Target gene analyses of 39 amelogenesis imperfecta kindreds
dc.contributor.author | Chan, Hui‐chen | en_US |
dc.contributor.author | Estrella, Ninna M. R. P. | en_US |
dc.contributor.author | Milkovich, Rachel N. | en_US |
dc.contributor.author | Kim, Jung‐Wook | en_US |
dc.contributor.author | Simmer, James P. | en_US |
dc.contributor.author | Hu, Jan C-C. | en_US |
dc.date.accessioned | 2012-03-16T15:59:12Z | |
dc.date.available | 2013-02-01T20:26:12Z | en_US |
dc.date.issued | 2011-12 | en_US |
dc.identifier.citation | Chan, Hui‐chen ; Estrella, Ninna M. R. P.; Milkovich, Rachel N.; Kim, Jung‐wook ; Simmer, James P.; Hu, Jan C‐c. (2011). "Target gene analyses of 39 amelogenesis imperfecta kindreds." European Journal of Oral Sciences 119. <http://hdl.handle.net/2027.42/90297> | en_US |
dc.identifier.issn | 0909-8836 | en_US |
dc.identifier.issn | 1600-0722 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/90297 | |
dc.publisher | Wiley Periodicals, Inc. | en_US |
dc.publisher | Blackwell Publishing Ltd | en_US |
dc.subject.other | Enamelin | en_US |
dc.subject.other | Enamelysin | en_US |
dc.subject.other | Kallikrein‐Related Peptidase 4 | en_US |
dc.subject.other | Amelogenin | en_US |
dc.subject.other | Ameloblastin | en_US |
dc.title | Target gene analyses of 39 amelogenesis imperfecta kindreds | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Dentistry | en_US |
dc.subject.hlbsecondlevel | Otolaryngology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Orthodontics and Pediatric Dentistry, University of Michigan School of Dentistry, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/90297/1/EOS_857_sm_FigsS1-S3.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/90297/2/j.1600-0722.2011.00857.x.pdf | |
dc.identifier.doi | 10.1111/j.1600-0722.2011.00857.x | en_US |
dc.identifier.source | European Journal of Oral Sciences | en_US |
dc.identifier.citedreference | O’Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli‐Junior H, Dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ. Whole‐exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet 2011; 88: 616 – 620. | en_US |
dc.identifier.citedreference | El‐Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al‐Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ. Mutations in the beta propeller WDR72 cause autosomal‐recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 2009; 85: 699 – 705. | en_US |
dc.identifier.citedreference | Krebsbach PH, Lee SK, Matsuki Y, Kozak CA, Yamada K, Yamada Y. Full‐length sequence, localization, and chromosomal mapping of ameloblastin: a novel tooth‐specific gene. J Biol Chem 1996; 271: 4431 – 4435. | en_US |
dc.identifier.citedreference | Iwasaki K, Bajenova E, Somogyi‐Ganss E, Miller M, Nguyen V, Nourkeyhani H, Gao Y, Wendel M, Ganss B. Amelotin – a Novel Secreted, Ameloblast‐specific protein. J Dent Res 2005; 84: 1127 – 1132. | en_US |
dc.identifier.citedreference | Moffatt P, Smith CE, Sooknanan R, St‐Arnaud R, Nanci A. Identification of secreted and membrane proteins in the rat incisor enamel organ using a signal‐trap screening approach. Eur J Oral Sci 2006; 114 ( Suppl 1 ): 139 – 146. | en_US |
dc.identifier.citedreference | Lee SK, Hu JC‐C, Bartlett JD, Lee KE, Lin BP‐J, Simmer JP, Kim JW. Mutational spectrum of FAM83H: the C‐terminal portion is required for tooth enamel calcification. Hum Mutat 2008; 29: E95 – E99. | en_US |
dc.identifier.citedreference | Sekiguchi H, Kiyoshi M, Yakushiji M. DNA diagnosis of X‐linked amelogenesis imperfecta using PCR detection method of the human amelogenin gene. Dent Japan 2001; 37: 109 – 112. | en_US |
dc.identifier.citedreference | Lagerstrom‐Fermer M, Nilsson M, Backman B, Salido E, Shapiro L, Pettersson U, Landegren U. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X‐linked amelogenesis imperfecta. Genomics 1995; 26: 159 – 162. | en_US |
