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Results: 1 to 20 of 172

1.

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.

PMID:
18714142
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).

Masuya H, Shimizu K, Sezutsu H, Sakuraba Y, Nagano J, Shimizu A, Fujimoto N, Kawai A, Miura I, Kaneda H, Kobayashi K, Ishijima J, Maeda T, Gondo Y, Noda T, Wakana S, Shiroishi T.

Hum Mol Genet. 2005 Mar 1;14(5):575-83. Epub 2005 Jan 13.

PMID:
15649948
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

PMID:
22243248
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
14684688
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Kallikrein-related peptidase 4, matrix metalloproteinase 20, and the maturation of murine and porcine enamel.

Hu Y, Hu JC, Smith CE, Bartlett JD, Simmer JP.

Eur J Oral Sci. 2011 Dec;119 Suppl 1:217-25. doi: 10.1111/j.1600-0722.2011.00859.x.

PMID:
22243249
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
19530186
[PubMed - indexed for MEDLINE]
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.

PMID:
22243262
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Amelogenesis imperfecta: an introduction.

Gadhia K, McDonald S, Arkutu N, Malik K.

Br Dent J. 2012 Apr 27;212(8):377-9. doi: 10.1038/sj.bdj.2012.314. Review.

PMID:
22538897
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
24072097
[PubMed - indexed for MEDLINE]
11.

Phenotype of ENAM mutations is dosage-dependent.

Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC.

J Dent Res. 2005 Nov;84(11):1036-41.

PMID:
16246937
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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. Epub .

PMID:
19966041
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
20067920
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

ENAM mutations in autosomal-dominant amelogenesis imperfecta.

Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC.

J Dent Res. 2005 Mar;84(3):278-82.

PMID:
15723871
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Wright JT.

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

PMID:
16838342
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genes and related proteins involved in amelogenesis imperfecta.

Stephanopoulos G, Garefalaki ME, Lyroudia K.

J Dent Res. 2005 Dec;84(12):1117-26. Review.

PMID:
16304440
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
17266769
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
23355523
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Analysis of human enamel genes: insights into genetic disorders of enamel.

Lau EC, Slavkin HC, Snead ML.

Cleft Palate J. 1990 Apr;27(2):121-30. Review.

PMID:
2187631
[PubMed - indexed for MEDLINE]

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