{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,4]],"date-time":"2024-08-04T09:52:35Z","timestamp":1722765155305},"reference-count":62,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI have been identified to date. AMI rat has been reported as an autosomal recessive mutant with hypoplastic AI isolated from a colony of stroke-prone spontaneously hypertensive rat strain, but the causative gene has not yet been clarified. Through a genetic screen, we identified the causative gene of autosomal recessive AI in AMI and analyzed its role in amelogenesis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>cDNA sequencing of possible AI-candidate genes so far identified using total RNA of day 6 AMI rat molars identified a novel responsible mutation in <jats:italic>specificity protein 6<\/jats:italic> (<jats:italic>Sp6<\/jats:italic>). Genetic linkage analysis was performed between <jats:italic>Sp6<\/jats:italic> and AI phenotype in AMI. To understand a role of SP6 in AI, we generated the transgenic rats harboring <jats:italic>Sp6<\/jats:italic> transgene in AMI (<jats:italic>Ami<\/jats:italic>\/<jats:italic>Ami<\/jats:italic>\u2009+\u2009<jats:italic>Tg<\/jats:italic>). Histological analyses were performed using the thin sections of control rats, AMI, and <jats:italic>Ami<\/jats:italic>\/<jats:italic>Ami<\/jats:italic>\u2009+\u2009<jats:italic>Tg<\/jats:italic> incisors in maxillae, respectively.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We found the novel genetic linkage between a 2-bp insertional mutation of <jats:italic>Sp6<\/jats:italic> gene and the AI phenotype in AMI rats. The position of mutation was located in the coding region of <jats:italic>Sp6<\/jats:italic>, which caused frameshift mutation and disruption of the third zinc finger domain of SP6 with 11 cryptic amino acid residues and a stop codon. Transfection studies showed that the mutant protein can be translated and localized in the nucleus in the same manner as the wild-type SP6 protein. When we introduced the CMV promoter-driven wild-type <jats:italic>Sp6<\/jats:italic> transgene into AMI rats, the SP6 protein was ectopically expressed in the maturation stage of ameloblasts associated with the extended maturation stage and the shortened reduced stage without any other phenotypical changes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>We propose the addition of <jats:italic>Sp6<\/jats:italic> mutation as a new molecular diagnostic criterion for the autosomal recessive AI patients. Our findings expand the spectrum of genetic causes of autosomal recessive AI and sheds light on the molecular diagnosis for the classification of AI. Furthermore, tight regulation of the temporospatial expression of SP6 may have critical roles in completing amelogenesis.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-7-34","type":"journal-article","created":{"date-parts":[[2012,6,15]],"date-time":"2012-06-15T09:54:20Z","timestamp":1339754060000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta"],"prefix":"10.1186","volume":"7","author":[{"given":"Taro","family":"Muto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Miyoshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taigo","family":"Horiguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Hagita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takafumi","family":"Noma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,6,7]]},"reference":[{"key":"379_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/1750-1172-2-17","volume":"2","author":"PJ Crawford","year":"2007","unstructured":"Crawford PJ, Aldred M, Bloch-Zupan A: Amelogenesis imperfecta. Orphanet J Rare Dis. 2007, 2: 17-10.1186\/1750-1172-2-17.","journal-title":"Orphanet J Rare Dis"},{"key":"379_CR2","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1111\/j.1600-0714.1988.tb01332.x","volume":"17","author":"CJ Jr Witkop","year":"1988","unstructured":"Witkop CJ Jr: Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988, 17: 547-553. 10.1111\/j.1600-0714.1988.tb01332.x.","journal-title":"J Oral Pathol"},{"key":"379_CR3","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1002\/humu.21621","volume":"33","author":"SH Cho","year":"2011","unstructured":"Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW: Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat. 2011, 33: 91-94.","journal-title":"Hum Mutat"},{"key":"379_CR4","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1016\/j.ajhg.2011.04.005","volume":"88","author":"J O'Sullivan","year":"2011","unstructured":"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. 