ArticleDevelopmental cell2012
Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.
Article in Developmental cell, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 104 citations in OpenAlex.
- Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association.Cureus · 2026Article
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Human Pituitary Organoids: Transcriptional Landscape Deciphered by scRNA-Seq and Stereo-Seq, with Insights into SOX3's Role in Pituitary Development.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Relationship between Pituitary Gland and Stem Cell in the Aspect of Hormone Production and Disease Prevention: A Narrative Review.Endocrine, metabolic & immune disorders drug targets · 2025Review
- Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.Clinical and experimental dental research · 2024Article
- The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.Journal of anatomy · 2024Article
- Neural Progenitor Cells and the Hypothalamus.Cells · 2023Review
- Characterization of SHH, SOX3, WNT3A and WNT9B Proteins in Human Non-Syndromic Cleft Lip and Palate Tissue.Dentistry journal · 2023Article
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis.eLife · 2022Article
- Article
- Targeting myeloid derived suppressor cells reverts immune suppression and sensitizes BRAF-mutant papillary thyroid cancer to MAPK inhibitors.Nature communications · 2022Article
- GAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium.Development (Cambridge, England) · 2021Article
- The Role of Small Molecules and Their Effect on the Molecular Mechanisms of Early Retinal Organoid Development.International journal of molecular sciences · 2021Review
- Genesis of the Master Circadian Pacemaker in Mice.Frontiers in neuroscience · 2021Review
- A Highly ConservedFrontiers in cell and developmental biology · 2021Article
- Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.International journal of molecular sciences · 2020Article
- Article
- Bioinformatics Analysis Makes Revelation to Potential Properties on Regulation and Functions of Human Sox2.Pathology oncology research : POR · 2020Article
- Developmental Genes and Malformations in the Hypothalamus.Frontiers in neuroanatomy · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Septo-optic dysplasia (SOD) is a congenital brain anomaly that results in pituitary, optic nerve, and midline forebrain defects. The etiology of SOD is poorly understood, with the majority of cases being sporadic. In rare instances, SOD is caused by mutations in Sox2, Sox3, or Hesx1, but how this manifests in disease is not entirely certain. We demonstrate here that mouse embryos lacking Sonic hedgehog (Shh) in the prospective hypothalamus exhibit key features of SOD, including pituitary hypoplasia and absence of the optic disc. The hypothalamic source of Shh is required to maintain gene expression boundaries along the anteroposterior and mediolateral neural axes that are important for proper pituitary and eye development, respectively. We further reveal that Sox2 and Sox3 are dose-dependent regulators of Shh transcription that directly bind and activate a long-range Shh forebrain enhancer. These data indicate that reduced levels of Shh expression in the hypothalamus cause SOD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.