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Keywords: Autism
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Journal Articles

The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos

Helen Rankin Willsey, Yuxiao Xu, Amanda Everitt, Jeanselle Dea, Cameron R. T. Exner, A. Jeremy Willsey, Matthew W. State, Richard M. Harland
Journal: Development
Development (2020) 147 (21): dev189290.
DOI: https://doi.org/10.1242/dev.189290
Published: 22 June 2020
...Helen Rankin Willsey; Yuxiao Xu; Amanda Everitt; Jeanselle Dea; Cameron R. T. Exner; A. Jeremy Willsey; Matthew W. State; Richard M. Harland; Sally Dunwoodie; John Wallingford ABSTRACT DYRK1A [dual specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A] is a high-confidence autism risk gene...
View article titled, The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos
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Includes: Supplementary data
Journal Articles

An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain

Luc Poitras, Man Yu, Cindy Lesage-Pelletier, Ryan B. MacDonald, Jean-Philippe Gagné, Gary Hatch, Isabelle Kelly, Steven P. Hamilton, John L. R. Rubenstein, Guy G. Poirier, Marc Ekker
Journal: Development
Development (2010) 137 (18): 3089–3097.
DOI: https://doi.org/10.1242/dev.051052
Published: 15 September 2010
... and autism. Here, we report in mice that a single-nucleotide polymorphism (SNP) found in an autistic proband falls within a functional protein binding site in an ultraconserved cis-regulatory element. This element, I56i, is involved in regulating Dlx5/Dlx6 homeobox gene expression in the developing forebrain...
View article titled, An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain
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Includes: Supplementary data
Journal Articles

Drosophila fragile X mental retardation protein developmentally regulates activity-dependent axon pruning

Charles R. Tessier, Kendal Broadie
Journal: Development
Development (2008) 135 (8): 1547–1557.
DOI: https://doi.org/10.1242/dev.015867
Published: 15 April 2008
...Charles R. Tessier; Kendal Broadie Fragile X Syndrome (FraX) is a broad-spectrum neurological disorder with symptoms ranging from hyperexcitability to mental retardation and autism. Loss of the fragile X mental retardation 1 ( fmr1 ) gene product,the mRNA-binding translational regulator FMRP...
View article titled, Drosophila fragile X mental retardation protein developmentally regulates activity-dependent axon pruning
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