de la Cruz, June M. and Bamford, Richard N. and Burdine, Rebecca D. and Roessler, Erich and Barkovich, James A. and Donnai, Dian and Schier, Alexander F. and Muenke, Maximilian. (2002) A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Human genetics, 110 (5). pp. 422-428.
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Official URL: https://edoc.unibas.ch/74890/
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Abstract
TDGF1 (CRIPTO) is an EGF-CFC family member and an obligate co-receptor involved in NODAL signaling, a developmental program implicated in midline, forebrain, and left-right axis development in model organisms. Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans. Here we identify a mutation in the conserved CFC domain of TDGF1 in a patient with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.
| Faculties and Departments: | 05 Faculty of Science > Departement Biozentrum > Growth & Development > Cell and Developmental Biology (Schier) |
|---|---|
| UniBasel Contributors: | Schier, Alexander F |
| Item Type: | Article, refereed |
| Article Subtype: | Research Article |
| Publisher: | Springer |
| ISSN: | 0340-6717 |
| e-ISSN: | 1432-1203 |
| Note: | Publication type according to Uni Basel Research Database: Journal article |
| Identification Number: |
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| Last Modified: | 06 Nov 2020 12:38 |
| Deposited On: | 06 Nov 2020 12:38 |
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