Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 176

1.

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.

Wang SK, Hu Y, Simmer JP, Seymen F, Estrella NM, Pal S, Reid BM, Yildirim M, Bayram M, Bartlett JD, Hu JC.

J Dent Res. 2013 Mar;92(3):266-71. doi: 10.1177/0022034513475626. Epub 2013 Jan 25.

2.

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.

3.

Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta.

Seymen F, Park JC, Lee KE, Lee HK, Lee DS, Koruyucu M, Gencay K, Bayram M, Tuna EB, Lee ZH, Kim YJ, Kim JW.

J Dent Res. 2015 Aug;94(8):1063-9. doi: 10.1177/0022034515590569. Epub 2015 Jun 29.

PMID:
26124219
4.

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.

Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir-Karatas M, Firatli E, Piesco N, Hart TC.

J Dent Res. 2005 Nov;84(11):1031-5.

5.

MMP20 hemopexin domain mutation in amelogenesis imperfecta.

Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW.

J Dent Res. 2010 Jan;89(1):46-50. doi: 10.1177/0022034509352844.

6.

LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC.

J Dent Res. 2013 Oct;92(10):899-904. doi: 10.1177/0022034513502054. Epub 2013 Aug 19.

7.

Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.

Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW.

Cells Tissues Organs. 2009;189(1-4):224-9. doi: 10.1159/000151378. Epub 2008 Aug 19.

8.

Premature stop codon in MMP20 causing amelogenesis imperfecta.

Papagerakis P, Lin HK, Lee KY, Hu Y, Simmer JP, Bartlett JD, Hu JC.

J Dent Res. 2008 Jan;87(1):56-9.

9.

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.

J Med Genet. 2003 Dec;40(12):900-6.

10.

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.

11.

Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression.

Xie X, Liu C, Zhang H, Jani PH, Lu Y, Wang X, Zhang B, Qin C.

Sci Rep. 2016 May 5;6:25364. doi: 10.1038/srep25364.

12.

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A.

J Dent Res. 2013 Jul;92(7):598-603. doi: 10.1177/0022034513488393. Epub 2013 Apr 26.

PMID:
23625376
13.

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

El-Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ.

Cells Tissues Organs. 2010;191(3):235-9. doi: 10.1159/000252801. Epub 2009 Oct 22.

14.

Novel WDR72 mutation and cytoplasmic localization.

Lee SK, Seymen F, Lee KE, Kang HY, Yildirim M, Tuna EB, Gencay K, Hwang YH, Nam KH, De La Garza RJ, Hu JC, Simmer JP, Kim JW.

J Dent Res. 2010 Dec;89(12):1378-82. doi: 10.1177/0022034510382117. Epub 2010 Oct 11.

15.

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.

Lee SK, Hu JC, Bartlett JD, Lee KE, Lin BP, Simmer JP, Kim JW.

Hum Mutat. 2008 Aug;29(8):E95-9. doi: 10.1002/humu.20789.

16.

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A.

Hum Mol Genet. 2015 Jun 1;24(11):3038-49. doi: 10.1093/hmg/ddv053. Epub 2015 Feb 10.

17.

Enamel proteins and proteases in Mmp20 and Klk4 null and double-null mice.

Yamakoshi Y, Richardson AS, Nunez SM, Yamakoshi F, Milkovich RN, Hu JC, Bartlett JD, Simmer JP.

Eur J Oral Sci. 2011 Dec;119 Suppl 1:206-16. doi: 10.1111/j.1600-0722.2011.00866.x.

18.

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ.

Hum Mol Genet. 2014 Apr 15;23(8):2189-97. doi: 10.1093/hmg/ddt616. Epub 2013 Dec 6.

19.

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT.

Am J Med Genet A. 2006 Dec 1;140(23):2547-55. Review.

20.

Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.

Pavlic A, Petelin M, Battelino T.

Arch Oral Biol. 2007 Mar;52(3):209-17. Epub 2006 Nov 27.

PMID:
17125728

Supplemental Content

Support Center