ArticleNature genetics2012
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Novel Genetic Determinants of Dental Maturation in Children.Journal of dental research · 2023Pooled it
- The PLAGL1-KLF4-IRX5 axis promotes the osteogenesis of periosteal progenitors during mandible regeneration.Nature communications · 2026Article
- Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.Human genomics · 2026Article
- Multiomic analysis of clonal development reveals new regulators of leukemic cell growth.Genes & development · 2026Article
- Article
- Multifaceted role of Iroquois signaling in development and diseases.Molecules and cells · 2025Review
- IRX3 controls a SUMOylation-dependent differentiation switch in adipocyte precursor cells.Nature communications · 2025Article
- Article
- TheiScience · 2025Article
- TheFrontiers in medicine · 2025Review
- Modeling human skeletal development using human pluripotent stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- IRX5 promotes DNA damage repair and activation of hair follicle stem cells.Stem cell reports · 2023Article
- Article
- Technologies, strategies, and cautions when deconvoluting genome-wide association signals: FTO in focus.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2023Review
- Article
- Gene expression analysis of the Xenopus laevis early limb bud proximodistal axis.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Nature communications · 2022Article
- IRX5 promotes adipogenesis of hMSCs by repressing glycolysis.Cell death discovery · 2022Article
- Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.Molecular syndromology · 2021Article
- A comprehensive series of Irx cluster mutants reveals diverse roles in facial cartilage development.Development (Cambridge, England) · 2021Article
Corrections and comments
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Authors and funding
12 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell populations in branchial arches and gonads by repressing Sdf1. We further found that transcriptional control by Irx5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1; disruptions of these proteins also cause craniofacial dysmorphisms. Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis.
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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.