ArticleAmerican journal of human genetics2011
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 105 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- The role of Pth1r in posterior cranium cartilage regulation and craniosynostosis.Nature communications · 2026Article
- Article
- Identification of a Novel HomozygousBalkan journal of medical genetics : BJMG · 2025Article
- Differential regulation of coronal and lambdoid suture patency by PTHLH and HHIP activity in mice.Development (Cambridge, England) · 2025Article
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family.Molecular genetics & genomic medicine · 2025Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.Nature communications · 2024Article
- Article
- A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.medRxiv : the preprint server for health sciences · 2023Article
- Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.Nature communications · 2023Article
- Article
- Three-dimensional genome structure and function.MedComm · 2023Review
- Review
- Single-cell analysis identifies a key role for Hhip in murine coronal suture development.Nature communications · 2021Article
- Application of full-genome analysis to diagnose rare monogenic disorders.NPJ genomic medicine · 2021Article
- Cell death in the developing vertebrate limb: A locally regulated mechanism contributing to musculoskeletal tissue morphogenesis and differentiation.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- The Pleiotropic Intricacies of Hedgehog Signaling: From Craniofacial Patterning to Carcinogenesis.FACE (Thousand Oaks, Calif.) · 2021Article
- Review
- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 11 institutions in 4 countries.
Funding
Abstract
Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter gene expression in a pattern highly similar to wild-type Ihh expression. We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development.
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.