ArticleDevelopmental dynamics : an official publication of the American Association of Anatomists2008
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.
Article in Developmental dynamics : an official publication of the American Association of Anatomists, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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.
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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
25 citing papers in PubMed, 37 citations in OpenAlex.
- Caspase 9-induced apoptosis enables efficient fetal cell ablation and disease modeling.Nature communications · 2025Article
- TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.Development (Cambridge, England) · 2024Article
- The SIX Family of Transcription Factors: Common Themes Integrating Developmental and Cancer Biology.Frontiers in cell and developmental biology · 2021Review
- Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.Journal of dental research · 2019Article
- Transcriptome analysis of Xenopus orofacial tissues deficient in retinoic acid receptor function.BMC genomics · 2018Article
- FACS-Seq analysis of Pax3-derived cells identifies non-myogenic lineages in the embryonic forelimb.Scientific reports · 2018Article
- Transcriptional regulatory control of mammalian nephron progenitors revealed by multi-factor cistromic analysis and genetic studies.PLoS genetics · 2018Article
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- Peroxisome proliferator-activated receptor gamma (PPARγ) is central to the initiation and propagation of human angiomyolipoma, suggesting its potential as a therapeutic targetEMBO molecular medicine · 2017Article
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- Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Molecular syndromology · 2016Review
- Using frogs faces to dissect the mechanisms underlying human orofacial defects.Seminars in cell & developmental biology · 2016Review
- A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.American journal of medical genetics. Part A · 2016Article
- Combinatorial activity of Six1-2-4 genes in cephalic neural crest cells controls craniofacial and brain development.Cellular and molecular life sciences : CMLS · 2014Article
- Molecular and cellular changes associated with the evolution of novel jaw muscles in parrots.Proceedings. Biological sciences · 2013Article
- Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse.Birth defects research. Part A, Clinical and molecular teratology · 2012Article
- Microtia: epidemiology and genetics.American journal of medical genetics. Part A · 2012Review
- Neural crest cell survival is dependent on Rho kinase and is required for development of the mid face in mouse embryos.PloS one · 2012Article
- Osmoregulatory defect in adult mice associated with deficient prenatal expression of six2.American journal of physiology. Regulatory, integrative and comparative physiology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
A radiation-induced mouse mutant, Brachyrrhine (Br), exhibits frontonasal dysplasia and renal hypoplasia, two malformations associated with deficiencies in mesenchymal condensation. The purpose of this study was to resolve the Br locus, evaluate possible candidate genes, and identify developmental defects in the mutant chondrocranium. Linkage analysis mapped the Br mutation to a critical region distal to D17Mit76, which contains only one gene, the transcription factor Six2. Sequence analysis of the Six2 gene, including 1.5 kb of the promoter, failed to reveal the Br mutation. However, homozygous Br/Br embryos showed almost complete absence of Six2 mRNA and protein in craniofacial and renal tissues while heterozygous Br/+ embryos displayed intermediate Six2 levels. Mutant embryos displayed malformations of neural crest-derived structures of the anterior cranium where Six2 is normally expressed. These data suggest a mutation in a novel cis-acting regulatory region inhibits Six2 expression and is associated with frontonasal dysplasia and renal hypoplasia.
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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.