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Article

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Clinical endocrinology - 1 May 2015

Gregory L C, Gaston-Massuet C, Andoniadou C L, Carreno G, Webb E A, Kelberman D, McCabe M J, Panagiotakopoulos L, Saldanha J W, Spoudeas H A, Torpiano J, Rossi M, Raine J, Canham N, Martinez-Barbera J P, Dattani M T

Abstract excerpt

INTRODUCTION: The Gli family of zinc finger (GLI) transcription factors mediates the sonic hedgehog signalling pathway (HH) essential for CNS, early pituitary and ventral forebrain development in mice. Human mutations in this pathway have been described in patients with holoprosencephaly (HPE), i...

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Source

Identifiers

PMID: 25327282
DOI: 10.1111/cen.12637

Genes

GLI2
SHH
GAS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25327282-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.PMID 25327282Read ↗

Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.Semantic proximity Read ↗

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.Semantic proximity Read ↗

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

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The Molecular Basis of Congenital Hypopituitarism and Related Disorders.Semantic proximity Read ↗

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.Semantic proximity Read ↗

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without HoloprosencephalySemantic proximity Read ↗

Role of GLI2 in hypopituitarism phenotype.Semantic proximity Read ↗

Relatively high frequency of non‐synonymous GLI 2 variants in patients with congenital hypopituitarism without holoprosencephalySemantic proximity Read ↗

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.Semantic proximity Read ↗

Sonic hedgehog signalling pathway in CNS tumours: its role and therapeutic implicationsSemantic proximity Read ↗

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