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Deletion mutation

Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar, Kalpana Athimoolam, Manikandan Suraj, Mary Shoba Das Christu Das, Aparna Muralidharan, Divya Jeyam, Jaicy Ashokan, Priya Karthikeyan, Ragav Krishna, Arati Khanna-Gupta, Lakshmi Bremadesam Raman

published 19 Jun 2020

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression

Richa Singh, Shreya Das, Sila Datta, Anjana Mazumdar, Nidhan K. Biswas, Arindam Maitra, Partha P. Majumder, Sandip Ghose, Bidyut Roy

published 03 Jun 2020

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The degradation-promoting roles of deubiquitinases Ubp6 and Ubp3 in cytosolic and ER protein quality control

Hongyi Wu, Davis T. W. Ng, Ian Cheong, Paul Matsudaira

published 13 May 2020

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Evolutionary innovation using EDGE, a system for localized elevated mutagenesis

Xiao Yi, Romas Kazlauskas, Michael Travisano

published 30 Apr 2020

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Deletion of MHY1 abolishes hyphae formation in Yarrowia lipolytica without negative effects on stress tolerance

Oliver Konzock, Joakim Norbeck

published 03 Apr 2020

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Novel EGFR ectodomain mutations associated with ligand-independent activation and cetuximab resistance in head and neck cancer

Sindhu Nair, Hoa Q. Trummell, Rajani Rajbhandari, Nanda K. Thudi, Susan E. Nozell, Jason M. Warram, Christopher D. Willey, Eddy S. Yang, William J. Placzek, James A. Bonner, Markus Bredel

published 18 Feb 2020

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Clinical significance of EGFR mutation types in lung adenocarcinoma: A multi-centre Korean study

Hee-Young Yoon, Jeong-Seon Ryu, Yun Su Sim, Dojin Kim, Sung Yong Lee, Juwhan Choi, Sojung Park, Yon Ju Ryu, Jin Hwa Lee, Jung Hyun Chang

published 13 Feb 2020

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Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing

You Jin Chun, Jae Woo Choi, Min Hee Hong, Dongmin Jung, Hyeonju Son, Eun Kyung Cho, Young Joo Min, Sang-We Kim, Keunchil Park, Sung Sook Lee, Sangwoo Kim, Hye Ryun Kim, Byoung Chul Cho, Korean Lung Cancer Consortium (KLCC)

published 25 Nov 2019

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Generation of deletions and precise point mutations in Dictyostelium discoideum using the CRISPR nickase

Hoshie Iriki, Takefumi Kawata, Tetsuya Muramoto

published 17 Oct 2019

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Blast vacuolization in AML patients indicates adverse-risk AML and is associated with impaired survival after intensive induction chemotherapy

Olivier Ballo, Jan Stratmann, Hubert Serve, Björn Steffen, Fabian Finkelmeier, Christian Brandts

published 30 Sep 2019

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Structural characterization of EGFR exon 19 deletion mutation using molecular dynamics simulation

Mahlet Z. Tamirat, Marika Koivu, Klaus Elenius, Mark S. Johnson

published 19 Sep 2019

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MET exon 14 skipping mutations and gene amplification in a Taiwanese lung cancer population

Jrhau Lung, Ming-Szu Hung, Yu-Ching Lin, Kam-Fai Lee, Yuan Yuan Jiang, Shao-Lan Huang, Yu-Hung Fang, Ming-Shian Lu, Chin-Kuo Lin, Tsung-Ming Yang, Paul Yann Lin, Meng-Jer Hsieh, Ying Huang Tsai

published 01 Aug 2019

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Constitutive STAT5 phosphorylation in CD34⁺ cells of patients with primary myelofibrosis: Correlation with driver mutation status and disease severity

Carlotta Abbà, Rita Campanelli, Paolo Catarsi, Laura Villani, Vittorio Abbonante, Melania Antonietta Sesta, Giovanni Barosi, Vittorio Rosti, Margherita Massa

published 01 Aug 2019

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