Amelogenesis Imperfecta

A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.

Networked: 215 relevant articles (0 outcomes, 17 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mandibulofacial Dysostosis (Treacher Collins Syndrome)
2.	Tooth Diseases
3.	Stomatognathic Diseases (Dental Disease)
4.	Craniosynostoses (Craniosynostosis)
5.	Retinitis Pigmentosa (Pigmentary Retinopathy)

Experts

1.	Wright, J T: 12 articles (04/2007 - 01/2000)
2.	Simmer, James P: 8 articles (02/2015 - 05/2002)
3.	Simmer, J P: 8 articles (07/2010 - 04/2000)
4.	Hu, Jan C-C: 7 articles (02/2015 - 05/2002)
5.	Gibson, Carolyn W: 7 articles (09/2014 - 01/2005)
6.	Bartlett, John D: 7 articles (09/2014 - 12/2002)
7.	Wright, J Timothy: 6 articles (09/2014 - 01/2005)
8.	Hart, T C: 6 articles (07/2004 - 04/2000)
9.	Mighell, Alan J: 5 articles (10/2015 - 02/2009)
10.	Kirkham, Jennifer: 5 articles (05/2014 - 02/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Amelogenesis Imperfecta:

1.	AmelogeninIBA 09/01/2014 - "The purposes of this study were to: (1) investigate adhesion through shear bond strength (SBS) testing of a resin composite bonded with a self-etching bonding system (SEB) to amelogenesis imperfecta (AI)-affected deproteinized mouse enamel or dentin; and (2) compare wild-type (WT), amelogenin null (AmelxKO), and matrix metalloproteinase-20 null (Mmp20KO) enamel and dentin phenotypes using micro-CT and nanoindentation. " 01/01/2014 - "The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). " 03/01/2002 - "Amelogenins, the major protein component of the mineralizing enamel extracellular matrix, are critical for normal enamel formation as documented in the linkage studies of a group of inherited disorders, with defective enamel formation, called Amelogenesis imperfecta. " 11/01/1998 - "In this study, we have determined the nucleotide sequences of regions of the intron 1 and intron 2 of the X and Y human amelogenin genes (AMGX, AMGY) for the first time, and established a polymerase chain reaction (PCR) protocol to amplify six exons of AMGX and AMGY for the diagnosis of amelogenesis imperfecta, because previous studies have shown that some of the AI patients have such mutations. " 03/01/1995 - "In this study we describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. "
2.	tuftelin (enamelin)IBA 07/01/2012 - "In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). " 10/01/2000 - "The purpose of this study was to determine the human chromosomal localization of enamelin to establish an association with various forms of amelogenesis imperfecta. " 01/01/2014 - "Mutations in the human enamelin gene cause autosomal dominant hypoplastic amelogenesis imperfecta in which the affected enamel is thin or absent. " 07/01/2012 - "Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta." 02/01/2011 - "Enamelin/ameloblastin gene polymorphisms in autosomal amelogenesis imperfecta among Syrian families."
3.	Proteins (Proteins, Gene)IBA 01/01/2013 - "These proteins and their respective null mice and human mutations are also evaluated to shed light on the mechanisms that cause nonsyndromic enamel malformations termed amelogenesis imperfecta. " 10/01/2010 - "Hypothesizing abnormality akin to amelogenesis imperfecta, we profiled proteins in hypomineralized enamel from human permanent first molars using a biochemical approach. " 08/01/2008 - "Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). " 12/01/2005 - "This paper focuses mainly on the candidate genes involved in amelogenesis imperfecta and the proteins derived from them, and reviews current knowledge on their structure, localization within the tissue, and correlation with the various types of this disorder." 12/01/2005 - "Some of the genes encoding specific enamel proteins have been indicated as candidate genes for amelogenesis imperfecta. "
4.	Sodium Hypochlorite (Clorox)IBA 05/01/2006 - "The aim of this study was to evaluate the effect of the treatment of sodium hypochlorite (NaOCl) after acid conditioning of the enamel and dentin of the primary teeth affected with hypocalcified amelogenesis imperfecta (HCAI) on the shear bond strength of the composite material. " 09/01/2014 - "The nanohardness of knockout enamel was significantly lower than WT, while knockout dentin nanohardness was not different from WT. Using animal amelogenesis imperfecta models, enamel sodium hypochlorite deproteinization of hypoplastic and hypoplastic-hypomaturation enamel did not increase shear bond strength, while removal of the defective enamel allowed optimal dentin bonding." 11/01/1994 - "Enamel pretreatment with sodium hypochlorite to enhance bonding in hypocalcified amelogenesis imperfecta: case report and SEM analysis."
