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非综合症性唇腭裂的病因研究进展 被引量：1

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摘要 先天性唇腭裂为人类最常见的出生后颅面缺陷和先天畸形之一,可单独发生或伴发与染色体或基因表达异常及外源致畸因素导致的发育缺陷综合征。目前对综合症性唇腭裂的发病机制有较多了解,而对临床上更为常见的非综合征性唇腭裂（nonsyndromic cleft of lip with or without palate,NSCL/P）的发病机制了解仍然有限。
作者 张艳萍 柴继侠
机构地区 山东省计划生育科学技术研究所优生技术重点实验室 蚌埠医学院组织胚胎学教研室
出处 《蚌埠医学院学报》 CAS 2014年第5期694-696,共3页 Journal of Bengbu Medical College
基金 山东省自然科学基金资助项目(2009ZRA01193)
关键词 唇裂 腭裂 基因 环境 综述
分类号 R780.2 [医药卫生—口腔医学]
  • 相关文献

参考文献29

  • 1胡浪,仇小强.唇腭裂相关基因的研究进展[J].现代预防医学,2007,34(1):55-57. 被引量：3
  • 2Ardinger HH, Buetow KH, Bell GI, et al. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate[ J ]. Am J Hum Genet, 1989,45 ( 3 ) :348 - 353.
  • 3杨树楷,万伟东.非综合征性唇腭裂的遗传学研究进展[J].东南大学学报（医学版）,2011,30(5):801-809. 被引量：4
  • 4Yuan Q, Blanton SH, Hecht JT. Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate[ J]. Am J Med Genet A,2011,155A(6) :1469 -1471.
  • 5Beaty TH, Murray JC, Marazita ML, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 [ J ]. Nat Genet, 2010,42(6) :525 -529.
  • 6Slavotinek AM,Chao R,Vacik T,et al. VAX1 mutation associated with mierophthalmia, corpus callosum agenesis, and orofaeial clefting:the first description of a V AX1 phenotype in humans[ J ]. Hum Mutat,2012,33 (2) :364 - 368.
  • 7Song L,Tuan RS. MieroRNAs and cell differentiation in mammalian development [ J ]. Birth Defects Res C Embryo Today, 2006, 78(2) :140 - 149.
  • 8Zidar N, Bog tjand ic E, Gale N, et al. Down-regulation of mieroRNAs of the miR-200 family and miR-205, and an altered expression of classic and desmosomal eadherins in spindle cell carcinoma of the head and neck-hallmark of epithelial-mesenchymal transition [ J ]. Hum Pathol, 2011,42 ( 4 ) :482 - 488.
  • 9Powder KE, Ku YC, Brugmann SA,et al. A Cross-Species Analysis of MieroRNAs in the Developing Avian Face [ J ]. PLoS One, 2012,7(4) :1 -11.
  • 10Liu Y, Huang T, Zhao X, et al. MicroRNAs modulate the Wnt signaling pathway through targeting its inhibitors [ J ]. Biochem Biophys Res C ommun, 2011,408 ( 2 ) :259 - 264.

二级参考文献151

  • 1孙丰运,万秀霞,赵旭,李彦娜.酒精并香烟烟雾对雄性小鼠生殖细胞的遗传损伤作用[J].康复与疗养杂志,1997,12(1):1-3. 被引量：4
  • 2BRAYBROOK C,LISGO S,DOUDNEY K,et al.Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients[J].Hum Mol Genet,2002,11:2793-2804.
  • 3BUSH J O,LAN Y,MALTBY K M,et al.Isolation and developmental expression analysis of Tbx22,the mouse homolog of the human X-linked cleft palate gene[J].Dev Dyn,2002,225:322-326.
  • 4LIU W,LAN Y,PAUWS E,et al.The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth inmice[J].Development,2008,135:3959-3968.
  • 5PAYLOR R,GLASER B,MUPO A,et al.Tbx1 haploin-suffciency is linked to behavioral disorders in mice and humans:implications for 22q11 deletion syndrome[J].Proc Natl Acad Sci USA,2006,103:7729-7734.
  • 6ZWEIER C,STICHT H,AYDIN-YAYLAGUL I,et al.Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions[J].Am J Hum Genet,2007,80:510-517.
  • 7KOBRYNSKI L J,SULLIVAN K E.Velocardiofacial syndrome,DiGeorge syndrome:the chromosome 22q11.2 deletion syndromes[J].Lancet,2007,370:1443-1452.
  • 8JEROME L A,PAPAIOANNOU V E.DiGeorge syndrome phenotype in mice mutant for the T-box gene,Tbx1[J].Nat Genet,2001,27:286-291.
  • 9VITELLI F,MORISHIMA M,TADDEI I,et al.Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways[J].Hum Mol Genet,2002,11:915-922.
  • 10BUSH J O,LAN Y,JIANG R.The cleft lip and palate defects in Dancermutantmice result fromgain of function of the Tbx10 gene[J].Proc Natl Acad Sci USA,2004,101:7022-7027.

共引文献5

同被引文献22

  • 1王丽君,万伟东,黄金龙.中国人群非综合征性唇腭裂与MTHFR基因C677T多态性[J].江苏医药,2006,32(8):701-702. 被引量：6
  • 2范国正,李运良,吴平安.视黄酸受体α基因多态性与非综合征性唇腭裂遗传易感性的关联研究[J].中华医学杂志,2007,87(6):396-398. 被引量：3
  • 3A Jugessur, JC Murray. Orofacial clefting: recent in- sights into a complex trait[J]. Current Opinion in Ge- netics & Development,2005,15(3) ..270-278.
  • 4van Rooij IALM, Vermeij-Keers C,Kluijtmans LAJ, et al. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymor- phisms affect the risk of cleft lip with or without cleft palate? EJ]. American Journal of Epidemiology, 2003, 157(7) : 58;-591.
  • 5Scapoli L, Pezzetti F, Carinci F, et al. Lack of linkage disequilibrium between transforming growth factor al- pha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern ItalyEJ~. A- merican Journal of Medical Genetics, 1998,75 (2) : 203- 206.
  • 6Ardinger HH, Buetow KH, Bell GI, et al. Association of genetic variation of the transforming growth factor- alpha gene with cleft lip and palate[J]. American Jour- nal of Human Genetics, 1989,45 (3) .. 348.
  • 7Mitchell LE. Transforming growth factor a locus and nonsyndromic cleft lip with or without cleft palate: A reappraisal[J]. Genetic Epidemiology, 1997,14(3) : 231- 240.
  • 8Modesto A, Moreno LM, Krahn K, et al. MSX1 and orofacial clefting with and without tooth agenesis[J]. Journal of Dental Research, 2006,85 (6) : 542-546.
  • 9Jezewski PA, Vieira AR, Nishimura C, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate[J]. Journal of Medical Genetics,2003,40(6) .. 399-407.
  • 10Avila JR, Jezewski PA, Vieira AR, et al. PVRL1 vari- ants contribute to non-syndromic cleft lip and palate in multiple populations EJ~. American Journal of Medical Genetics Part A,2006,140(23)..2 562-2 570.

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蚌埠医学院学报
2014年 第5期

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