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Frameshift mutation

Fgf10-CRISPR mosaic mutants demonstrate the gene dose-related loss of the accessory lobe and decrease in the number of alveolar type 2 epithelial cells in mouse lung

Munenori Habuta, Akihiro Yasue, Ken-ichi T. Suzuki, Hirofumi Fujita, Keita Sato, Hitomi Kono, Ayuko Takayama, Tetsuya Bando, Satoru Miyaishi, Seiichi Oyadomari, Eiji Tanaka, Hideyo Ohuchi

published 15 Oct 2020

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Impact of TP53 mutations in acute myeloid leukemia patients treated with azacitidine

Pierre Bories, Naïs Prade, Stéphanie Lagarde, Bastien Cabarrou, Laetitia Largeaud, Julien Plenecassagnes, Isabelle Luquet, Véronique De Mas, Thomas Filleron, Manon Cassou, Audrey Sarry, Luc-Matthieu Fornecker, Célestine Simand, Sarah Bertoli, Christian Recher, Eric Delabesse

published 01 Oct 2020

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Association between tumor mutation profile and clinical outcomes among Hispanic Latina women with triple-negative breast cancer

Alexander Philipovskiy, Alok K. Dwivedi, Roberto Gamez, Richard McCallum, Debabrata Mukherjee, Zeina Nahleh, Renato J. Aguilera, Sumit Gaur

published 04 Sep 2020

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Whole genome sequencing analysis of high confidence variants of B-cell lymphoma in Canis familiaris

Alana Sparks, J. Paul Woods, Dorothee Bienzle, Geoffrey A. Wood, Brenda Lynn Coomber

published 28 Aug 2020

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Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents

Nidaa A. Ababneh, Dema Ali, Ban Al-Kurdi, Malik Sallam, Abdulla M. Alzibdeh, Bareqa Salah, Abdee T. Ryalat, Belal Azab, Basil Sharrack, Abdalla Awidi

published 04 Aug 2020

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Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn’s disease and active smoking status resulting in ileal stenosis requiring surgery

Fabian Schnitzler, Matthias Friedrich, Marianne Angelberger, Julia Diegelmann, Johannes Stallhofer, Christiane Wolf, Joel Dütschler, Samuel Truniger, Torsten Olszak, Florian Beigel, Cornelia Tillack, Peter Lohse, Stephan Brand

published 27 Jul 2020

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene

Lorenza Mittempergher, Anna M. Piskorz, Astrid J. Bosma, Magali Michaut, G. Bea A. Wisman, Roelof J. C. Kluin, Marja Nieuwland, Wim Brugman, Kevin J. W. van der Ven, Francesco Marass, James Morris, Nitzan Rosenfeld, Mercedes Jimenez-Linan, Steven de Jong, Ate G. J. van der Zee, James D. Brenton, René Bernards

published 08 Jul 2020

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Molecular subtypes in canine hemangiosarcoma reveal similarities with human angiosarcoma

Guannan Wang, Ming Wu, Amy C. Durham, Enrico Radaelli, Nicola J. Mason, XiaoWei Xu, David B. Roth

published 25 Mar 2020

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Analysis of gene variants in the GASH/Sal model of epilepsy

Elena Díaz-Casado, Ricardo Gómez-Nieto, José M. de Pereda, Luis J. Muñoz, María Jara-Acevedo, Dolores E. López

published 13 Mar 2020

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HLA class I restricted epitopes prediction of common tumor antigens in white and East Asian populations: Implication on antigen selection for cancer vaccine design

Wei Hu, Meifang He, Liangping Li

published 27 Feb 2020

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Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum

Hiroyoshi Nakanishi, Takeshi Sawada, Yasuharu Kaizaki, Ryosuke Ota, Hiromu Suzuki, Eiichiro Yamamoto, Hironori Aoki, Makoto Eizuka, Kenkei Hasatani, Naoki Takahashi, Satoko Inagaki, Masahide Ebi, Hiroyuki Kato, Eiji Kubota, Hiromi Kataoka, Satoru Takahashi, Takashi Tokino, Toshinari Minamoto, Tamotsu Sugai, Yasushi Sasaki

published 24 Feb 2020

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Two novel mutations in MSX1 causing oligodontia

Le Yang, Jia Liang, Haitang Yue, Zhuan Bian

published 08 Jan 2020

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Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells

Shigeharu G. Yabe, Junko Nishida, Satsuki Fukuda, Fujie Takeda, Kiyoko Nasiro, Kazuki Yasuda, Naoko Iwasaki, Hitoshi Okochi

published 30 May 2019

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