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Article

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.

The Journal of clinical investigation - 1 Sept 2006

Kelberman Daniel, Rizzoti Karine, Avilion Ariel, Bitner-Glindzicz Maria, Cianfarani Stefano, Collins Julie, Chong W Kling, Kirk Jeremy M W, Achermann John C, Ross Richard, Carmignac Danielle, Lovell-Badge Robin, Robinson Iain C A F, Dattani Mehul T

Abstract excerpt

The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in SOX2 have previously been associated with bilateral anophthalmia/microphthalmia, developmental delay, short stature, and male genital tract abnormalities. Here we investigated the role of Sox2 in murine pituitary development. Mice...

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Abnormalities, Multiple
DNA-Binding Proteins
Eye Abnormalities
HMGB Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pituitary Gland

SOXB1 Transcription Factors

Trans-Activators

Source

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Identifiers

PMID: 16932809
DOI: 10.1172/JCI28658
PMCID: PMC1551933

Genes

SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.PMID 16932809Read ↗

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.Semantic proximity Read ↗

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.Semantic proximity Read ↗

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.Semantic proximity Read ↗

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.Semantic proximity Read ↗

<i>SOX2</i> mutation causes anophthalmia, hearing loss, and brain anomaliesSemantic proximity Read ↗

The role of SOX2 in hypogonadotropic hypogonadism.Semantic proximity Read ↗

Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2Semantic proximity Read ↗

SOX2 regulates the hypothalamic-pituitary axis at multiple levelsSemantic proximity Read ↗

Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.Semantic proximity Read ↗

A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.Semantic proximity Read ↗

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.Semantic proximity Read ↗

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research studySemantic proximity Read ↗

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