Amelogenesis imperfecta

Definition:

Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease.

References:

[1]. C J Witkop Jr, et al. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988 Nov;17(9-10):547-53. [Content Brief]

[2]. Claire E L Smith, et al. Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. [Content Brief]

[3]. David A Parry, et al. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet. 2013 Feb 7;92(2):307-12. [Content Brief]

[4]. David A Parry, et al. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet. 2012 Sep 7;91(3):565-71. [Content Brief]

[5]. David A Parry, et al. Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. Am J Hum Genet. 2016 Oct 6;99(4):984-990. [Content Brief]

[6]. Emin Murat Canger, et al. Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report. Braz Dent J. 2010;21(2):170-4. [Content Brief]

[7]. Figen Seymen, et al. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205. [Content Brief]

[8]. G Stephanopoulos, et al. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005 Dec;84(12):1117-26. [Content Brief]

[9]. J W Kim, et al. LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. J Dent Res. 2013 Oct;92(10):899-904. [Content Brief]

[10]. James A Poulter, et al. A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet. 2014 Apr 15;23(8):2189-97. [Content Brief]

[11]. James A Poulter, et al. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2014 Oct 15;23(20):5317-24. [Content Brief]

[12]. Jung-Wook Kim, et al. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet. 2008 Feb;82(2):489-94. [Content Brief]

[13]. Jung-Wook Kim, et al. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383. [Content Brief]

[14]. Peter J M Crawford, et al. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007 Apr 4;2:17. [Content Brief]

[15]. Sang Hyun Cho, et al. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat. 2012 Jan;33(1):91-4. [Content Brief]

[16]. Walid El-Sayed, et al. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet. 2009 Nov;85(5):699-705. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.