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Topic: Amelogenesis


  
  Amelogenesis imperfecta - Genetics Home Reference
Mutations in the AMELX, ENAM, and MMP20 genes cause amelogenesis imperfecta.
Amelogenesis imperfecta is also inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene.
amelogenesis ; autosomal ; autosomal dominant ; autosomal recessive ; calcium ; cell ; chromosome ; congenital ; enamel ; gene ; hypoplasia ; incidence ; inheritance ; inheritance pattern ; mutation ; new mutation ; pattern of inheritance ; protein ; recessive ; sex chromosomes
ghr.nlm.nih.gov /condition=amelogenesisimperfecta   (751 words)

  
  CIGNA - Amelogenesis Imperfecta
Amelogenesis imperfecta may be inherited as an X-linked, autosomal dominant, or autosomal recessive genetic trait, depending on the type.
Amelogenesis imperfecta is characterized by defective or missing tooth enamel.
Amelogenesis imperfecta: a classification and catlogue for the 21st century.
www.cigna.com /healthinfo/nord501.html   (2096 words)

  
  Amelogenesis imperfecta
Amelogenesis imperfecta is when a person's teeth are covered with thin, malformed enamel.
Amelogenesis imperfecta is an inherited condition that is transmitted as a dominant trait.
It causes the enamel of the tooth to be soft and thin.
www.stv.org /adam/encyclopedia/ency/article/001578.htm   (153 words)

  
 AMELX - amelogenin (amelogenesis imperfecta 1, X-linked) - Genetics Home Reference
amelogenesis imperfecta - caused by mutations in the AMELX gene
At least 15 mutations in the AMELX gene have been identified in people with X-linked forms of amelogenesis imperfecta.
amelogenesis ; bone marrow ; cell ; chromosome ; enamel ; gene ; hypoplasia ; mineral ; mutation ; protein ; sex chromosomes ; symptom ; tissue
ghr.nlm.nih.gov /gene=amelx   (737 words)

  
 Department of Odontology
amelogenesis imperfecta, are characterized by clinical and genetic heterogeneity.
New cases with amelogenesis imperfecta are continuously diagnosed and included in clinical, histological and genetic examinations.
Bäckman B and Holm A-K. Amelogenesis imperfecta - prevalence and incidence in a northern Swedish county.
www.odont.umu.se /forskning/backman2_proj_eng.html   (315 words)

  
 Amelogenesis Imperfecta
Amelogenesis Imperfecta is a rare inherited disorder characterized by brown discoloration of the teeth, resulting from a lack calcium (hypocalcification) or underdevelopment (hypoplasia) of the hard outer covering of teeth (enamel).
Individuals with Amelogenesis Imperfecta may be prone to early tooth loss and/or disease of the structures that surround and support the teeth (periodontal disease).
Amelogenesis Imperfecta may be inherited as an X-linked, autosomal dominant, or autosomal recessive genetic trait, depending on the form present.
www.webmd.com /hw/raising_a_family/nord501.asp?printing=true   (416 words)

  
 Hypomaturation amelogenesis imperfecta
Amelogenesis imperfecta (AI) is a heterogeneous genetic disorder which affects the dental enamel.
The genetic origin of the autosomal forms is still unknown, although the cause of X-linked amelogenesis imperfecta is definitely related to defects in the amelogenin gene, which is the principal protein related to the formation of human dental enamel (Line and Trevilato, 1996).
The human amelogenin gene is in the distal region of the p 22.1 ® p 22.3 short arm of the X chromosome and in the pericentromeric region of the Y chromosome.
www.forp.usp.br /bdj/bdj10(2)/t08102/t08102.html   (1843 words)

  
 Genes and Related Proteins Involved in Amelogenesis Imperfecta -- Stephanopoulos et al. 84 (12): 1117 -- Journal of ...
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.
Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta.
A new mutation in the amelogenin gene causes X-linked amelogenesis imperfecta (abstract).
jdr.iadrjournals.org /cgi/content/full/84/12/1117   (6881 words)

  
 Amelogenesis Imperfecta - Wikipedia, the free encyclopedia
Amelogenesis Imperfecta is an inherited condition that presents abnormal formation of the enamel or external layer of teeth.
Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it.
A.I. is due to the malfunction of the proteins in the enamel: ameloblastin, enamelin, tuftelin and amelogenin.
en.wikipedia.org /wiki/Ameleogenesis_imperfecta   (170 words)

  
 GENETIC DISORDERS - Amelogenesis Imperfecta
This condition causes teeth to be unusually small, discoloured, pitted or grooved, and prone to rapid wear and breakage.
Researchers are looking for mutations in other genes that may also cause amelogenesis imperfecta.
Other cases of this condition result from new gene mutations and occur in people with no history of the disorder in their family.
www.medic8.com /genetics/amelogenesis-imperfecta.htm   (536 words)

  
 Amelogenesis imperfecta; Baltimore, Maryland MD
Amelogenesis imperfecta is when a person's teeth are covered with thin, malformed enamel.
Amelogenesis imperfecta is an inherited condition that is transmitted as a dominant trait.
It causes the enamel of the tooth to be soft and thin.
www.harborhospital.org /1857.cfm   (224 words)

