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Journal Abstract Search

218 related items for PubMed ID: 17846996

  • 1. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.
    Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P.
    Am J Hum Genet; 2007 Oct; 81(4):700-12. PubMed ID: 17846996
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  • 2. Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.
    Fu X, Cheng Y, Yuan J, Huang C, Cheng H, Zhou R.
    Hum Genet; 2015 Feb; 134(2):147-58. PubMed ID: 25373698
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  • 3. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
    Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S.
    Hum Mol Genet; 2002 Oct 15; 11(22):2793-804. PubMed ID: 12374769
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  • 4. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
    Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P.
    Nat Genet; 2001 Oct 15; 29(2):179-83. PubMed ID: 11559848
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  • 6. Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.
    Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P.
    J Dent Res; 2011 Apr 15; 90(4):450-5. PubMed ID: 21248356
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  • 10. A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.
    Pauws E, Moore GE, Stanier P.
    J Med Genet; 2009 Aug 15; 46(8):555-61. PubMed ID: 19648124
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  • 13. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
    Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V.
    Clin Genet; 2007 Nov 15; 72(5):478-83. PubMed ID: 17868388
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  • 15. Sumoylation in Craniofacial Disorders.
    Pauws E, Stanier P.
    Adv Exp Med Biol; 2017 Nov 15; 963():323-335. PubMed ID: 28197921
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  • 16. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
    Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P.
    Hum Mol Genet; 2009 Nov 01; 18(21):4171-9. PubMed ID: 19648291
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  • 19. Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.
    Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H.
    Clin Dysmorphol; 2005 Jan 01; 14(1):23-25. PubMed ID: 15602089
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