dc.identifier.citedreference | Lench NJ, Winter GB. Characterisation of molecular defects in X‐linked amelogenesis imperfecta (AIH1). Hum Mutat 1995; 5: 251 – 259. | en_US |
dc.identifier.citedreference | Aldred MJ, Crawford PJ, Roberts E, Thomas NS. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X‐linked amelogenesis imperfecta (AIH1). Hum Genet 1992; 90: 413 – 416. | en_US |
dc.identifier.citedreference | Lench NJ, Brook AH, Winter GB. SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X‐linked amelogenesis imperfecta (AIH1). Hum Mol Genet 1994; 3: 827 – 828. | en_US |
dc.identifier.citedreference | Kida M, Sakiyama Y, Matsuda A, Takabayashi S, Ochi H, Sekiguchi H, Minamitake S, Ariga T. A novel missense mutation (p.P52R) in amelogenin gene causing X‐linked amelogenesis imperfecta. J Dent Res 2007; 86: 69 – 72. | en_US |
dc.identifier.citedreference | Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT. Amelogenesis imperfecta phenotype‐genotype correlations with two amelogenin gene mutations. Arch Oral Biol 2002; 47: 261 – 265. | en_US |
dc.identifier.citedreference | Sekiguchi H, Alaluusua S, Minaguchi K, Yakushiji M. A new mutation in the amelogenin gene causes X‐linked amelogenesis imperfecta. J Dent Res 2001; 80: 617. | en_US |
dc.identifier.citedreference | Greene SR, Yuan ZA, Wright JT, Amjad H, Abrams WR, Buchanan JA, Trachtenberg DI, Gibson CW. A new frameshift mutation encoding a truncated amelogenin leads to X‐linked amelogenesis imperfecta. Arch Oral Biol 2002; 47: 211 – 217. | en_US |
dc.identifier.citedreference | Lee K‐E, Lee S‐K, Jung S‐E, Song SJ, Cho SH, Lee ZH, Kim J‐W. A novel mutation in the AMELX gene and multiple crown resorptions. Eur J Oral Sci 2011; 119 (Suppl. 1): 324 – 328. | en_US |
dc.identifier.citedreference | Kindelan SA, Brook AH, Gangemi L, Lench N, Wong FS, Fearne J, Jackson Z, Foster G, Stringer BM. Detection of a novel mutation in X‐linked amelogenesis imperfecta. J Dent Res 2000; 79: 1978 – 1982. | en_US |
dc.identifier.citedreference | Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ. Mutation of the gene encoding the enamel‐specific protein, enamelin, causes autosomal‐dominant amelogenesis imperfecta. Hum Mol Genet 2001; 10: 1673 – 1677. | en_US |
dc.identifier.citedreference | Urzua OB, Ortega PA, Rodriguez ML, Morales BI. Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta. Rev Med Chil 2005; 133: 1331 – 1340. | en_US |
dc.identifier.citedreference | Gutierrez SJ, Chaves M, Torres DM, Briceno I. Identification of a novel mutation in the enamalin gene in a family with autosomal‐dominant amelogenesis imperfecta. Arch Oral Biol 2007; 52: 503 – 506. | en_US |
dc.identifier.citedreference | Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 2003; 40: 900 – 906. | en_US |
dc.identifier.citedreference | Wright JT, Frazier‐Bowers S, Simmons D, Alexander K, Crawford P, Han ST, Hart PS, Hart TC. Phenotypic variation in FAM83H‐associated amelogenesis imperfecta. J Dent Res 2009; 88: 356 – 360. | en_US |
dc.identifier.citedreference | Hart PS, Becerik S, Cogulu D, Emingil G, Ozdemir‐Ozenen D, Han ST, Sulima PP, Firatli E, Hart TC. Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. Clin Genet 2009; 75: 401 – 404. | en_US |
dc.identifier.citedreference | Hyun HK, Lee SK, Lee KE, Kang HY, Kim EJ, Choung PH, Kim JW. Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. Int Endod J 2009; 42: 1039 – 1043. | en_US |
dc.identifier.citedreference | El‐Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ. Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. Cells Tissues Organs 2010; 191: 235 – 239. | en_US |
dc.identifier.citedreference | Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir‐Karatas M, Firatli E, Piesco N, Hart TC. MMP20 active‐site mutation in hypomaturation amelogenesis imperfecta. J Dent Res 2005; 84: 1031 – 1035. | en_US |
dc.identifier.citedreference | Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW. MMP20 hemopexin domain mutation in amelogenesis imperfecta. J Dent Res 2010; 89: 46 – 50. | en_US |
