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学科主题: 口腔医学
题名:
Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations
作者: Letra, A.1,2; Bjork, B.3; Cooper, M. E.4,5; Szabo-Rogers, H.6; Deleyiannis, F. W. B.7,8; Field, L. L.9; Czeizel, A. E.10; Ma, L.11; Garlet, G. P.12; Poletta, F. A.13; Mereb, J. C.14; Lopez-Camelo, J. S.15; Castilla, E. E.16; Orioli, I. M.17,18; Wendell, S.4,5; Blanton, S. H.19; Liu, K.6; Hecht, J. T.2; Marazita, M. L.4,5; Vieira, A. R.4,5; Silva, R. M.1,2
关键词: cleft lip and palate ; genetics ; gene expression ; gene-gene interactions ; wnt pathway ; craniofacial anomalies
刊名: JOURNAL OF DENTAL RESEARCH
发表日期: 2012-05-01
DOI: 10.1177/0022034512440578
卷: 91, 期:5, 页:473-478
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dentistry, Oral Surgery & Medicine
研究领域[WOS]: Dentistry, Oral Surgery & Medicine
关键词[WOS]: WNT GENES ; LIP ; PALATE ; CANCER ; RISK ; CRANIOSYNOSTOSIS ; MORPHOGENESIS ; EXPRESSION ; PHENOTYPE ; VARIANTS
英文摘要:

We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts.

语种: 英语
所属项目编号: R00DE018413 ; R00DE018954 ; R01DE016148 ; R01DE009886 ; R01DE012472
项目资助者: NIH
WOS记录号: WOS:000302916300007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54395
Appears in Collections:北京大学口腔医学院_期刊论文

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作者单位: 1.Fdn Community Control Hereditary Dis, Budapest, Hungary
2.Beijing Univ, Sch Stomatol, Beijing 100871, Peoples R China
3.Univ Sao Paulo, Dept Biol Sci, Bauru, Brazil
4.Hosp Area El Bolson, ECLAMC, El Bolson, Rio Negro, Argentina
5.Inst Biol, Dept Genet, ECLAMC, Rio De Janeiro, Brazil
6.INAGEMP Inst Nacl Genet Med Populac, Rio De Janeiro, Brazil
7.Univ Miami, Miller Sch Med, Miami, FL 33136 USA
8.Univ Texas Hlth Sci Ctr Houston, Sch Dent, Houston, TX 77030 USA
9.Univ Texas Hlth Sci Ctr Houston, Pediat Res Ctr, Houston, TX 77030 USA
10.Midwestern Univ, Chicago Coll Osteopath Med, Dept Biochem, Downers Grove, IL 60515 USA
11.Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Pittsburgh, PA 15260 USA
12.Univ Pittsburgh, Sch Dent Med, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15260 USA
13.Kings Coll London, Dept Craniofacial Dev, London, England
14.Univ Colorado, Sch Med, Dept Surg, Denver, CO USA
15.Univ Colorado, Sch Med, Dept Otolaryngol, Denver, CO USA
16.Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
17.CEMIC Ctr Med Educ & Clin Res, ECLAMC Latin Amer Collaborat Study Congenital Mal, Buenos Aires, DF, Argentina
18.IMBICE Multidisciplinary Inst Cellular Biol, ECLAMC, La Plata, Buenos Aires, Argentina
19.Fundacao Oswaldo Cruz, Dept Genet, INAGEMP CNPq Natl Inst Populat Med Genet, ECLAMC, Rio De Janeiro, RJ, Brazil

Recommended Citation:
Letra, A.,Bjork, B.,Cooper, M. E.,et al. Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations[J]. JOURNAL OF DENTAL RESEARCH,2012,91(5):473-478.
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