10.1016\/j.ajhg.2011.04.005.","journal-title":"Am J Hum Genet"},{"key":"379_CR5","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/1746-160X-3-8","volume":"3","author":"MC Santos","year":"2007","unstructured":"Santos MC, Hart PS, Ramaswami M, Kanno CM, Hart TC, Line SR: Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta. Head Face Med. 2007, 3: 8-10.1186\/1746-160X-3-8.","journal-title":"Head Face Med"},{"key":"379_CR6","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1007\/s10528-010-9392-6","volume":"49","author":"B Urzua","year":"2011","unstructured":"Urzua B, Ortega-Pinto A, Morales-Bozo I, Rojas-Alcayaga G, Cifuentes V: Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry. Biochem Genet. 2011, 49: 104-121. 10.1007\/s10528-010-9392-6.","journal-title":"Biochem Genet"},{"issue":"Suppl 1","key":"379_CR7","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1600-0722.2006.00278.x","volume":"114","author":"JW Kim","year":"2006","unstructured":"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.","journal-title":"Eur J Oral Sci"},{"key":"379_CR8","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1159\/000324339","volume":"194","author":"JT Wright","year":"2011","unstructured":"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. 10.1159\/000324339.","journal-title":"Cells Tissues Organs"},{"key":"379_CR9","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/BF00220469","volume":"90","author":"MJ Aldred","year":"1992","unstructured":"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.","journal-title":"Hum Genet"},{"key":"379_CR10","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/S0003-9969(96)00099-4","volume":"42","author":"PM Collier","year":"1997","unstructured":"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. 10.1016\/S0003-9969(96)00099-4.","journal-title":"Arch Oral Biol"},{"key":"379_CR11","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/S0003-9969(01)00111-X","volume":"47","author":"SR Greene","year":"2002","unstructured":"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. 10.1016\/S0003-9969(01)00111-X.","journal-title":"Arch Oral Biol"},{"key":"379_CR12","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/S0003-9969(02)00003-1","volume":"47","author":"PS Hart","year":"2002","unstructured":"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. 10.1016\/S0003-9969(02)00003-1.","journal-title":"Arch Oral Biol"},{"key":"379_CR13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/S0003-9969(99)00106-5","volume":"45","author":"S Hart","year":"2000","unstructured":"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. 10.1016\/S0003-9969(99)00106-5.","journal-title":"Arch Oral Biol"},{"key":"379_CR14","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1177\/154405910208101103","volume":"81","author":"M Kida","year":"2002","unstructured":"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. 10.1177\/154405910208101103.","journal-title":"J Dent Res"},{"key":"379_CR15","first-page":"78","volume":"83","author":"JW Kim","year":"2004","unstructured":"Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK, Feigal RJ, Hu JC: Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res. 2004, 83: 78-383.","journal-title":"J Dent Res"},{"key":"379_CR16","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1177\/00220345000790120901","volume":"79","author":"SA Kindelan","year":"2000","unstructured":"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. 10.1177\/00220345000790120901.","journal-title":"J Dent Res"},{"key":"379_CR17","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0888-7543(91)90187-J","volume":"10","author":"M Lagerstrom","year":"1991","unstructured":"Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U: A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics. 1991, 10: 971-975. 10.1016\/0888-7543(91)90187-J.","journal-title":"Genomics"},{"key":"379_CR18","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/0888-7543(95)80097-6","volume":"26","author":"M Lagerstrom-Fermer","year":"1995","unstructured":"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. 10.1016\/0888-7543(95)80097-6.","journal-title":"Genomics"},{"key":"379_CR19","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1093\/hmg\/3.5.827","volume":"3","author":"NJ Lench","year":"1994","unstructured":"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. 10.1093\/hmg\/3.5.827.","journal-title":"Hum Mol Genet"},{"key":"379_CR20","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/humu.1380050310","volume":"5","author":"NJ Lench","year":"1995","unstructured":"Lench NJ, Winter GB: Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Hum Mutat. 1995, 5: 251-259. 