dc.identifier.citedreference | El‐Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ. Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth. Cells Tissues Organs 2011; 194: 60 – 66. | en_US |
dc.identifier.citedreference | Witkop CJ Jr. Heterogeneity in inherited dental traits, gingival fibromatosis and amelogenesis imperfecta. South Med J 1971; 64 ( Suppl 1 ): 16 – 25. | en_US |
dc.identifier.citedreference | Witkop CJ Jr, Sauk JJ Jr. Heritable defects of enamel. In: Stewart RE, Prescott GH, eds. Oral facial genetics. St. Louis: C.V. Mosby Co, 1976; 151 – 226. | en_US |
dc.identifier.citedreference | Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1988; 17: 547 – 553. | en_US |
dc.identifier.citedreference | Simmer JP, Papagerakis P, Smith CE, Fisher DC, Rountrey AN, Zheng L, Hu JC. Regulation of dental enamel shape and hardness. J Dent Res 2010; 89: 1024 – 1038. | en_US |
dc.identifier.citedreference | Smith CE. Cellular and chemical events during enamel maturation. Crit Rev Oral Biol Med 1998; 9: 128 – 161. | en_US |
dc.identifier.citedreference | Sire JY, Delgado SC, Girondot M. Hen’s teeth with enamel cap: from dream to impossibility. BMC Evol Biol 2008; 8: 246. | en_US |
dc.identifier.citedreference | Davit‐Beal T, Tucker AS, Sire JY. Loss of teeth and enamel in tetrapods: fossil record, genetic data and morphological adaptations. J Anat 2009; 214: 477 – 501. | en_US |
dc.identifier.citedreference | Meredith RW, Gatesy J, Murphy WJ, Ryder OA, Springer MS. Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of placental mammals. PLoS Genet 2009; 5: e1000634. | en_US |
dc.identifier.citedreference | Meredith RW, Gatesy J, Cheng J, Springer MS. Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales. Proc Biol Sci 2010; 278: 993 – 1002. | en_US |
dc.identifier.citedreference | Al‐Hashimi N, Lafont AG, Delgado S, Kawasaki K, Sire JY. The enamelin genes in lizard, crocodile, and frog and the pseudogene in the chicken provide new insights on enamelin evolution in tetrapods. Mol Biol Evol 2010; 27: 2078 – 2094. | en_US |
dc.identifier.citedreference | Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC. Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci 2006; 114 ( Suppl 1 ): 3 – 12. | en_US |
dc.identifier.citedreference | Kim J‐W, Simmer JP, Hu YY, Lin BP‐L, Boyd C, Wright JT, Yamada CJM, Rayes SK, Feigal RJ, Hu JC‐C. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X‐linked amelogenesis imperfecta. J Dent Res 2004; 83: 378 – 383. | en_US |
dc.identifier.citedreference | Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC. ENAM mutations in autosomal‐dominant amelogenesis imperfecta. J Dent Res 2005; 84: 278 – 282. | en_US |
dc.identifier.citedreference | Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP. FAM83H mutations in families with autosomal‐dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet 2008; 82: 489 – 494. | en_US |
dc.identifier.citedreference | 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. Novel WDR72 mutation and cytoplasmic localization. J Dent Res 2010; 89: 1378 – 1382. | en_US |
dc.identifier.citedreference | Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 2004; 41: 545 – 549. | en_US |
dc.identifier.citedreference | Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC. MMP‐20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 2005; 42: 271 – 275. | en_US |
dc.identifier.citedreference | Papagerakis P, Lin HK, Lee KY, Hu Y, Simmer JP, Bartlett JD, Hu JC. Premature stop codon in MMP20 causing amelogenesis imperfecta. J Dent Res 2008; 87: 56 – 59. | en_US |
dc.identifier.citedreference | Ding Y, Estrella MR, Hu YY, Chan HL, Zhang HD, Kim JW, Simmer JP, Hu JC. Fam83h is associated with intracellular vesicles and ADHCAI. J Dent Res 2009; 88: 991 – 996. | en_US |
