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Nonsense mutation

Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy

Rachele Rossi, Mingyan Fang, Lin Zhu, Chongyi Jiang, Cong Yu, Cristina Flesia, Chao Nie, Wenyan Li, Alessandra Ferlini

published 31 Mar 2022

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Multiplexed CRISPR-mediated engineering of protein secretory pathway genes in the thermotolerant methylotrophic yeast Ogataea thermomethanolica

Worarat Kruasuwan, Aekkachai Puseenam, Sutipa Tanapongpipat, Niran Roongsawang

published 23 Dec 2021

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Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM)

Julia González-Rincón, José A. Garcia-Vela, Sagrario Gómez, Belén Fernández-Cuevas, Sara Nova-Gurumeta, Nuria Pérez-Sanz, Miguel Alcoceba, Marcos González, Eduardo Anguita, Javier López-Jiménez, Eva González-Barca, Lucrecia Yáñez, Ernesto Pérez-Persona, Javier de la Serna, Miguel Fernández-Zarzoso, Guillermo Deben, Francisco J. Peñalver, María C. Fernández, Jaime Pérez de Oteyza, M. Ángeles Andreu, M. Ángeles Ruíz-Guinaldo, Raquel Paz-Arias, M. Dolores García-Malo, Valle Recasens, Rosa Collado, Raúl Córdoba, Belén Navarro-Matilla, Margarita Sánchez-Beato, José A. García-Marco

published 10 Sep 2021

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Extreme value theory as a framework for understanding mutation frequency distribution in cancer genomes

Natsuki Tokutomi, Kenta Nakai, Sumio Sugano

published 23 Aug 2021

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Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia

Xinchao Bian, Guangying Cheng, Xinbo Sun, Hongkun Liu, Xiangmao Zhang, Yu Han, Bo Li, Ning Li

published 30 Jun 2021

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Genomic analysis for the prediction of prognosis in small-bowel cancer

Akiyoshi Tsuboi, Yuji Urabe, Shiro Oka, Akihiko Sumioka, Sumio Iio, Ryo Yuge, Ryohei Hayashi, Toshio Kuwai, Yasuhiko Kitadai, Kazuya Kuraoka, Koji Arihiro, Shinji Tanaka, Kazuaki Chayama

published 20 May 2021

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Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes

Adrián Mosquera Orgueira, Roi Ferreiro Ferro, José Ángel Díaz Arias, Carlos Aliste Santos, Beatriz Antelo Rodríguez, Laura Bao Pérez, Natalia Alonso Vence, Ággeles Bendaña López, Aitor Abuin Blanco, Paula Melero Valentín, And´res Peleteiro Raindo, Miguel Cid López, Manuel Mateo Pérez Encinas, Marta Sonia González Pérez, Máximo Francisco Fraga Rodríguez, José Luis Bello López

published 04 May 2021

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Improved transformation efficiency of group A Streptococcus by inactivation of a type I restriction modification system

Meredith B. Finn, Kathryn M. Ramsey, Hunter J. Tolliver, Simon L. Dove, Michael R. Wessels

published 29 Apr 2021

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Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer

Evelyn M. Mrozek, Vineeta Bajaj, Yanan Guo, Izabela A. Malinowska, Jianming Zhang, David J. Kwiatkowski

published 23 Apr 2021

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Genetic interactions among ADAMTS metalloproteases and basement membrane molecules in cell migration in Caenorhabditis elegans

Ayaka Imanishi, Yuma Aoki, Masaki Kakehi, Shunsuke Mori, Tomomi Takano, Yukihiko Kubota, Hon-Song Kim, Yukimasa Shibata, Kiyoji Nishiwaki

published 02 Dec 2020

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Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population

Fadi S. Saadeh, Rami Z. Morsi, Abdallah El-Kurdi, Georges Nemer, Rami Mahfouz, Maya Charafeddine, Jessica Khoury, Marwan W. Najjar, Pierre Khoueiry, Hazem I. Assi

published 25 Nov 2020

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Lymphoplasmacytic lymphoma associated with diffuse large B-cell lymphoma: Progression or divergent evolution?

Macarena Boiza-Sánchez, Rebeca Manso, Olga Balagué, Cristina Chamizo, Elham Askari, Rocío Nieves Salgado, Carlos Blas-López, Elena Aguirregoicoa-García, Javier Menárguez, Carlos Santonja, Magdalena Adrados, Miguel Ángel Limeres-González, Miguel Ángel Piris, Socorro María Rodríguez-Pinilla

published 12 Nov 2020

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Hsp104-dependent ability to assimilate mannitol and sorbitol conferred by a truncated Cyc8 with a C-terminal polyglutamine in Saccharomyces cerevisiae

Hideki Tanaka, Kousaku Murata, Wataru Hashimoto, Shigeyuki Kawai

published 11 Nov 2020

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