5.	Calcium Carbonate (Limestone)FDA Link 09/01/2007 - "A recent study provided genetic and morphological evidence that rat autosomal-recessive mutation, whitish chalk-like teeth (wct), induced tooth enamel defects resembling those of human amelogenesis imperfecta (AI). " 10/01/2007 - "Our previous findings have demonstrated that the rat autosomal-recessive mutation, whitish chalk-like teeth (wct), induces enamel defects resembling those of human amelogenesis imperfecta (AI) in continuously growing incisor teeth. " 12/01/2005 - "A novel autosomal-recessive mutation, whitish chalk-like teeth, resembling amelogenesis imperfecta, maps to rat chromosome 14 corresponding to human 4q21."
6.	Codon (Codons)IBA 02/01/2011 - "  This study was undertaken to investigate whether a single G deletion within a series of seven G residues (codon 196) at the exon 9-intron 9 boundary of the enamelin gene ENAM and a tri-nucleotide deletion at codon 180 in exon 7 (GGA vs deletion) of ameloblastin gene AMBN could have a role in autosomal amelogenesis imperfecta among affected Syrian families. " 01/01/2000 - "Mutational analysis reveals a C-A mutation in exon 6 at codon 41 of the X-chromosomal amelogenin gene, resulting in a pro-thr change in all individuals having the amelogenesis imperfecta phenotype. "
7.	Transcription Factors (Transcription Factor)IBA 01/01/2012 - "This study is the first to define an essential role for the FoxO family of transcription factors in tooth development and provides a new molecular entry point which will allow researchers to delineate novel genetic pathways regulating the process of biomineralization which may also have significance for studies of human tooth diseases such as amelogenesis imperfecta."
8.	RNA (Ribonucleic Acid)IBA 01/01/1995 - "This minireview highlights selected examples of scientific progress derived from the following experimental strategies: (i) molecular approaches to the organization of the mouse and human chromosomes, with the mapping of specific gene sequences linked to human diseases (e.g., amelogenesis imperfecta, Boston type craniosynostosis, Rieger's syndrome, Treacher Collins syndrome); (ii) reverse genetic approaches for studies of gene function; (iii) homologous recombinations and the advances from "knock-out" transgenic mouse models for human craniofacial-oral-dental diseases; (iv) mutational analyses of congenital craniofacial-oral-dental dysmorphogenesis; (v) structural biology studies using computer-assisted molecular modeling for protein-protein, protein-nucleic acid and protein-inorganic interactions; (vi) computer modeling of genetic paradigms; and (vii) a cluster of newer methodologies including computer-assisted morphometry, new microinjection techniques, new cell membrane and intracellular dyes, and a number of new RNA and DNA viral constructs for the delivery of genes to enhance the resolution of cell fate maps, cell lineage studies and gene therapy approaches to human diseases."
9.	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 08/01/2007 - "We previously isolated a mouse strain with an amelogenesis imperfecta phenotype (ATE1 mice) from a dominant ethylnitrosourea screen and mapped the disease-causing defect to a 9-cM region of mouse chromosome 5. In the current study, we tested the hypothesis that there is a mutation in enamelin (ENAM) or ameloblastin (AMBN), both of which are located within the linkage region, by sequencing these two candidate genes. "
10.	Coloring Agents (Dyes)IBA 01/01/1995 - "This minireview highlights selected examples of scientific progress derived from the following experimental strategies: (i) molecular approaches to the organization of the mouse and human chromosomes, with the mapping of specific gene sequences linked to human diseases (e.g., amelogenesis imperfecta, Boston type craniosynostosis, Rieger's syndrome, Treacher Collins syndrome); (ii) reverse genetic approaches for studies of gene function; (iii) homologous recombinations and the advances from "knock-out" transgenic mouse models for human craniofacial-oral-dental diseases; (iv) mutational analyses of congenital craniofacial-oral-dental dysmorphogenesis; (v) structural biology studies using computer-assisted molecular modeling for protein-protein, protein-nucleic acid and protein-inorganic interactions; (vi) computer modeling of genetic paradigms; and (vii) a cluster of newer methodologies including computer-assisted morphometry, new microinjection techniques, new cell membrane and intracellular dyes, and a number of new RNA and DNA viral constructs for the delivery of genes to enhance the resolution of cell fate maps, cell lineage studies and gene therapy approaches to human diseases."

