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.

Also Known As:

Networked: 276 relevant articles (1 outcomes, 28 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Tooth Diseases
2.	Stomatognathic Diseases (Dental Disease)
3.	Mandibulofacial Dysostosis (Treacher Collins Syndrome)
4.	Craniosynostoses (Craniosynostosis)
5.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Simmer, James P: 16 articles (04/2021 - 05/2002)
2.	Hu, Jan C-C: 15 articles (04/2021 - 05/2002)
3.	Wright, J T: 13 articles (04/2009 - 01/2000)
4.	Bartlett, John D: 10 articles (10/2019 - 12/2002)
5.	Mighell, Alan J: 9 articles (01/2020 - 09/2012)
6.	Simmer, J P: 9 articles (07/2010 - 04/2000)
7.	Brookes, Steven J: 8 articles (01/2020 - 04/2010)
8.	Inglehearn, Chris F: 8 articles (01/2020 - 09/2012)
9.	Poulter, James A: 8 articles (01/2020 - 09/2012)
10.	Gibson, Carolyn W: 8 articles (09/2014 - 01/2005)

Drugs and Biologics

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

1.	AmelogeninIBA 01/01/2015 - "Improved protocol to purify untagged amelogenin - Application to murine amelogenin containing the equivalent P70→T point mutation observed in human amelogenesis imperfecta." 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). " 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. " 10/01/2023 - "Amelogenin plays a crucial role in tooth enamel formation, and mutations on X-chromosomal amelogenin cause X-linked amelogenesis imperfecta (AI). "
2.	Proteins (Proteins, Gene)FDA Link 04/01/1998 - "In this study, soluble protein fractions of the enamel from three patients with hypocalcified amelogenesis imperfecta were examined through the use of immunochemical and biochemical techniques. " 08/01/1993 - "The purpose of this study was to characterize the enamel ultrastructure and enamel protein in a kindred affected by X-linked amelogenesis imperfecta. " 01/01/2022 - "Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization." 01/01/2020 - "A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta." 01/01/2017 - "Amelogenesis Imperfecta; Genes, Proteins, and Pathways."
3.	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. " 01/01/2017 - "Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress." 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."
4.	Composite ResinsIBA 07/15/2019 - "Purpose: The purpose of this study was to evaluate the effect of different dentin deproteinization treatments on the microtensile bond strength (μTBS) of composite resin to primary dentin affected by hypocalcified amelogenesis imperfecta (AI). " 03/01/2006 - "This study discusses the importance of preventive procedures and describes the clinical procedures of aesthetic and functional rehabilitation of a Brazilian adolescent with autosomal dominant amelogenesis imperfecta (ADAI) involving the use of direct and indirect resin composite restorations." 01/01/2019 - "Esthetic Rehabilitation with Direct Composite Resin in a Patient with Amelogenesis Imperfecta: A 2-Year Follow-Up." 11/01/2011 - "The aim of this article is to provide an overview of amelogenesis imperfecta, including a detailed case report for an aesthetically concerned adult patient presenting in general practice with a Witkop's Type IA defect managed with the placement of direct, layered resin composite veneers. " 11/01/1994 - "Bonding composite resin to enamel of teeth affected by amelogenesis imperfecta (AI) is often problematic, especially in cases with poorly mineralized, friable enamel. "
5.	AcidsIBA 01/01/1998 - "The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study." 05/01/2008 - "Effect of acid etching time on bond strength of an etch-and-rinse adhesive to primary tooth dentine affected by amelogenesis imperfecta." 01/01/2006 - "Acid-etching effects in hypomineralized amelogenesis imperfecta. " 01/01/1998 - "Successful bonding of resins to teeth affected by amelogenesis imperfecta (AI) may be highly dependent on how the enamel responds to acid etching. " 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. "
6.	Sodium Hypochlorite (Clorox)IBA 01/01/2019 - "Etching Patterns of Sodium Hypochlorite Pretreated Hypocalcified Amelogenesis Imperfecta Primary Molars: SEM Study." 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." 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. "
7.	MicroRNAs (MicroRNA)IBA 01/01/2022 - "Thus, our study shows that miR-16-5p and miR-27b-3p are candidate pathogenic miRNAs for amelogenesis imperfecta." 02/23/2021 - "Taken together, our study suggests a potential role for miRNAs in amelogenesis imperfecta." 02/23/2021 - "Furthermore, advanced bioinformatic analyses for microRNAs (miRNAs), which are short non-coding RNAs that suppress target genes at the post-transcriptional level, predicted 37 candidates that may be involved in amelogenesis imperfecta. " 10/01/2023 - "Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4."
8.	MineralsIBA 01/01/2022 - "An in vitro study was carried out with 128 human teeth slices (64 healthy and 64 with Amelogenesis imperfecta) on which an initial Raman spectroscopy was performed followed by Raman spectroscopies at 0, 24, 48, and 72 h to determine possible remineralization by observing mineral increase or decrease as a result of P. " 11/01/2018 - "To delineate orodental features, dental mineral density, genetic aetiology and cellular characteristics associated with amelogenesis imperfecta (AI). " 04/01/2018 - "To explore the mineral features of dentin and cementum in hypoplastic Amelogenesis imperfecta AI teeth. " 04/01/2018 - "Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta." 01/01/2013 - "The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. "
9.	Amino AcidsFDA Link 01/01/2005 - "The amino acids located at important sites and the residues known to lead to amelogenesis imperfecta when substituted were present in all sequences examined. " 08/01/1993 - "This study indicates that although the enamel in both the male and female with X-linked amelogenesis imperfecta displayed marked structural abnormalities the enamel protein was similar in quantity and amino acid composition for normal and X-linked amelogenesis imperfecta (female) enamel.(ABSTRACT TRUNCATED AT 250 WORDS)" 07/01/2000 - "Mouse amelogenins lacking either amino- or carboxy-terminal domains believed to be involved in self-assembly and amelogenins having single or double amino acid mutations identical to those found in cases of amelogenesis imperfecta were analyzed. " 02/01/1997 - "The unique amino acid compositions and distinct enamel protein species seen by electrophoresis and Western blot analyses suggest that different developmental processes might be involved in hypomaturation and hypocalcified amelogenesis imperfecta." 02/01/1997 - "Hypocalcified amelogenesis imperfecta enamel had an increased tyrosine content while the other amino acids were generally similar in amount to normal enamel. "
10.	Transcription Factors (Transcription Factor)IBA 10/01/2021 - "Muscle segment homeobox 2 (MSX2), a transcription factor, is recently reported to be closely associated with the amelogenesis imperfecta (AI). " 12/01/2018 - "DLX3 is essential for tooth enamel development and is so far the only transcription factor known to be mutated in a syndromic form of amelogenesis imperfecta. " 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."

