Dixon MJ - Search Results

1

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

Chaudhry SS, Gazzard J, Baldock C, Dixon J, Rock MJ, Skinner GC, Steel KP, Kielty CM, Dixon MJ. Chaudhry SS, et al. Among authors: dixon mj, dixon j. Hum Mol Genet. 2001 Apr 1;10(8):835-43. doi: 10.1093/hmg/10.8.835. Hum Mol Genet. 2001. PMID: 11285249

2

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.

Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ. Rajpar MH, et al. Among authors: dixon mj. Hum Mol Genet. 2002 Oct 1;11(21):2559-65. doi: 10.1093/hmg/11.21.2559. Hum Mol Genet. 2002. PMID: 12354781

3

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.

Marsh KL, Dixon J, Dixon MJ. Marsh KL, et al. Among authors: dixon mj, dixon j. Hum Mol Genet. 1998 Oct;7(11):1795-800. doi: 10.1093/hmg/7.11.1795. Hum Mol Genet. 1998. PMID: 9736782

4

Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.

Dixon MJ, Gazzard J, Chaudhry SS, Sampson N, Schulte BA, Steel KP. Dixon MJ, et al. Hum Mol Genet. 1999 Aug;8(8):1579-84. doi: 10.1093/hmg/8.8.1579. Hum Mol Genet. 1999. PMID: 10401008

5

Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.

Dixon J, Dixon MJ. Dixon J, et al. Among authors: dixon mj. Dev Dyn. 2004 Apr;229(4):907-14. doi: 10.1002/dvdy.20004. Dev Dyn. 2004. PMID: 15042714 Free article.

6

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

Little HJ, Rorick NK, Su LI, Baldock C, Malhotra S, Jowitt T, Gakhar L, Subramanian R, Schutte BC, Dixon MJ, Shore P. Little HJ, et al. Among authors: dixon mj. Hum Mol Genet. 2009 Feb 1;18(3):535-45. doi: 10.1093/hmg/ddn381. Epub 2008 Nov 26. Hum Mol Genet. 2009. PMID: 19036739 Free PMC article.

7

Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.

Richardson RJ, Dixon J, Jiang R, Dixon MJ. Richardson RJ, et al. Among authors: dixon mj, dixon j. Hum Mol Genet. 2009 Jul 15;18(14):2632-42. doi: 10.1093/hmg/ddp201. Epub 2009 May 13. Hum Mol Genet. 2009. PMID: 19439425 Free PMC article.

8

Trinucleotide repeat polymorphism at the D5S373 locus.

Dixon J, Dixon MJ. Dixon J, et al. Among authors: dixon mj. Hum Mol Genet. 1993 Jun;2(6):829. doi: 10.1093/hmg/2.6.829. Hum Mol Genet. 1993. PMID: 8353515 No abstract available.

9

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.

Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ. Gladwin AJ, et al. Among authors: dixon mj, dixon j. Hum Mol Genet. 1996 Oct;5(10):1533-8. doi: 10.1093/hmg/5.10.1533. Hum Mol Genet. 1996. PMID: 8894686

10

Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.

Dixon J, Hovanes K, Shiang R, Dixon MJ. Dixon J, et al. Among authors: dixon mj. Hum Mol Genet. 1997 May;6(5):727-37. doi: 10.1093/hmg/6.5.727. Hum Mol Genet. 1997. PMID: 9158147

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