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Insertion mutation

Deletion of the major Escherichia coli multidrug transporter AcrB reveals transporter plasticity and redundancy in bacterial cells

Noémie Alon Cudkowicz, Shimon Schuldiner

published 28 Jun 2019

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Capacity for survival in global warming: Adaptation of mesophiles to the temperature upper limit

Tomoyuki Kosaka, Yasuyuki Nakajima, Ayana Ishii, Maiko Yamashita, Saki Yoshida, Masayuki Murata, Kunpei Kato, Yuki Shiromaru, Shun Kato, Yu Kanasaki, Hirofumi Yoshikawa, Minenosuke Matsutani, Pornthap Thanonkeo, Mamoru Yamada

published 07 May 2019

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Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Nivedita Singh, Pradeep Kallollimath, Mohd Hussain Shah, Saketh Kapoor, Vishwanath Kumble Bhat, Lakshminarayanapuram Gopal Viswanathan, Madhu Nagappa, Parayil S. Bindu, Arun B. Taly, Sanjib Sinha, Arun Kumar

published 06 May 2019

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Mutation of key lysine residues in the Insert B region of the yeast dynamin Vps1 disrupts lipid binding and causes defects in endocytosis

Iwona I. Smaczynska-de Rooij, Christopher J. Marklew, Sarah E. Palmer, Ellen G. Allwood, Kathryn R. Ayscough

published 22 Apr 2019

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Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease

Xiaopei Zhou, Weimin Jia, Zhengyi Ni, Ali Wang, Zhenxing Liu, Meiqi Hou, Mi Zhou, Zhongwen Tang, Dazhi Zhang, Lei Li, Tiantian Han, Yang Tan, Geng Luo, Jiarui Wang, Yanling Wu, Xianqin Zhang

published 18 Apr 2019

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Concentration of mitochondrial DNA mutations by cytoplasmic transfer from platelets to cultured mouse cells

Kaori Ishikawa, Kohei Kobayashi, Akihito Yamada, Moe Umehara, Toshihiko Oka, Kazuto Nakada

published 04 Mar 2019

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Comparative analysis of mutational robustness of the intrinsically disordered viral protein VPg and of its interactor eIF4E

Jocelyne Walter, Justine Charon, Yihua Hu, Joy Lachat, Thomas Leger, Guillaume Lafforgue, Amandine Barra, Thierry Michon

published 14 Feb 2019

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Agnostic detection of genomic alterations by holistic DNA structural interrogation

Ryan K. Shultzaberger, Rachel E. Abrams, Challise J. Sullivan, Anthony D. Schmitt, Thomas W. J. Thompson, John Dresios

published 29 Nov 2018

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Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients

Natália Candido Caçador, Carolina Paulino da Costa Capizzani, Lídia Alice Gomes Monteiro Marin Torres, Renata Galetti, Oana Ciofu, Ana Lúcia da Costa Darini, Niels Høiby

published 29 Nov 2018

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The zebrafish orthologue of familial Alzheimer’s disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation

Haowei Jiang, Morgan Newman, Michael Lardelli

published 25 Oct 2018

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Functional abnormalities in induced Pluripotent Stem Cell-derived cardiomyocytes generated from titin-mutated patients with dilated cardiomyopathy

Revital Schick, Lucy N. Mekies, Yuval Shemer, Binyamin Eisen, Tova Hallas, Ronen Ben Jehuda, Meital Ben-Ari, Agnes Szantai, Lubna Willi, Rita Shulman, Michael Gramlich, Luna Simona Pane, Ilaria My, Dov Freimark, Marta Murgia, Gianluca Santamaria, Mihaela Gherghiceanu, Michael Arad, Alessandra Moretti, Ofer Binah

published 17 Oct 2018

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Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, Elijah J. Lohman, Bedia A. Barkoh, Rashmi Kanagal-Shamanna, Carlos E. Bueso-Ramos, Rajesh R. Singh, L. Jeffrey Medeiros, Raja Luthra, Keyur P. Patel

published 17 Sep 2018

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Substantial improvement of toyocamycin production in Streptomyces diastatochromogenes by cumulative drug-resistance mutations

Xu-Ping Shentu, Zhen-Yan Cao, Yin Xiao, Gu Tang, Kozo Ochi, Xiao-Ping Yu

published 30 Aug 2018

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