Najm, Juliane and Horn, Denise and Wimplinger, Isabella and Golden, Jeffrey A. and Chizhikov, Victor V. and Sudi, Jyotsna and Christian, Susan L. and Ullmann, Reinhard and Kuechler, Alma and Haas, Carola A. and Flubacher, Armin and Charnas, Lawrence R. and Uyanik, Goekhan and Frank, Ulrich and Klopocki, Eva and Dobyns, William B. and Kutsche, Kerstin (2008) Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. NATURE GENETICS, 40 (9). pp. 1065-1067. ISSN 1061-4036,
Full text not available from this repository. (Request a copy)Abstract
CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SYNAPTIC FUNCTION; MOUSE; MUTANT; LETHAL; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Neurologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 26 Oct 2020 09:51 |
| Last Modified: | 26 Oct 2020 09:51 |
| URI: | https://pred.uni-regensburg.de/id/eprint/30408 |
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