|
AMELOGENESIS IMPERFECTA, TYPE IF
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
|
26502894 |
2016 |
|
AMELOGENESIS IMPERFECTA, TYPE IF
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
AMELOGENESIS IMPERFECTA, TYPE IF
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Amelogenesis imperfecta local hypoplastic form
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
We characterized a family with hypoplastic amelogenesis imperfecta caused by AMBN compound heterozygous mutations (c.1061T>C; p.Leu354Pro/ c.1340C>T; p.Pro447Leu).
|
31402633 |
2019 |
|
Amelogenesis imperfecta local hypoplastic form
|
0.320 |
GermlineCausalMutation
|
disease |
ORPHANET |
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.
|
24858907 |
2014 |
|
Amelogenesis imperfecta local hypoplastic form
|
0.320 |
Biomarker
|
disease |
BEFREE |
Ameloblastin protein is located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel, and the AMBN gene therefore represents a viable candidate gene for local hypoplastic amelogenesis imperfecta (AI).
|
11330937 |
2001 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Biallelic AMBN defects cause non-syndromic autosomal recessive amelogenesis imperfecta.
|
31402633 |
2019 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.
|
30174330 |
2018 |
|
Amelogenesis Imperfecta
|
0.200 |
Biomarker
|
disease |
BEFREE |
To investigate the role of CLDN16 in tooth formation, we studied a murine model of FHHNC and showed that CLDN16 deficiency led to altered secretory ameloblast TJ structure, lowering of extracellular pH in the forming enamel matrix, and abnormal enamel matrix protein processing, resulting in an enamel phenotype closely resembling human AI.
|
26426912 |
2016 |
|
Amelogenesis Imperfecta
|
0.200 |
Biomarker
|
disease |
BEFREE |
Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta.
|
26223266 |
2015 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Using autozygosity mapping and exome sequencing, we identified genomic deletion of AMBN exon 6 in a second cousin consanguineous family with three of the six children having hypoplastic AI.
|
24858907 |
2014 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have since expanded the number of AI kindreds to 39, and performed mutation analyses covering the coding exons and adjoining intron sequences for the six proven AI candidate genes [amelogenin (AMELX), enamelin (ENAM), family with sequence similarity 83, member H (FAM83H), WD repeat containing domain 72 (WDR72), enamelysin (MMP20), and kallikrein-related peptidase 4 (KLK4)] and for ameloblastin (AMBN) (a suspected candidate gene).
|
22243262 |
2011 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients.
|
11330937 |
2001 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have cloned and characterized a full-length human enamelin cDNA and determined by radiation hybrid mapping and fluorescent in situ hybridization (FISH) that the gene is located on chromosome 4q near the ameloblastin gene in a region previously linked to local hypoplastic AI in six families.
|
10831092 |
2000 |
|
Amelogenesis Imperfecta
|
0.200 |
Biomarker
|
disease |
BEFREE |
Therefore, ameloblastin is a strong candidate gene for this form of amelogenesis imperfecta.
|
10946765 |
2000 |
|
Amelogenesis Imperfecta
|
0.200 |
Biomarker
|
disease |
BEFREE |
The unique hereditary enamel defect clearly related to the disturbance of one enamel matrix protein is X-linked amelogenesis imperfecta (AI), in which several mutations of amelogenin gene have been identified.
|
10618637 |
1999 |
|
Amelogenesis Imperfecta
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21.
|
9126491 |
1997 |
|
Amelogenesis Imperfecta
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dental Enamel Hypoplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dental enamel pits
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of dental color
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Ameloblastoma
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Expression of ameloblastin in human tooth germ is related to differentiation and mineralization, and it correlates with the state of differentiation of the tumour cells in ameloblastoma.
|
29974993 |
2018 |
|
Ameloblastoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
Overexpression of full-length AMBN protein inhibited proliferation of human ameloblastoma AM-1 cells, but overexpression of heparin binding domain-deficient AMBN protein had no inhibitory effect.
|
19648121 |
2009 |
|
Ameloblastoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
The AMBN protein has an important role in the differentiation of ameloblast cells and epithelium-mesenchyme signaling during odontogenesis which prompted us to investigate this gene in aggressive epithelial odontogenic tumors, such as ameloblastomas, and in some non-aggressive ones, such as the adenomatoid odontogenic tumor and the squamous odontogenic tumor.
|
15288841 |
2004 |
|
Ameloblastoma
|
0.040 |
AlteredExpression
|
disease |
BEFREE |
Human ameloblastomas express AMBN transcripts that contain some mutations.
|
11054529 |
2000 |