A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
about
Novel FAM20A mutations in hypoplastic amelogenesis imperfectaThe human enamel protein gene amelogenin is expressed from both the X and the Y chromosomesNovel WDR72 mutation and cytoplasmic localizationRegulation of dental enamel shape and hardnessMutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaStructural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin YThe molecular etiologies and associated phenotypes of amelogenesis imperfectaNovel genetic linkage of rat Sp6 mutation to Amelogenesis imperfectaIdentification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaUltrastructure of early amelogenesis in wild-type, Amelx(-/-), and Enam(-/-) mice: enamel ribbon initiation on dentin mineral and ribbon orientation by ameloblastsEnamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6 Amelx(-/-) mice and Amelx(+/-) lyonizationMorphoregulation of teeth: modulating the number, size, shape and differentiation by tuning Bmp activityRecessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis ImperfectaRelationship of Phenotype and Genotype in X-Linked Amelogenesis ImperfectaEnamelin and autosomal-dominant amelogenesis imperfecta.Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta.Pig amelogenin gene expresses a unique exon 4.MMP-20 is predominately a tooth-specific enzyme with a deep catalytic pocket that hydrolyzes type V collagenAnalyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis ImperfectaA Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.Proteinases in developing dental enamel.Mouse genetic background influences the dental phenotype.The impact of molecular genetics on oral health paradigms.Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development.Molecular cloning and characterization of the bovine and human tuftelin genes.Amelogenin supramolecular assembly in nanospheres defined by a complex helix-coil-PPII helix 3D-structure.Transcription factor FoxO1 is essential for enamel biomineralization.Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.Genes and related proteins involved in amelogenesis imperfecta.The expanded amelogenin polyproline region preferentially binds to apatite versus carbonate and promotes apatite crystal elongationAmelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.Amelogenesis imperfectaOral rehabilitation of a patient with amelogenesis imperfecta.Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.Genetically altered mouse models: the good, the bad, and the ugly.Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
P2860
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P2860
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
description
1991 nî lūn-bûn
@nan
1991 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@ast
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en-gb
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@nl
type
label
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@ast
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en-gb
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@nl
prefLabel
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@ast
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en-gb
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@nl
P2093
P3181
P1433
P1476
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
@en
P2093
M Lagerström
U Landegren
U Pettersson
Y Nakagome
Y Nakahori
P3181
P356
10.1016/0888-7543(91)90187-J
P407
P577
1991-08-01T00:00:00Z