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Insertion mutation

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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Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, Xiaoge Zhou, Qing Liu, Gang Chen, Hualiang Xiao, Weihua Yin, Shigeo Nakamura, Huilan Rao

published 14 Aug 2018

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Characterization of Drosophila ATPsynC mutants as a new model of mitochondrial ATP synthase disorders

Domenica Lovero, Luca Giordano, René Massimiliano Marsano, Alvaro Sanchez-Martinez, Hadi Boukhatmi, Maik Drechsler, Marta Oliva, Alexander J. Whitworth, Damiano Porcelli, Corrado Caggese

published 10 Aug 2018

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Characterization of intra- and inter-host norovirus P2 genetic variability in linked individuals by amplicon sequencing

Aurora Sabrià, Rosa M. Pintó, Albert Bosch, Josep Quer, Damir Garcia-Cehic, Josep Gregori, Angela Dominguez, Mónica Carol, Maria-Rosa Sala-Farré, Susana Guix, the Working Group for the Study of Outbreaks of Acute Gastroenteritis in Catalonia

published 09 Aug 2018

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Utilizing host endogenous microRNAs to negatively regulate the replication of porcine reproductive and respiratory syndrome virus in MARC-145 cells

Liwei Li, Fei Gao, Hao Zheng, Yifeng Jiang, Wu Tong, Yanjun Zhou, Guangzhi Tong

published 03 Jul 2018

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