Arama Sonuçları - "somatic mutation"

Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) Yazar: Hee-Jeong Kang, Dong-Seok Kim, Se Hoon Kim, Jeong Ho Lee, Ara Ko, Se Hee Kim, Joon Soo Lee, Heung Dong Kim, Hoon-Chul Kang

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Cutaneous T-cell lymphomas with pathogenic somatic mutations and absence of detectable clonal T-cell receptor gene rearrangement: two case reports Yazar: Rebecca Rojansky, Sebastian Fernandez-Pol, Erica Wang, Kerri E. Rieger, Roberto A. Novoa, James L. Zehnder, Christian A. Kunder, Youn H. Kim, Michael S. Khodadoust, Ryanne A. Brown

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Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes Yazar: Andrea Castro, Kivilcim Ozturk, Rachel Marty Pyke, Su Xian, Maurizio Zanetti, Hannah Carter

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Malignant STK11 adnexal tumor harboring a somatic mutation in a woman previously diagnosed with mesothelioma, a case report Yazar: Christina R. Rutherford, Taylor A. Rives, Dava W. Piecoro, Charles S. Dietrich

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Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification Yazar: Thamer Abdulhamid Aljuhani, Thamer Abdulhamid Aljuhani, Noor Ahmad Shaik, Noor Ahmad Shaik, Rahaf Talal Alqawas, Rana Y. Bokhary, Mahmood Al-Mutadares, Hadiah Bassam Al Mahdi, Nuha Al-Rayes, Ashraf AbdulRahman El-Harouni, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli, Zuhier Ahmad Awan

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Somatic mutations in four novel genes contribute to homologous recombination deficiency in breast cancer: a real‐world clinical tumor sequencing study Yazar: Yongsheng Huang, Yuntan Qiu, Linxiaoxiao Ding, Shuwei Ren, Yuanling Jiang, Jiahuan Luo, Jinghua Huang, Xinke Yin, Sha Fu, Jianli Zhao, Kaishun Hu, Jianwei Liao

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A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report Yazar: Jiantao Cui, Xiuying Chen, Qian Zhai, Na Chen, Xiaodan Li, Yuli Zhang, Hui Wang, Xin Bian, Na Gao, Deyi Chen, Zhihong Chen, Shibiao Zhang, Yan Chen

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Binding of CLL Subset 4 B Cell Receptor Immunoglobulins to Viable Human Memory B Lymphocytes Requires a Distinctive IGKV Somatic Mutation Yazar: Rosa Catera, Yun Liu, Chao Gao, Xiao-Jie Yan, Amanda Magli, Steven L. Allen, Jonathan E. Kolitz, Kanti R. Rai, Charles C. Chu, Ten Feizi, Kostas Stamatopoulos, Nicholas Chiorazzi

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Prognostic signature of endoplasmic reticulum stress-related long noncoding RNAs in head and neck squamous cell carcinoma: Association with somatic mutation and tumor immune microenvironment Yazar: Tao Qu, Cheng Miao, Zijian Zhang, Honglin Li, Liu Liu, Weimin Lin, Chunjie Li, Jian Pan, Li Ye, Yubin Cao

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A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients Yazar: Gourab Saha, Richa Singh, Argha Mandal, Subrata Das, Esita Chattopadhyay, Prasun Panja, Paromita Roy, Navonil DeSarkar, Sumit Gulati, Supriyo Ghatak, Shibajyoti Ghosh, Sudeep Banerjee, Bidyut Roy, Saurabh Ghosh, Dipankar Chaudhuri, Neeraj Arora, Nidhan K. Biswas, Nilabja Sikdar

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Clonal Selection of a Novel Deleterious TP53 Somatic Mutation Discovered in ctDNA of a KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumor Resistant to Imatinib Yazar: Chiara Dalle Fratte, Michela Guardascione, Elena De Mattia, Eugenio Borsatti, Roberta Boschetto, Angelo Farruggio, Vincenzo Canzonieri, Vincenzo Canzonieri, Loredana Romanato, Rachele Borsatti, Sara Gagno, Elena Marangon, Maurizio Polano, Angela Buonadonna, Giuseppe Toffoli, Erika Cecchin

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CTNNB1 p.D32A (c.95A > C) somatic mutation in stage I grade 1 endometrioid endometrial carcinoma with lung metastasis: a case report Yazar: Lan Zhong, Wei Jiang, RutieYin, Hui Liu, Liang Song

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A case of Turcot's syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report Yazar: Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota, Daiki Taniyama, Kazuya Kuraoka, Hirotaka Tashiro

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Genetic Complexity of Hormone Sensitive Cancers

Konular: “…somatic mutations…”
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Novel Biomarkers of Gastrointestinal Cancer

Konular: “…somatic mutations…”
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New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas

Konular: “…KCNJ5 somatic mutation…”
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Diagnostic, Prognostic and Predictive Biological Markers in Bladder Cancer - Illumination of a Vision 2.0

Konular: “…somatic mutations…”
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Mechanisms and Novel Therapeutic Approaches for Gynecologic Cancer

Konular: “…somatic mutation…”
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Hereditary Hemorrhagic Telangiectasia Recent Advances and Future Challenges

Konular: “…somatic mutation…”
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Transcriptional Regulation: Molecules, Involved Mechanisms and Misregulation Yazar: Ciccodicola, Alfredo

Konular: “…somatic mutations…”
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