ArticleJournal of human genetics2006
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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
28 citing papers in PubMed, 60 citations in OpenAlex.
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- Association ofGenes · 2025Article
- Spatial Multi-omics Reveals the Role of the Wnt Modulator, Dkk2, in Palatogenesis'.Journal of dental research · 2024Article
- Tendon-associated gene expression precedes osteogenesis in mid-palatal suture establishment.bioRxiv : the preprint server for biology · 2024Article
- Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations.Epidemiology and health · 2024Article
- Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic.Genes · 2023Review
- Article
- Genetic Factors in Nonsyndromic Orofacial Clefts.Global medical genetics · 2020Review
- Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation.Developmental biology · 2020Article
- Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models.Disease models & mechanisms · 2019Review
- Analysis of dermal fibroblasts isolated from neonatal and child cleft lip and adult skin: Developmental implications on reconstructive surgery.International journal of molecular medicine · 2017Article
- From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models.Current topics in developmental biology · 2015Review
- The effect of sevoflurane on developing A/J strain mouse embryos using a whole-embryo culture system--the incidence of cleft lip in culture embryos.In vitro cellular & developmental biology. Animal · 2014Article
- Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.Clinical genetics · 2013Article
- Analysis of microsatellite polymorphisms in South Indian patients with non syndromic cleft lip and palate.Balkan journal of medical genetics : BJMG · 2013Article
- Systematic analysis of palatal transcriptome to identify cleft palate genes within TGFβ3-knockout mice alleles: RNA-Seq analysis of TGFβ3 Mice.BMC genomics · 2013Article
- TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.PloS one · 2013Article
- The control and importance of hyaluronan synthase expression in palatogenesis.Frontiers in physiology · 2013Article
- Intra-amniotic transient transduction of the periderm with a viral vector encoding TGFβ3 prevents cleft palate in Tgfβ3(-/-) mouse embryos.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.Archives of medical science : AMS · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prevalence of nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are believed to be higher in the Japanese than in Americans, Europeans or Africans. The purpose of this study was to investigate, in a Japanese population, relationships between CL/P or CPO and seven candidate genes (TGFB3, DLX3, PAX9, CLPTM1, TBX10, PVRL1, TBX22) that showed positive associations in other populations and are expressed in the oral/lip region in developing mice. We first searched for mutations in these genes among 112 CL/P and 16 CPO patients, and found a heterozygous missense mutation (640A > G, S214G) in exon 3 of PAX9 in two sibs with CL/P and their phenotypically normal mother from a Japanese family. A population-based case-control analysis and a family-based transmission disequilibrium test (TDT), using single nucleotide polymorphisms (SNPs), and two-SNP haplotypes of the genes, between the 112 CL/P cases with their parents and 192 controls indicated a significant association at one SNP site, IVS1 + 5321, in TGFB3 with a P-value of 0.0016. Population-based haplotyping revealed that the association was most significant for haplotype "A/A" consisting of IVS1 + 5321 and IVS1 - 1572; TDT also gave a P-value of 0.0252 in this haplotype.
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.