10.1002\/humu.1380050310.","journal-title":"Hum Mutat"},{"key":"379_CR21","doi-asserted-by":"publisher","first-page":"45","DOI":"10.2209\/tdcpublication.42.45","volume":"42","author":"H Sekiguchi","year":"2001","unstructured":"Sekiguchi H, Tanakamaru H, Minaguchi K, Machida Y, Yakushiji M: A case of amelogenesis imperfecta of deciduous and all permanent teeth. Bull Tokyo Dent Coll. 2001, 42: 45-50. 10.2209\/tdcpublication.42.45.","journal-title":"Bull Tokyo Dent Coll"},{"key":"379_CR22","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1177\/0022034509333180","volume":"88","author":"HY Kang","year":"2009","unstructured":"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. 10.1177\/0022034509333180.","journal-title":"J Dent Res"},{"key":"379_CR23","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1016\/j.archoralbio.2006.09.014","volume":"52","author":"SJ Gutierrez","year":"2007","unstructured":"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. 10.1016\/j.archoralbio.2006.09.014.","journal-title":"Arch Oral Biol"},{"key":"379_CR24","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1177\/154405910508400314","volume":"84","author":"JW Kim","year":"2005","unstructured":"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. 10.1177\/154405910508400314.","journal-title":"J Dent Res"},{"key":"379_CR25","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1093\/hmg\/11.9.1069","volume":"11","author":"CK Mardh","year":"2002","unstructured":"Mardh 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. 10.1093\/hmg\/11.9.1069.","journal-title":"Hum Mol Genet"},{"key":"379_CR26","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1177\/154405910508401112","volume":"84","author":"D Ozdemir","year":"2005","unstructured":"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. 10.1177\/154405910508401112.","journal-title":"J Dent Res"},{"key":"379_CR27","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1093\/hmg\/10.16.1673","volume":"10","author":"MH Rajpar","year":"2001","unstructured":"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. 10.1093\/hmg\/10.16.1673.","journal-title":"Hum Mol Genet"},{"key":"379_CR28","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1002\/ajmg.a.30521","volume":"133A","author":"J Dong","year":"2005","unstructured":"Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M: DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A. 2005, 133A: 138-141. 10.1002\/ajmg.a.30521.","journal-title":"Am J Med Genet A"},{"key":"379_CR29","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1159\/000252801","volume":"191","author":"W El-Sayed","year":"2010","unstructured":"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. 10.1159\/000252801.","journal-title":"Cells Tissues Organs"},{"key":"379_CR30","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1399-0004.2008.01112.x","volume":"75","author":"PS Hart","year":"2009","unstructured":"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.","journal-title":"Clin Genet"},{"key":"379_CR31","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1111\/j.1365-2591.2009.01617.x","volume":"42","author":"HK Hyun","year":"2009","unstructured":"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. 10.1111\/j.1365-2591.2009.01617.x.","journal-title":"Int Endod J"},{"key":"379_CR32","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1016\/j.ajhg.2007.09.020","volume":"82","author":"JW Kim","year":"2008","unstructured":"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. 10.1016\/j.ajhg.2007.09.020.","journal-title":"Am J Hum Genet"},{"key":"379_CR33","doi-asserted-by":"publisher","first-page":"E95","DOI":"10.1002\/humu.20789","volume":"29","author":"SK Lee","year":"2008","unstructured":"Lee SK, Hu JC, Bartlett JD, Lee KE, Lin BP, Simmer JP, Kim JW: Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Hum Mutat. 2008, 29: E95-99. 10.1002\/humu.20789.","journal-title":"Hum Mutat"},{"key":"379_CR34","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1177\/0022034509333822","volume":"88","author":"JT Wright","year":"2009","unstructured":"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. 10.1177\/0022034509333822.","journal-title":"J Dent Res"},{"key":"379_CR35","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1136\/jmg.40.12.900","volume":"40","author":"TC Hart","year":"2003","unstructured":"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. 10.1136\/jmg.40.12.900.","journal-title":"J Med Genet"},{"key":"379_CR36","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1177\/154405910508401113","volume":"84","author":"D Ozdemir","year":"2005","unstructured":"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. 10.1177\/154405910508401113.","journal-title":"J Dent Res"},{"key":"379_CR37","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1136\/jmg.2004.024505","volume":"42","author":"JW Kim","year":"2005","unstructured":"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. 