Therapies and Procedures

1.	Crowns (Crown, Dental) 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. " 08/01/2007 - "Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report." 01/01/1995 - "The ITN care of amelogenesis imperfecta (first dentition) with composite polymeric materials as well as steel crowns--a case report]." 04/01/1975 - "The oral findings, consisting of disturbances in the structure of the enamel in both deciduous and permanent teeth, resemble those of amelogenesis imperfecta, Type 1. Preformed crowns are recommended as the initial treatment, in order to avoid loss of vertical height. "
2.	Therapeutics 01/01/2016 - "Amelogenesis Imperfecta and Early Restorative Crown Therapy: An Interview Study with Adolescents and Young Adults on Their Experiences." 10/12/2023 - "Treatment of acute cases of amelogenesis imperfecta is challenging in children due to the absence of a consensus statement on therapy recommendations. " 01/01/2018 - "Ceramic crown therapy can be recommended for adolescents and young adults with severe forms of amelogenesis imperfecta." 01/01/2018 - "Crown therapy in young individuals with amelogenesis imperfecta: Long term follow-up of a randomized controlled trial." 09/01/2016 - "When treating patients suffering from amelogenesis imperfecta, a comprehensive therapy of almost every dental discipline has to be considered. "
3.	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." 05/01/2009 - "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."
4.	Mouth Rehabilitation 05/01/2022 - "Full Mouth Rehabilitation Using the Twin Stage Procedure in a Patient with Amelogenesis Imperfecta: A Case Report." 04/01/2022 - "Full-mouth rehabilitation choices depending on amelogenesis imperfecta's type: A familial case report." 05/01/2019 - "Full-mouth Rehabilitation of Hypocalcified-type Amelogenesis Imperfecta With Chairside Computer-aided Design and Computer-aided Manufacturing: A Case Report." 01/01/2018 - "Diagnosis, Treatment Planning, and Full-mouth Rehabilitation in a Case of Amelogenesis Imperfecta." 11/01/2014 - "Interdisciplinary Full Mouth Rehabilitation of a Patient with Amelogenesis Imperfecta: A Case Report with 8 Years Follow-up."
5.	Vertical Dimension (Occlusion Vertical Dimension) 08/01/2022 - "Managing vertical dimensions in patients with Amelogenesis Imperfecta: A case report." 01/01/2019 - "An adult patient with amelogenesis imperfecta with severe changes in tooth color and reduction of occlusal vertical dimension sought dental treatment. " 09/01/2016 - "Chairside treatment of amelogenesis imperfecta, including establishment of a new vertical dimension with resin nanoceramic and intraoral scanning." 11/01/2015 - "The complete dental rehabilitation of patients with a vertical dimension loss (VDL) caused by structural enamel deficits associated with amelogenesis imperfecta (AI) represents a difficult challenge for restorative teams. " 04/01/2014 - "Esthetic and functional rehabilitation of mutilated dentition and loss of vertical dimension due to amelogenesis imperfecta."