  
 Abstract Archvive
Amelogenesis imperfecta is a rare dental disease and presents a major challenge to the dentist.
With the tremendous advances in the field of esthetic dentistry, espcially in bonding to dentin, it is today possible to restore function and esthetics to an acceptable level.
A case of amelogenesis imperfecta, complicated by a malocclusion, is presented.
www.quintpub.com /journals/archive_display_abstract.php3?journalArt=1520   (108 words)

  
 AIH2 - amelogenesis imperfecta 2, hypocalcification (autosomal dominant)   (Site not responding. Last check: 2007-09-14)
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21.
Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q.
These synonyms are used for gene AIH2 (amelogenesis imperfecta 2, hypocalcification (autosomal dominant)): ADAI, amelogenesis imperfecta 2, hypoplastic, local (autosomal dominant).
www.ihop-net.org /UniPub/iHOP/gi/86333.html   (168 words)

  
 MedlinePlus Medical Encyclopedia: Amelogenesis imperfecta
Amelogenesis imperfecta is when a person's teeth are covered with thin, malformed enamel.
Amelogenesis imperfecta is an inherited condition that is transmitted as a dominant trait.
It causes the enamel of the tooth to be soft and thin.
www.nlm.nih.gov /medlineplus/ency/article/001578.htm   (284 words)

  
 Developmental Defects of the Teeth   (Site not responding. Last check: 2007-09-14)
Backman B, Holm A. Amelogenesis Imperfecta: prevalence and incidence in a Northern Swedish County.
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.
SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta.
www.dent.unc.edu /research/defects/references.cfm   (1078 words)

  
 A. Imperfecta
Mutations in the genes encoding enamel proteins lead to amelogenesis imperfecta, a collection of inherited diseases having enamel malformations as the predominant phenotype.
Defects in the amelogenin gene cause X-linked amelogenesis imperfecta, and genes encoding other enamel proteins are candidates for autosomal forms.
A retrospective study of 32 children (mean age 10.3 years) attending the Children's Department, Eastman Dental Hospital with enamel opacities resembling dental fluorosis in the majority showed that these changes were probably genetically determined and had a close association with taurodontism of permanent molar teeth.
www.bruha.com /pfpc/html/a__imperfecta.html   (332 words)

  
 What Could This Be?
Amelogenesis imperfecta (AI) is a hereditary disease of enamel formation affecting both primary and permanent dentitions.
There are three forms of amelogenesis imperfecta: hypoplastic, hypocalcified and hypomaturation.
The clinical appearance of teeth in various forms of amelogenesis imperfecta may be different ranging from normal to discolored, soft, and unsightly.
www.dental.mu.edu /oralpath/cases/case50/case50a.htm   (261 words)

  
 Gene expression in tooth: references   (Site not responding. Last check: 2007-09-14)
The present study was undertaken to immunohistochemically (IHC) localize Bax and Bcl-2 in the cells of the enamel organ during amelogenesis in rat molars.
When related to the occurrence of apoptosis during amelogenesis, the relative intensity of expression of Bax and Bcl-2 changed in a pattern consistent with that observed in other cell lines.
This indicates that these proteins play essential roles in the process of amelogenesis, as predicted by their proposed mechanisms of action in the control of apoptosis.
bite-it.helsinki.fi /REF285.HTM   (293 words)

  
 Amelogenesis Imperfecta
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Amelogenesis imperfecta: a classification and catalogue for the 21st century
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary.
www.dentalarticles.com /amelogenesis.html   (297 words)

  
 NIDCR Scientists Create Mouse Model for Dental Defect First "Knockout" Animal Model for Tooth-Specific Gene   (Site not responding. Last check: 2007-09-14)
Amelogenesis imperfecta occurs in approximately 1 in 14,000 individuals in the U.S. It results in malformed, thin enamel that may render teeth susceptible to damage and decay.
Dental enamel is the outermost layer of the teeth and is the hardest substance in the body.
In the future, researchers may be able to use enamel produced in the laboratory to treat patients with amelogenesis imperfecta or those with missing or damaged enamel resulting from dental caries or trauma.
www.nidcr.nih.gov /NewsAndReports/ResearchDigest/February2002A3.htm   (525 words)

  
 Autosomal-dominant Hypoplastic Form of Amelogenesis Imperfecta Caused by an Enamelin Gene Mutation at the Exon-Intron ...
amelogenesis imperfecta • autosomal-dominant • enamelin •; hypoplastic enamel
Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county.
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21.
jdr.iadrjournals.org /cgi/content/full/81/11/738   (2749 words)

  
 Ask an Expert: Amelogenesis imperfecta
His 18 year old daughter`s teeth have begun to fall apart and they were told that his was the cause and that it could also lead to bone problems later on.
Amelogenesis imperfecta is an inherited defect of tooth enamel (the outer surface of teeth) affecting its shape, thickness, color or strength.
There are no "bone problems" associated with amelogenesis imperfecta.
www.netwellness.org /question.cfm/31759.htm   (322 words)

  
 Could we have prevented poor enamel formation?
It sounds as if your daughter has what is termed amelogenesis imperfecta, a defect in the formation of enamel.
The hypomaturation form of amelogenesis imperfecta presents enamel which is soft, cavity-prone, and has a brown-yellow-white mottled appearance.
Some of the types of amelogenesis imperfecta are distinctive on radiographs; therefore, radiographs which will help diagnose problems with the primary dentition and reveal development of the permanent teeth can be helpful in preparation for the permanent dentition.
parenting.ivillage.com /baby/bhealth/0,,3xs8,00.html   (512 words)

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