepatocellular carcinoma, a case study in Egyptian patients by Ramy A. Abdelsalam, Ibrahim M. El-Shawaf, Azza Abdel-Aziz, Tarek A. Bismar, Shaimaa M. Yussif

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A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss by Chi Zhang, Mingming Wang, Yun Xiao, Fengguo Zhang, Yicui Zhou, Jianfeng Li, Qingyin Zheng, Xiaohui Bai, Haibo Wang

“…In this study, we describe a pathogenic nonsense mutation located in POU4F3 in a four-generation Chinese family. …”
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IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice by Tingwenyi Hu, Xiangrong Tang, Tiechao Ruan, Shunhua Long, Guicen Liu, Jing Ma, Xueqi Li, Ruoxuan Zhang, Guoning Huang, Ying Shen, Tingting Lin

“…Methods We recruited a cohort of 323 infertile males with ASZ between August 2019 and June 2024. Genetic mutations were identified by whole-exome sequencing. …”
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BOISSIÈRE Thierry (dir.), Chaalan : formation et mutations d’un quartier de Damas : 1920-2010 by Franck Mermier

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Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy by Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek

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HA198 mutations in H9N2 avian influenza: molecular dynamics insights into receptor binding by Rui Zhu, Rui Zhu, Rui Zhu, Jie Wu, Ruiying Chen, Mo Zhou, Mo Zhou, Mo Zhou, Shinuo Cao, Shinuo Cao, Shinuo Cao, Zhi Wu, Zhi Wu, Zhi Wu, Ligang Wang, Lei Zhang, Shanyuan Zhu, Shanyuan Zhu, Shanyuan Zhu

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Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity by Sameer Bahal, Maha E. Houssen, Ania Manson, Lorena Lorenzo, Mark A. Russell, Noel G. Morgan, Fariba Tahami, Sofia Grigoriadou

“…This is consistent with other reported mutations in STAT3 associated with HIES. However, surprisingly, the magnitude of inhibition was similar to another STAT3 mutation (V637M) which causes a much more severe form of the disease.…”
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Erratum to “The Role of KRAS Mutational Analysis to Determine the Site of Origin of Metastatic Carcinoma to the Lung: A Case Report” by Ahmad Alkhasawneh, Hui-Jia Dong, Chen Liu, Carmen Allegra, Robert W. Allan

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