A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta

scientific article

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDQ001
P932PMC publication ID2838535
P698PubMed publication ID20067920
P5875ResearchGate publication ID41000594

P50authorMartin John BarronQ43081967
Jennifer KirkhamQ47857077
Steven J. BrookesQ47858016
P2093author name stringMichael J Dixon
C Adrian Shuttleworth
Aleksandr Mironov
Nicola J Kingswell
Roger C Shore
Charlotte Hunt
Joanne Maycock
P2860cites workFAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfectaQ24655763
Amelogenin-deficient mice display an amelogenesis imperfecta phenotypeQ28201910
Partial rescue of the amelogenin null dental enamel phenotypeQ28275176
Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)Q28506893
The cell adhesion molecule nectin-1 is critical for normal enamel formation in miceQ28512798
Amelogenin interacts with cytokeratin-5 in ameloblasts during enamel growthQ30905484
Reduced hydrolysis of amelogenin may result in X-linked amelogenesis imperfectaQ32062841
Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.Q33934308
Genes and related proteins involved in amelogenesis imperfectaQ34469661
Amelogenesis imperfecta: prevalence and incidence in a northern Swedish countyQ34688680
Relationship of phenotype and genotype in X-linked amelogenesis imperfectaQ35210376
Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblastsQ36322570
Enamel formation and amelogenesis imperfectaQ36878846
A mouse model expressing a truncated form of ameloblastin exhibits dental and junctional epithelium defectsQ37307787
Synergistic roles of amelogenin and ameloblastin.Q37379230
Tyrosyl motif in amelogenins binds N-acetyl-D-glucosamineQ38329352
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classificationQ39610085
Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish countyQ41425001
The enamel protein amelogenin binds to the N-acetyl-D-glucosamine-mimicking peptide motif of cytokeratinsQ41760641
Histological and three dimensional organization of the odontogenic organ in the lower incisor of 100 gram ratsQ41990277
Amelogenin-cytokeratin 14 interaction in ameloblasts during enamel formationQ43653378
Quantitative analysis of cell turnover in the enamel organ of the rat incisor. Evidence for ameloblast death immediately after enamel matrix secretionQ44106443
Enamelin compartmentalization in developing porcine enamelQ44253998
Immunochemical and immunohistochemical studies, using antisera against porcine 25 kDa amelogenin, 89 kDa enamelin and the 13-17 kDa nonamelogenins, on immature enamel of the pig and rat.Q44283596
Thiocyanate Induces Cell Necrosis and Fibrosis in Selenium- and Iodine-Deficient Rat Thyroids: A Potential Experimental Model for Myxedematous Endemic Cretinism in Central AfricaQ44590720
Evidence for amelogenin "nanospheres" as functional components of secretory-stage enamel matrix.Q44987880
Interaction between the enamel matrix proteins amelogenin and ameloblastinQ45069162
A developmental comparison of matrix metalloproteinase-20 and amelogenin null mouse enamelQ46281906
Cellular and chemical events during enamel maturationQ46291772
Molecular cloning and DNA sequence of rat amelogenin and a comparative analysis of mammalian amelogenin protein sequence divergenceQ48085590
Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome.Q52036101
Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype.Q52113450
Cloning, characterization, and heterologous expression of exon-4-containing amelogenin mRNAs.Q52196465
Spatially related amelogenin interactions in developing rat enamel as revealed by molecular cross-linking studies.Q52863669
A Mutation in the Enamelin Gene in a Mouse ModelQ57315040
Expression of the proto-oncogene int-1 is restricted to specific neural cells in the developing mouse embryoQ63487544
Course of alcoholic chronic pancreatitis: a prospective clinicomorphological long-term studyQ71235042
[Decubitus ulcers--how to measure the risks]Q73080112
An amelogenin gene defect associated with human X-linked amelogenesis imperfectaQ73428560
Mutational analysis of X-linked amelogenesis imperfecta in multiple familiesQ73434208
The development in vivo and in vitro of the lower incisor and molars of the mouseQ79517187
Transgenic mice that express normal and mutated amelogeninsQ80032917
Ameloblastin and amelogenin share a common secretory pathway and are co-secreted during enamel formationQ80722397
P433issue7
P921main subjectamelogenesis imperfectaQ461854
P304page(s)1230-1247
P577publication date2010-01-12
P1433published inHuman Molecular GeneticsQ2720965
P1476titleA mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta
P478volume19

Reverse relations

cites work (P2860)
Q28590227A solution NMR investigation into the impaired self-assembly properties of two murine amelogenins containing the point mutations T21→I or P41→T
Q55440549Ablation of Runx2 in Ameloblasts Suppresses Enamel Maturation in Tooth Development.
Q41367065Ameloblastin peptide encoded by exon 5 interacts with amelogenin N-terminus
Q39427065Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Q30847420Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress
Q34517566Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.
Q35697998Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.
Q46280920Enamel: a unique self-assembling in mineral world
Q30575474Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate
Q33627965FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?
Q38542685Folding, assembly, and aggregation of recombinant murine amelogenins with T21I and P41T point mutations
Q41950873Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
Q36167278Improved protocol to purify untagged amelogenin - Application to murine amelogenin containing the equivalent P70→T point mutation observed in human amelogenesis imperfecta
Q38877817Modeling craniofacial and skeletal congenital birth defects to advance therapies.
Q43081816Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations
Q42200152Preparative SDS PAGE as an Alternative to His-Tag Purification of Recombinant Amelogenin
Q37565800Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects.
Q28485341Scube3 is expressed in multiple tissues during development but is dispensable for embryonic survival in the mouse
Q41688608The Unfolded Protein Response in Amelogenesis and Enamel Pathologies
Q37876849Tooth evolution and dental defects: from genetic regulation network to micro-RNA fine-tuning
Q34146020Transcription factor FoxO1 is essential for enamel biomineralization
Q28484095UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development
Q28586762WDR72 models of structure and function: a stage-specific regulator of enamel mineralization

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