Ontology highlight
ABSTRACT:
SUBMITTER: Tarkar A
PROVIDER: S-EPMC4000444 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Tarkar Aarti A Loges Niki T NT Slagle Christopher E CE Francis Richard R Dougherty Gerard W GW Tamayo Joel V JV Shook Brett B Cantino Marie M Schwartz Daniel D Jahnke Charlotte C Olbrich Heike H Werner Claudius C Raidt Johanna J Pennekamp Petra P Abouhamed Marouan M Hjeij Rim R Köhler Gabriele G Griese Matthias M Li You Y Lemke Kristi K Klena Nikolas N Liu Xiaoqin X Gabriel George G Tobita Kimimasa K Jaspers Martine M Morgan Lucy C LC Shapiro Adam J AJ Letteboer Stef J F SJ Mans Dorus A DA Carson Johnny L JL Leigh Margaret W MW Wolf Whitney E WE Chen Serafine S Lucas Jane S JS Onoufriadis Alexandros A Plagnol Vincent V Schmidts Miriam M Boldt Karsten K Roepman Ronald R Zariwala Maimoona A MA Lo Cecilia W CW Mitchison Hannah M HM Knowles Michael R MR Burdine Rebecca D RD Loturco Joseph J JJ Omran Heymut H
Nature genetics 20130721 9
DYX1C1 has been associated with dyslexia and neuronal migration in the developing neocortex. Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility. This phenotype was confirmed independently in mice with a Dyx1c1 c.T2A start-codon mutation recovered from an N-ethyl-N-nitrosourea (ENU) mutagenesis screen. Morpholinos targeting dyx1c ...[more]