A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome

Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormalities, including hypodontia, and enamel hypoplasia. ARS is genetically associated with mutations in the PITX2 gene, which encodes one of the earliest transcription factors to initiate tooth development. Thus, Pitx2 has long...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2014-01, Vol.23 (1), p.194-208
Hauptverfasser:	Li, Xiao, Venugopalan, Shankar R, Cao, Huojun, Pinho, Flavia O, Paine, Michael L, Snead, Malcolm L, Semina, Elena V, Amendt, Brad A
Format:	Artikel
Sprache:	eng
Schlagworte:	Amelogenin - genetics Amelogenin - metabolism Animal models Animals Anterior Eye Segment - abnormalities Anterior Eye Segment - pathology Cell Line Dental Enamel - metabolism Dental Enamel - pathology Disease Models, Animal Embryo, Mammalian Eye Abnormalities - genetics Eye Abnormalities - pathology Eye Diseases, Hereditary Gene Expression Regulation HMGN2 Protein - genetics HMGN2 Protein - metabolism Homeobox Protein PITX2 Homeodomain Proteins - genetics Homeodomain Proteins - metabolism Humans Incisor - metabolism Incisor - pathology Mice Mice, Knockout Mutation, Missense Promoter Regions, Genetic Transcription Factors - genetics Transcription Factors - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!