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• W2118055797 abstract "Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization redundant 6qter deletions, DELTA Like 1 (DLL1), which is a ligand of NOTCH. We show that DLL1 is co-expressed in the developing chick forebrain with Fgf8. By treating chick embryos with a pharmacological inhibitor, we demonstrate that DLL1 interacts with FGF signaling pathway. Moreover, a mutation analysis of DLL1 in HPE patients revealed a three-nucleotide deletion. These various findings implicate DLL1 in early patterning of the forebrain and identify NOTCH as a new signaling pathway involved in HPE." @default.
• W2118055797 created "2016-06-24" @default.
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• W2118055797 date "2010-12-31" @default.
• W2118055797 modified "2023-10-11" @default.
• W2118055797 title "NOTCH, a new signaling pathway implicated in holoprosencephaly" @default.
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• W2118055797 doi "https://doi.org/10.1093/hmg/ddq556" @default.
• W2118055797 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3390777" @default.
• W2118055797 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21196490" @default.
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