Hum Genet. 2002 May;110(5):422-8. Epub 2002 Apr 10.

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

de la Cruz JM, Bamford RN, Burdine RD, Roessler E, Barkovich AJ, Donnai D, Schier AF, Muenke M.

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Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10 Room 10C103, Bethesda, MD 20892-1852, USA.

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.

PMID:: 12073012; [PubMed - indexed for MEDLINE]

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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human ...
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
Hum Genet. 2002 May ;110(5):422-8. Epub 2002 Apr 10 .

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