dc.identifier.citedreference | Chan HC, Mai L, Oikonomopoulou A, Chan HL, Richardson AS, Wang SK, Simmer JP, Hu JC. Altered enamelin phosphorylation site causes amelogenesis imperfecta. J Dent Res 2010; 89: 695 – 699. | en_US |
dc.identifier.citedreference | Backman B. Amelogenesis imperfecta – clinical manifestations in 51 families in a northern Swedish county. Scand J Dent Res 1988; 96: 505 – 516. | en_US |
dc.identifier.citedreference | Luo W, Slavkin HC, Snead ML. Cells from Hertwig’s epithelial root sheath do not transcribe amelogenin. J Periodontal Res 1991; 26: 42 – 47. | en_US |
dc.identifier.citedreference | Hu JC, Sun X, Zhang C, Simmer JP. A comparison of enamelin and amelogenin expression in developing mouse molars. Eur J Oral Sci 2001; 109: 125 – 132. | en_US |
dc.identifier.citedreference | Torres‐Quintana MA, Gaete M, Hernandez M, Farias M, Lobos N. Ameloblastin and amelogenin expression in posnatal developing mouse molars. J Oral Sci 2005; 47: 27 – 34. | en_US |
dc.identifier.citedreference | Berkman MD, Singer A. Demonstration of the lyon hypothesis in X‐linked dominant hypoplastic amelogenesis imperfecta. Birth Defects Orig Artic Ser 1971; 7: 204 – 209. | en_US |
dc.identifier.citedreference | Hobson GM, Gibson CW, Aragon M, Yuan ZA, Davis‐Williams A, Banser L, Kirkham J, Brook AH. A large X‐chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A 2009; 149A: 1698 – 1705. | en_US |
dc.identifier.citedreference | Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC. Relationship of phenotype and genotype in X‐linked amelogenesis imperfecta. Connect Tissue Res 2003; 44 ( Suppl 1 ): 72 – 78. | en_US |
dc.identifier.citedreference | Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A 2006; 140: 2547 – 2555. | en_US |
dc.identifier.citedreference | Collier PM, Sauk JJ, Rosenbloom SJ, Yuan ZA, Gibson CW. An amelogenin gene defect associated with human X‐linked amelogenesis imperfecta. Arch Oral Biol 1997; 42: 235 – 242. | en_US |
dc.identifier.citedreference | Hart S, Hart T, Gibson C, Wright JT. Mutational analysis of X‐linked amelogenesis imperfecta in multiple families. Arch Oral Biol 2000; 45: 79 – 86. | en_US |
dc.identifier.citedreference | Ravassipour DB, Hart PS, Hart TC, Ritter AV, Yamauchi M, Gibson C, Wright JT. Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res 2000; 79: 1476 – 1481. | en_US |
dc.identifier.citedreference | Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype‐phenotype studies in 71 families. Cells Tissues Organs 2011; 194: 279 – 283. | en_US |
dc.identifier.citedreference | Backman B, Holmgren G. Amelogenesis imperfecta: a genetic study. Hum Hered 1988; 38: 189 – 206. | en_US |
dc.identifier.citedreference | Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC. Phenotype of ENAM mutations is dosage‐dependent. J Dent Res 2005; 84: 1036 – 1041. | en_US |
dc.identifier.citedreference | Kang HY, Seymen F, Lee SK, Yildirim M, Tuna EB, Patir A, Lee KE, Kim JW. Candidate gene strategy reveals ENAM mutations. J Dent Res 2009; 88: 266 – 269. | en_US |
dc.identifier.citedreference | Pavlic A, Petelin M, Battelino T. Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185‐13186insAG and 8344delG. Arch Oral Biol 2007; 52: 209 – 217. | en_US |
dc.identifier.citedreference | Mårdh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman‐Semb K. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet 2002; 11: 1069 – 1074. | en_US |
dc.identifier.citedreference | Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. Autosomal‐dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon‐intron boundary. J Dent Res 2002; 81: 738 – 742. | en_US |
dc.identifier.citedreference | Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol 2003; 48: 589 – 596. | en_US |
dc.identifier.citedreference | Lindemeyer RG, Gibson CW, Wright TJ. Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype‐phenotype correlations. Pediatr Dent 2010; 32: 56 – 60. | en_US |