10.1136\/jmg.2004.024505.","journal-title":"J Med Genet"},{"key":"379_CR38","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1177\/0022034509352844","volume":"89","author":"SK Lee","year":"2010","unstructured":"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. 10.1177\/0022034509352844.","journal-title":"J Dent Res"},{"key":"379_CR39","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1177\/154405910808700109","volume":"87","author":"P Papagerakis","year":"2008","unstructured":"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. 10.1177\/154405910808700109.","journal-title":"J Dent Res"},{"key":"379_CR40","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1136\/jmg.2003.017657","volume":"41","author":"PS Hart","year":"2004","unstructured":"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. 10.1136\/jmg.2003.017657.","journal-title":"J Med Genet"},{"key":"379_CR41","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/j.ajhg.2009.09.014","volume":"85","author":"W El-Sayed","year":"2009","unstructured":"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. 10.1016\/j.ajhg.2009.09.014.","journal-title":"Am J Hum Genet"},{"key":"379_CR42","first-page":"16","volume":"40","author":"K Ishibashi","year":"1990","unstructured":"Ishibashi K, Iino T, Sekiguchi F: Amelogenesis imperfecta, a new dental mutation in rats. Lab Anim Sci. 1990, 40: 16-20.","journal-title":"Lab Anim Sci"},{"key":"379_CR43","doi-asserted-by":"publisher","first-page":"59","DOI":"10.2152\/jmi.59.59","volume":"59","author":"T Muto","year":"2012","unstructured":"Muto T, Miyoshi K, Horiguchi T, Noma T: Dissection of morphological and metabolic differentiation of ameloblasts via ectopic SP6 expression. J Med Invest. 2012, 59: 59-68. 10.2152\/jmi.59.59.","journal-title":"J Med Invest"},{"key":"379_CR44","doi-asserted-by":"publisher","first-page":"87","DOI":"10.2152\/jmi.55.87","volume":"55","author":"I Ruspita","year":"2008","unstructured":"Ruspita I, Miyoshi K, Muto T, Abe K, Horiguchi T, Noma T: Sp6 downregulation of follistatin gene expression in ameloblasts. J Med Invest. 2008, 55: 87-98. 10.2152\/jmi.55.87.","journal-title":"J Med Invest"},{"key":"379_CR45","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1016\/0003-9969(74)90093-4","volume":"19","author":"CE Smith","year":"1974","unstructured":"Smith CE: A method for preparing longitudinal semi-thin Epon sections of entire rat incisors. Arch Oral Biol. 1974, 19: 1045-1048. 10.1016\/0003-9969(74)90093-4.","journal-title":"Arch Oral Biol"},{"key":"379_CR46","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1002\/ar.1091790403","volume":"179","author":"H Warshawsky","year":"1974","unstructured":"Warshawsky H, Smith CE: Morphological classification of rat incisor ameloblasts. Anat Rec. 1974, 179: 423-446. 10.1002\/ar.1091790403.","journal-title":"Anat Rec"},{"key":"379_CR47","first-page":"1621","volume":"25","author":"L Jimenez-Rojo","year":"2010","unstructured":"Jimenez-Rojo L, Ibarretxe G, Aurrekoetxea M, de Vega S, Nakamura T, Yamada Y, Unda F: Epiprofin\/Sp6: a new player in the regulation of tooth development. Histol Histopathol. 2010, 25: 1621-1630.","journal-title":"Histol Histopathol"},{"key":"379_CR48","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1074\/jbc.M307502200","volume":"279","author":"T Nakamura","year":"2004","unstructured":"Nakamura T, Unda F, de-Vega S, Vilaxa A, Fukumoto S, Yamada KM Yamada Y: The Kruppel-like factor epiprofin is expressed by epithelium of developing teeth, hair follicles, and limb buds and promotes cell proliferation. J Biol Chem. 2004, 279: 626-634.","journal-title":"J Biol Chem"},{"key":"379_CR49","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1016\/j.ygeno.2005.01.005","volume":"85","author":"G Suske","year":"2005","unstructured":"Suske G, Bruford E, Philipsen S: Mammalian SP\/KLF transcription factors: bring in the family. Genomics. 2005, 85: 551-556. 10.1016\/j.ygeno.2005.01.005.","journal-title":"Genomics"},{"key":"379_CR50","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1002\/dvdy.21355","volume":"237","author":"V Hertveldt","year":"2008","unstructured":"Hertveldt V, Louryan S, van Reeth T, Dreze P, van Vooren P, Szpirer J, Szpirer C: The development of several organs and appendages is impaired in mice lacking Sp6. Dev Dyn. 2008, 237: 883-892. 