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185 related items for PubMed ID: 19546318

  • 1. Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.
    Cocquempot O, Brault V, Babinet C, Herault Y.
    Genetics; 2009 Sep; 183(1):23-30. PubMed ID: 19546318
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  • 2. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
    Zhao XL, Meng JP, Sun M, Ao Y, Wu AH, Lo HY, Zhang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):5-9. PubMed ID: 15696469
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  • 3. A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.
    Johnson KR, Sweet HO, Donahue LR, Ward-Bailey P, Bronson RT, Davisson MT.
    Hum Mol Genet; 1998 Jun; 7(6):1033-8. PubMed ID: 9580668
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  • 7. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
    Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S.
    Hum Mol Genet; 2004 Oct 15; 13(20):2351-9. PubMed ID: 15333588
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  • 8. The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.
    Bruneau S, Johnson KR, Yamamoto M, Kuroiwa A, Duboule D.
    Dev Biol; 2001 Sep 15; 237(2):345-53. PubMed ID: 11543619
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  • 10. Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
    Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH.
    BMC Med Genet; 2007 Dec 11; 8():78. PubMed ID: 18072967
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  • 12. The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
    Albrecht AN, Schwabe GC, Stricker S, Böddrich A, Wanker EE, Mundlos S.
    Mech Dev; 2002 Mar 11; 112(1-2):53-67. PubMed ID: 11850178
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  • 17. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
    Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M.
    Hum Mol Genet; 1996 Jul 11; 5(7):945-52. PubMed ID: 8817328
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  • 18. An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
    Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V.
    Development; 2003 Apr 11; 130(8):1701-12. PubMed ID: 12620993
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  • 19. Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.
    Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW.
    Am J Med Genet A; 2013 May 11; 161A(5):1019-27. PubMed ID: 23532960
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  • 20. Limb skeletal malformations - what the HOX is going on?
    Brison N, Tylzanowski P, Debeer P.
    Eur J Med Genet; 2012 Jan 11; 55(1):1-7. PubMed ID: 21782042
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