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Article

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

The Journal of biological chemistry - 8 Oct 2004

Traiffort Elisabeth, Dubourg Christèle, Faure Hélène, Rognan Didier, Odent Sylvie, Durou Marie-Renée, David Véronique, Ruat Martial

Abstract excerpt

Mutations of the developmental gene Sonic hedgehog (SHH) and alterations of SHH signaling have been associated with holoprosencephaly (HPE), a rare disorder characterized by a large spectrum of brain and craniofacial anomalies. Based on the crystal structure of mouse N-terminal and Drosophila C-terminal hedgehog proteins, we have developed three-dimensional models of the corresponding human proteins (SHH-N,...

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PMID: 15292211
DOI: 10.1074/jbc.M405161200

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SHH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.PMID 15292211Read ↗

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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Semantic proximity Read ↗

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.Semantic proximity Read ↗

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

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