Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly
- 16 April 2008
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 82 (5) , 1165-1170
- https://doi.org/10.1016/j.ajhg.2008.03.001
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Dopaminergic deficiency in mice with reduced levels of the dual‐specificity tyrosine‐phosphorylated and regulated kinase 1A, Dyrk1A+/−Genes, Brain and Behavior, 2006
- Transgenic Mouse In Vivo Library of Human Down Syndrome Critical Region 1Journal of Neuropathology and Experimental Neurology, 2004
- Normal Development and Fertility of Knockout Mice Lacking the Tumor Suppressor Gene LRP1b Suggest Functional Compensation by LRP1Molecular and Cellular Biology, 2004
- Haploinsufficiency of Dyrk1A in Mice Leads to Specific Alterations in the Development and Regulation of Motor Activity.Behavioral Neuroscience, 2004
- Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunctionNeurobiology of Disease, 2003
- Alterations of Neocortical Pyramidal Cell Phenotype in the Ts65Dn Mouse Model of Down Syndrome: Effects of Environmental EnrichmentCerebral Cortex, 2003
- Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndromeHuman Molecular Genetics, 2001
- Development of the Superior Temporal Neocortex Is Anomalous in Trisomy 21Journal of Neuropathology and Experimental Neurology, 1994
- Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesisAmerican Journal of Medical Genetics, 1990
- A case of 21q-syndrome with normal SOD-1 activityHuman Genetics, 1979