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Deletion mutation

Importance of diphthamide modified EF2 for translational accuracy and competitive cell growth in yeast

Harmen Hawer, Koray Ütkür, Meike Arend, Klaus Mayer, Lorenz Adrian, Ulrich Brinkmann, Raffael Schaffrath

published 18 Oct 2018

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Identification of the novel deletion-type PML-RARA mutation associated with the retinoic acid resistance in acute promyelocytic leukemia

Hikaru Hattori, Yuichi Ishikawa, Naomi Kawashima, Akimi Akashi, Yohei Yamaguchi, Yasuhiko Harada, Daiki Hirano, Yoshiya Adachi, Kotaro Miyao, Yoko Ushijima, Seitaro Terakura, Tetsuya Nishida, Tadashi Matsushita, Hitoshi Kiyoi

published 05 Oct 2018

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Heavy metal sensitivities of gene deletion strains for ITT1 and RPS1A connect their activities to the expression of URE2, a key gene involved in metal detoxification in yeast

Houman Moteshareie, Maryam Hajikarimlou, Alex Mulet Indrayanti, Daniel Burnside, Ana Paula Dias, Clara Lettl, Duale Ahmed, Katayoun Omidi, Tom Kazmirchuk, Nathalie Puchacz, Narges Zare, Sarah Takallou, Thet Naing, Raúl Bonne Hernández, William G. Willmore, Mohan Babu, Bruce McKay, Bahram Samanfar, Martin Holcik, Ashkan Golshani

published 19 Sep 2018

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A novel method of using Deep Belief Networks and genetic perturbation data to search for yeast signaling pathways

Songjian Lu, Xiaonan Fan, Lujia Chen, Xinghua Lu

published 12 Sep 2018

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Assessing the performance of only HRP2 and HRP2 with pLDH based rapid diagnostic tests for the diagnosis of malaria in middle Ghana, Africa

Dennis Adu-Gyasi, Kwaku Poku Asante, Sabastina Amoako, Nicholas Amoako, Love Ankrah, David Dosoo, Samuel Kofi Tchum, George Adjei, Oscar Agyei, Seeba Amenga-Etego, Seth Owusu-Agyei

published 07 Sep 2018

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Rare gene deletions in genetic generalized and Rolandic epilepsies

Kamel Jabbari, Dheeraj R. Bobbili, Dennis Lal, Eva M. Reinthaler, Julian Schubert, Stefan Wolking, Vishal Sinha, Susanne Motameny, Holger Thiele, Amit Kawalia, Janine Altmüller, Mohammad Reza Toliat, Robert Kraaij, Jeroen van Rooij, André G. Uitterlinden, M. Arfan Ikram, EuroEPINOMICS CoGIE Consortium , Federico Zara, Anna-Elina Lehesjoki, Roland Krause, Fritz Zimprich, Thomas Sander, Bernd A. Neubauer, Patrick May, Holger Lerche, Peter Nürnberg

published 27 Aug 2018

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Identification of induced mutations in hexaploid wheat genome using exome capture assay

Momina Hussain, Muhammad Atif Iqbal, Bradley J. Till, Mehboob-ur- Rahman

published 13 Aug 2018

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PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations

Hannah Blesinger, Silke Kaulfuß, Thiha Aung, Sonja Schwoch, Lukas Prantl, Jochen Rößler, Jörg Wilting, Jürgen Becker

published 09 Jul 2018

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Modulating D-amino acid oxidase (DAAO) substrate specificity through facilitated solvent access

Kalyanasundaram Subramanian, Artur Góra, Ruud Spruijt, Karolina Mitusińska, Maria Suarez-Diez, Vitor Martins dos Santos, Peter J. Schaap

published 15 Jun 2018

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Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, Haya Al-balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki

published 30 May 2018

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Decreased DNA methylation of a CpG site in the HBAP1 gene in plasma DNA from pregnant women

Tanapat Pangeson, Torpong Sanguansermsri, Khwanruedee Mahingsa, Phanchana Sanguansermsri

published 24 May 2018

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Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts

Joshua Lee, Yusuke Echigoya, William Duddy, Takashi Saito, Yoshitsugu Aoki, Shin’ichi Takeda, Toshifumi Yokota

published 17 May 2018

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Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin

Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino

published 24 Apr 2018

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