Literature DB >> 29304375

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin, Alexander P A Stegmann, Erica H Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah-Politi, Tim M Strom, Jill A Rosenfeld, Yaping Yang, Jennifer E Posey, LaDonna Immken, Nelly Oundjian, Katherine L Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda H Schieving, Ana Claasen, Matthew Huentelman, Vinodh Narayanan, Keri Ramsey, Han G Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R Lupski, Hans-Jürgen Kreienkamp.   

Abstract

Entities:  

Year:  2018        PMID: 29304375      PMCID: PMC5777981          DOI: 10.1016/j.ajhg.2017.12.016

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.043


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1.  Seneca Valley Virus Induces DHX30 Cleavage to Antagonize Its Antiviral Effects.

Authors:  Wei Wen; Zixuan Zheng; Haoyuan Wang; Qiongqiong Zhao; Mengge Yin; Huanchun Chen; Xiangmin Li; Ping Qian
Journal:  J Virol       Date:  2022-08-24       Impact factor: 6.549

  1 in total

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