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Article

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.

The Journal of clinical investigation - 1 Jun 2007

Seppala Maisa, Depew Michael J, Martinelli David C, Fan Chen-Ming, Sharpe Paul T, Cobourne Martyn T

Abstract excerpt

Holoprosencephaly (HPE) is a clinically heterogeneous developmental anomaly affecting the CNS and face, in which the embryonic forebrain fails to divide into distinct halves. Numerous genetic loci and environmental factors are implicated in HPE, but mutation in the sonic hedgehog (Shh) gene is an established cause in both humans and mice. As growth arrest-specific 1 (Gas1) encodes a membrane glycoprotein...

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Identifiers

PMID: 17525797
DOI: 10.1172/JCI32032
PMCID: PMC1868789

Genes

GAS1

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.PMID 17525797Read ↗

GAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium.Semantic proximity Read ↗

Holoprosencephaly: a paradigm for the complex genetics of brain development.Semantic proximity Read ↗

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.Semantic proximity Read ↗

Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Semantic proximity Read ↗

Genetic approaches to understanding brain development: Holoprosencephaly as a modelSemantic proximity Read ↗

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.Semantic proximity Read ↗

Genetic interactions between the hedgehog co-receptors Gas1 and Boc regulate cell proliferation during murine palatogenesis.Semantic proximity Read ↗

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.Semantic proximity Read ↗

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.Semantic proximity Read ↗

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.Semantic proximity Read ↗

Modeling the complex etiology of holoprosencephaly in mice.Semantic proximity Read ↗

Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.Semantic proximity Read ↗

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