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Items: 1 to 20 of 204

1.

Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.

Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN, Estrella NM, Yildirim M, Bayram M, Chen CF, Simmer JP.

PLoS One. 2012;7(12):e52052. doi: 10.1371/journal.pone.0052052. Epub 2012 Dec 14.

2.

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta.

Barron MJ, Brookes SJ, Kirkham J, Shore RC, Hunt C, Mironov A, Kingswell NJ, Maycock J, Shuttleworth CA, Dixon MJ.

Hum Mol Genet. 2010 Apr 1;19(7):1230-47. doi: 10.1093/hmg/ddq001. Epub 2010 Jan 12.

3.

Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locus.

Prakash SK, Gibson CW, Wright JT, Boyd C, Cormier T, Sierra R, Li Y, Abrams WR, Aragon MA, Yuan ZA, van den Veyver IB.

Calcif Tissue Int. 2005 Jul;77(1):23-9. Epub 2005 Jul 14.

PMID:
16007484
4.

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.

Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT.

Arch Oral Biol. 2002 Apr;47(4):261-5.

PMID:
11922869
5.

Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation.

Ravassipour DB, Hart PS, Hart TC, Ritter AV, Yamauchi M, Gibson C, Wright JT.

J Dent Res. 2000 Jul;79(7):1476-81.

PMID:
11005731
6.

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.

Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC.

J Dent Res. 2004 May;83(5):378-83.

PMID:
15111628
7.

Alteration of conserved alternative splicing in AMELX causes enamel defects.

Cho ES, Kim KJ, Lee KE, Lee EJ, Yun CY, Lee MJ, Shin TJ, Hyun HK, Kim YJ, Lee SH, Jung HS, Lee ZH, Kim JW.

J Dent Res. 2014 Oct;93(10):980-7. doi: 10.1177/0022034514547272. Epub 2014 Aug 12.

8.

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC.

Eur J Oral Sci. 2011 Dec;119 Suppl 1:311-23. doi: 10.1111/j.1600-0722.2011.00857.x.

9.

Imaging RNA polymerase-amelogenin gene complexes with single molecule resolution using atomic force microscopy.

Crampton N, Thomson NH, Kirkham J, Gibson CW, Bonass WA.

Eur J Oral Sci. 2006 May;114 Suppl 1:133-8; discussion 164-5, 380-1.

PMID:
16674675
10.

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta.

Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC.

Connect Tissue Res. 2003;44 Suppl 1:72-8. Review.

PMID:
12952177
11.

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC.

Am J Med Genet A. 2009 Jul;149A(7):1392-8. doi: 10.1002/ajmg.a.32885.

12.

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.

Santos MC, Hart PS, Ramaswami M, Kanno CM, Hart TC, Line SR.

Head Face Med. 2007 Jan 31;3:8.

13.

Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations.

Coxon TL, Brook AH, Barron MJ, Smith RN.

Cells Tissues Organs. 2012;196(5):420-30. doi: 10.1159/000336440. Epub 2012 Jun 28.

14.

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ.

Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. doi: 10.1093/hmg/ddw203. Epub 2016 Jul 12.

15.

Transgenic mice that express normal and mutated amelogenins.

Gibson CW, Yuan ZA, Li Y, Daly B, Suggs C, Aragon MA, Alawi F, Kulkarni AB, Wright JT.

J Dent Res. 2007 Apr;86(4):331-5.

PMID:
17384027
16.

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families.

Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC.

Eur J Oral Sci. 2006 May;114 Suppl 1:3-12; discussion 39-41, 379.

17.

A nomenclature for X-linked amelogenesis imperfecta.

Hart PS, Hart TC, Simmer JP, Wright JT.

Arch Oral Biol. 2002 Apr;47(4):255-60. Review.

PMID:
11922868
18.

The use of animal models to explore amelogenin variants in amelogenesis imperfecta.

Gibson CW, Kulkarni AB, Wright JT.

Cells Tissues Organs. 2005;181(3-4):196-201. Review.

PMID:
16612085
19.

Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.

Lagerström-Fermér M, Nilsson M, Bäckman B, Salido E, Shapiro L, Pettersson U, Landegren U.

Genomics. 1995 Mar 1;26(1):159-62.

PMID:
7782077
20.

M180 amelogenin processed by MMP20 is sufficient for decussating murine enamel.

Pugach MK, Suggs C, Li Y, Wright JT, Kulkarni AB, Bartlett JD, Gibson CW.

J Dent Res. 2013 Dec;92(12):1118-22. doi: 10.1177/0022034513506444. Epub 2013 Sep 26.

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