Therapies and Procedures

1.	Crowns (Crown, Dental) 06/01/2011 - "The aim of this study was to present the clinical report of a 16-year-old patient with severely compromised esthetics as a result of amelogenesis imperfecta of the hypocalcified type who was rehabilitated with composite resin and ceramic crowns." 01/01/2013 - "Patients suffering from loss of tooth structure (dental erosion, Amelogenesis imperfecta) or even young patients could benefit from minimally-invasive crowns. " 02/01/2009 - "A total of 32 permanent teeth in 4 healthy children with hypocalcified amelogenesis imperfecta were restored with strip crowns and composite resin. " 02/01/2009 - "To determine the effect of deproteinization on the success of composite crowns in hypocalcified amelogenesis imperfecta-affected permanent teeth in intraoral conditions. " 08/01/2007 - "This article presents a patient with amelogenesis imperfecta rehabilitated with all-ceramic crowns following surgical and orthodontic intervention. "
2.	Overlay Denture 03/01/2012 - "The aim of this study was oral rehabilitation of 17-year old patient with amelogenesis imperfecta using removable overlay denture in order to satisfy her esthetic and functional expectations and enhance her self-image. " 03/01/2012 - "Oral rehabilitation of a patient with amelogenesis imperfecta using removable overlay denture: a clinical report." 01/01/2009 - "Overdenture as a restorative option for hypocalcified-hypoplastic amelogenesis imperfecta: a case report." 01/01/1985 - "The provision of overdentures for a patient with amelogenesis imperfecta." 10/01/1983 - "Overdenture management of amelogenesis imperfecta."
3.	Prosthodontics 08/01/2014 - "This article describes the surgical and prosthodontic treatment of a patient with severe dysgnathia combined with amelogenesis imperfecta. " 09/01/2012 - "This clinical report describes the prosthodontic treatment of an 18-year-old female diagnosed with amelogenesis imperfecta. " 08/01/2012 - "Prosthodontic management of patients with amelogenesis imperfecta." 01/01/2009 - "The restoration of function and esthetics of a patient with amelogenesis imperfecta using a combination of orthodontic and prosthodontic treatment: a case report." 04/01/2008 - "A 18-year-old female with hypoplastic amelogenesis imperfecta presented for prosthodontic treatment to eliminate tooth sensitivity while enhancing esthetics and restoring masticatory function. "
4.	Mouth Rehabilitation 11/01/2014 - "Interdisciplinary Full Mouth Rehabilitation of a Patient with Amelogenesis Imperfecta: A Case Report with 8 Years Follow-up." 07/01/2014 - "Full mouth rehabilitation of a patient with amelogenesis imperfecta: a case report." 05/01/2013 - "A treatment philosophy of amelogenesis imperfecta is illustrated by means of a case report of a 14-year-old boy who consulted us for a full mouth rehabilitation. " 09/01/2012 - "Full mouth rehabilitation of hypomaturation type amelogenesis imperfecta: A clinical report." 01/01/2014 - "Amelogenesis imperfecta with multiple impacted teeth and skeletal class III malocclusion: complete mouth rehabilitation of a young adult."
5.	Orthodontics 05/01/2012 - "Orthodontics in patients with amelogenesis imperfecta can be complicated by commonly occurring dental features in this group as well as patient factors. " 01/01/2010 - "An adult woman with amelogenesis imperfecta, a skeletal Class III relationship, long face syndrome, and a severe anterior open bite received interdisciplinary treatment (orthodontics, orthognathic surgery, and prosthodontics). " 01/01/2001 - "An adolescent female who presented amelogenesis imperfecta with severe anterior open bite, long face, facial asymmetry, high angle, and Class III skeletal pattern was treated with an interdisciplinary (orthodontics, orthognathic surgery, and prosthodontics) treatment approach. "