Título:
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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
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Autores:
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Cruz García, Jesús Manuel de la ;
Bamford, Richard N. ;
Burdine, Rebecca D. ;
Roessler, Erich ;
Barkovich, A. James ;
Donnai, Dian ;
Schier, Alexander F. ;
Muenke, Maximiliam
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Tipo de documento:
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texto impreso
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Editorial:
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Springer-Verlag, 2002-05
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Dimensiones:
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application/pdf
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Nota general:
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info:eu-repo/semantics/openAccess
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Idiomas:
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Palabras clave:
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Estado = Publicado
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Materia = Ciencias: Informática
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Tipo = Artículo
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Resumen:
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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 midtine 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.
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En línea:
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https://eprints.ucm.es/id/eprint/26302/1/cruzgarcia49.pdf
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