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FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)
TLDR
FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS. Expand
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds
TLDR
It is concluded that molar crown and root dysmorphologies are caused by Wnt10A defects and that the severity of the tooth agenesis correlates with the number of defective WNT10A alleles. Expand
Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities
TLDR
Col1A1 and COL1A2 should be considered as candidate genes for DGI and hypodontia when no DSPP mutation is identified in clinically determined isolated DGI cases, it is concluded. Expand
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
TLDR
The approach (from knockout mouse phenotype to human disease) demonstrates the power of mouse reverse genetics in mutational analysis of human genetic disorders and attests to the need for a careful dental phenotyping in large-scale knockout mouse projects. Expand
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.
TLDR
It is concluded that enamel defects can be part of the dental phenotype caused by D SPP mutations, although DSPP is not critical for dental enamel formation. Expand
Ameloblast transcriptome changes from secretory to maturation stages
TLDR
It is concluded that transcriptome analyses are a good starting point for identifying genes/proteins that are critical for proper dental enamel formation and that PAR1 is specifically expressed by secretory stage ameloblasts. Expand
Potential contribution of neural crest cells to dental enamel formation.
TLDR
The NCC lineage is reevaluated during mouse tooth development by using P0-Cre/R26R mice, another NCC-specific transgenic mouse line, and it is demonstrated that the P 0-Cre transgene was specifically expressed in migrating NCC in the hindbrain region, where NCC contributes to tooth, validating their applicability for N CC lineage analysis. Expand
Fam83h null mice support a neomorphic mechanism for human ADHCAI
TLDR
The results support the conclusion that FAM83H is not necessary for proper dental enamel formation in mice, but may act as a scaffold protein that localizes CK1. Expand
Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation
TLDR
It is concluded that WDR72 serves critical functions specifically during the maturation stage of amelogenesis and is required for both protein removal and enamel mineralization. Expand
FAM20C Functions Intracellularly Within Both Ameloblasts and Odontoblasts In Vivo
TLDR
It is concluded that FAM20C is not a constituent of the enamel extracellular matrix and functions intracellularly within ameloblasts, which is a radical departure from current theories. Expand
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