10.1002\/dvdy.21355.","journal-title":"Dev Dyn"},{"key":"379_CR51","doi-asserted-by":"publisher","first-page":"4825","DOI":"10.1074\/jbc.M708388200","volume":"283","author":"T Nakamura","year":"2008","unstructured":"Nakamura T, de Vega S, Fukumoto S, Jimenez L, Unda F, Yamada Y: Transcription factor epiprofin is essential for tooth morphogenesis by regulating epithelial cell fate and tooth number. J Biol Chem. 2008, 283: 4825-4833.","journal-title":"J Biol Chem"},{"key":"379_CR52","doi-asserted-by":"crossref","unstructured":"Utami TW, Miyoshi K, Hagita H, Yanuaryska RD, Horiguchi T, Noma T: Possible linkage of SP6 transcriptional activity with amelogenesis by protein stabilization. J Biomed Biotechnol. 2011, Article ID 320987, 10.1155\/2011\/320987.","DOI":"10.1155\/2011\/320987"},{"key":"379_CR53","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/S0378-1119(96)00706-8","volume":"187","author":"LM Quinn","year":"1997","unstructured":"Quinn LM, Johnson BV, Nicholl J, Sutherland GR, Kalionis B: Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4. Gene. 1997, 187: 55-61. 10.1016\/S0378-1119(96)00706-8.","journal-title":"Gene"},{"key":"379_CR54","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1111\/j.1432-0436.1993.tb01599.x","volume":"54","author":"TA Mitsiadis","year":"1993","unstructured":"Mitsiadis TA, Couble P, Dicou E, Rudkin BB, Magloire H: Patterns of nerve growth factor (NGF), proNGF, and p75 NGF receptor expression in the rat incisor: comparison with expression in the molar. Differentiation. 1993, 54: 161-175. 10.1111\/j.1432-0436.1993.tb01599.x.","journal-title":"Differentiation"},{"key":"379_CR55","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/S0022-5320(70)90063-8","volume":"30","author":"E Kallenbach","year":"1970","unstructured":"Kallenbach E: Fine structure of rat incisor enamel organ during late pigmentation and regression stages. J Ultrastruct Res. 1970, 30: 38-63. 10.1016\/S0022-5320(70)90063-8.","journal-title":"J Ultrastruct Res"},{"key":"379_CR56","unstructured":"Utami TW, Miyoshi K, Hagita H, Yanuaryska RD, Horiguchi T, Noma T: Dynamic Changes of Sp6 Transgene Expression in Dental Epithelial Cells during Long-term Culture. Indones J Dent Res, . in press."},{"key":"379_CR57","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.ydbio.2009.11.007","volume":"337","author":"A Talamillo","year":"2009","unstructured":"Talamillo A, Delgado I, Nakamura T, de-Vega S, Yoshitomi Y, Unda F, Birchmeier W, Yamada Y, Ros MA: Role of Epiprofin, a zinc-finger transcription factor, in limb development. Dev Biol. 2009, 337: 363-374.","journal-title":"Dev Biol"},{"key":"379_CR58","first-page":"8","volume":"39","author":"T Terashima","year":"2003","unstructured":"Terashima T, Baba O, Takano Y, Ishibashi K, Oida S: Analysis of enamel formation in mutant rats with hypoplastic type of amelogenesis imperfeta. Dent Jpn. 2003, 39: 8-14.","journal-title":"Dent Jpn"},{"key":"379_CR59","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.ajhg.2010.05.016","volume":"87","author":"P Lapunzina","year":"2010","unstructured":"Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL: Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010, 87: 110-114. 10.1016\/j.ajhg.2010.05.016.","journal-title":"Am J Hum Genet"},{"key":"379_CR60","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/S0092-8674(01)00622-5","volume":"108","author":"K Nakashima","year":"2002","unstructured":"Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, de Behringer RR, Crombrugghe B: The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell. 2002, 108: 17-29. 10.1016\/S0092-8674(01)00622-5.","journal-title":"Cell"},{"key":"379_CR61","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1146\/annurev.biophys.29.1.183","volume":"29","author":"SA Wolfe","year":"2000","unstructured":"Wolfe SA, Nekludova L, Pabo CO: DNA recognition by Cys2His2 zinc finger proteins. Annu Rev Biophys Biomol Struct. 2000, 29: 183-212. 10.1146\/annurev.biophys.29.1.183.","journal-title":"Annu Rev Biophys Biomol Struct"},{"key":"379_CR62","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.bbrc.2010.10.036","volume":"403","author":"T Ito","year":"2010","unstructured":"Ito T, Kitamura H, Uwatoko C, Azumano M, Itoh K, Kuwahara J: Interaction of Sp1 zinc finger with transport factor in the nuclear localization of transcription factor Sp1. Biochem Biophys Res Commun. 2010, 403: 161-166. 10.1016\/j.bbrc.2010.10.036.","journal-title":"Biochem Biophys Res Commun"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-7-34.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T19:25:59Z","timestamp":1630524359000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-7-34"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,7]]},"references-count":62,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["379"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-7-34","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,7]]},"assertion":[{"value":"18 February 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"34"}}