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Article

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

Nature genetics - 1 Jun 2000

Gripp K W, Wotton D, Edwards M C, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai E H, Massagué J, Muenke M, Elledge S J

Abstract excerpt

Holoprosencephaly (HPE) is the most common structural defect of the developing forebrain in humans (1 in 250 conceptuses, 1 in 16,000 live-born infants). HPE is aetiologically heterogeneous, with both environmental and genetic causes. So far, three human HPE genes are known: SHH at chromosome region 7q36 (ref. 6); ZIC2 at 13q32 (ref. 7); and SIX3 at 2p21 (ref. 8). In animal models, genes in the Nodal signalling...

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Source

Identifiers

PMID: 10835638
DOI: 10.1038/76074

Genes

NODAL
SHH
SIX3
SMAD2
ZIC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.PMID 10835638Read ↗

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Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.Semantic proximity Read ↗

Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning.Semantic proximity Read ↗

The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF.Semantic proximity Read ↗

Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.Semantic proximity Read ↗

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

Intragenic deletion of Tgif causes defectsin brain development.Semantic proximity Read ↗

Link between the causative genes of holoprosencephaly: Zic2 directly regulates Tgif1 expression.Semantic proximity Read ↗

Mutations in holoprosencephaly.Semantic proximity Read ↗

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.Semantic proximity Read ↗

Embryonic fibroblasts from mice lacking Tgif were defective in cell cycling.Semantic proximity Read ↗

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.Semantic proximity Read ↗

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