dc.identifier.citedreference | Hu JC, Hu Y, Smith CE, McKee MD, Wright JT, Yamakoshi Y, Papagerakis P, Hunter GK, Feng JQ, Yamakoshi F, Simmer JP. Enamel defects and ameloblast‐specific expression in Enam knock‐out/lacz knock‐in mice. J Biol Chem 2008; 283: 10858 – 10871. | en_US |
dc.identifier.citedreference | Sawada T, Sekiguchi H, Uchida T, Yamashita H, Shintani S, Yanagisawa T. Histological and immunohistochemical analyses of molar tooth germ in enamelin‐deficient mouse. Acta Histochem 2010; 113: 542 – 546. | en_US |
dc.identifier.citedreference | Lee MJ, Lee SK, Lee KE, Kang HY, Jung HS, Kim JW. Expression patterns of the Fam83h gene during murine tooth development. Arch Oral Biol 2009; 54: 846 – 850. | en_US |
dc.identifier.citedreference | Lee SK, Lee KE, Jeong TS, Hwang YH, Kim S, Hu JC, Simmer JP, Kim JW. FAM83H mutations cause ADHCAI and alter intracellular protein localization. J Dent Res 2011; 89: 1378 – 1382. | en_US |
dc.identifier.citedreference | Wright JT. Oral manifestations in the epidermolysis bullosa spectrum. Dermatol Clin 2010; 28: 159 – 164. | en_US |
dc.identifier.citedreference | McGrath JA, Gatalica B, Li K, Dunnill MG, McMillan JR, Christiano AM, Eady RA, Uitto J. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 1996; 148: 1787 – 1796. | en_US |
dc.identifier.citedreference | Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Retrospective diagnosis of fatal BP180‐deficient non‐Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen‐mapping of parental carriers bearing enamel defects. J Invest Dermatol 2007; 127: 1772 – 1775. | en_US |
dc.identifier.citedreference | Almaani N, Liu L, Dopping‐Hepenstal PJ, Lovell PA, Lai‐Cheong JE, Graham RM, Mellerio JE, McGrath JA. Autosomal dominant junctional epidermolysis bullosa. Br J Dermatol 2009; 160: 1094 – 1097. | en_US |
dc.identifier.citedreference | Kirzioglu Z, Ulu KG, Sezer MT, Yuksel S. The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome. Med Oral Patol Oral Cir Bucal 2009; 14: e579 – e582. | en_US |
dc.identifier.citedreference | Martelli‐Junior H, Santos Neto PE, Aquino SN, Santos CC, Borges SP, Oliveira EA, Lopes MA, Coletta RD. Amelogenesis imperfecta and nephrocalcinosis Syndrome: a case report and review of the literature. Nephron Physiol 2011; 118: p62 – p65. | en_US |
dc.identifier.citedreference | Nusier M, Yassin O, Hart TC, Samimi A, Wright JT. Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004; 97: 220 – 230. | en_US |
dc.identifier.citedreference | Lu Y, Papagerakis P, Yamakoshi Y, Hu JC, Bartlett JD, Simmer JP. Functions of KLK4 and MMP‐20 in dental enamel formation. Biol Chem 2008; 389: 695 – 700. | en_US |
dc.identifier.citedreference | Sun Z, Fan D, Fan Y, Du C, Moradian‐Oldak J. Enamel proteases reduce amelogenin‐apatite binding. J Dent Res 2008; 87: 1133 – 1137. | en_US |
dc.identifier.citedreference | Smith CE, Richardson AS, Hu Y, Bartlett JD, Hu JC, Simmer JP. Effect of kallikrein 4 loss on enamel mineralization: comparison with mice lacking matrix metalloproteinase 20. J Biol Chem 2011; 286: 18149 – 18160. | en_US |
dc.identifier.citedreference | Caterina JJ, Skobe Z, Shi J, Ding Y, Simmer JP, Birkedal‐Hansen H, Bartlett JD. Enamelysin (matrix metalloproteinase 20)‐deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem 2002; 277: 49598 – 49604. | en_US |
dc.identifier.citedreference | Bartlett JD, Beniash E, Lee DH, Smith CE. Decreased mineral content in MMP‐20 null mouse enamel is prominent during the maturation stage. J Dent Res 2004; 83: 909 – 913. | en_US |
dc.identifier.citedreference | Simmer JP, Hu Y, Lertlam R, Yamakoshi Y, Hu JC. Hypomaturation enamel defects in Klk4 knockout/LacZ knockin mice. J Biol Chem 2009; 284: 19110 – 19121. | en_US |
dc.identifier.citedreference | Simmer J, Hu Y, Richardson A, Bartlett J, Hu JC‐C. Why does enamel in Klk4 null mice break above the dentino–enamel junction? Cells Tissues Organs 2011; 194: 211 – 215. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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