Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia +12 more
core +1 more source
Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation
In this study, we investigated the role of the transcription factor Six2 in palate development. Six2 was selected using the SysFACE tool to predict genes from the 2p21 locus, a region associated with clefting in humans by GWAS, that are likely to be involved in palatogenesis.
Yan Yan, Sweat +13 more
openaire +2 more sources
In mammals, taste buds develop in different regions of the oral cavity. Small epithelial protrusions form fungiform papillae on the ectoderm-derived dorsum of the tongue and contain one or few taste buds, while taste buds in the soft palate develop ...
Ralf Kist +6 more
doaj +1 more source
Molecular and Genetic Basis of Non-Syndromic Tooth Agenesis
Background: Tooth agenesis represents the most common anomaly of dental development, which according to Online Mendelian Inheritance in Man (OMIM) database, affects approximately 20% of the population.
L. Kramerová +3 more
doaj +1 more source
A review on non-syndromic tooth agenesis associated with PAX9 mutations
Summary: Tooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis.
Nurul Hasyiqin Fauzi +3 more
doaj +1 more source
Familial aggregation of maxillary lateral incisor agenesis [PDF]
In spite of recent developments, data regarding the genes responsible for the less severe forms of hypodontia are still scarce and controversial. This study addressed the hypothesis that agenesis of maxillary lateral incisors (MLIA) is a distinct type of
A. Sousa +10 more
core +1 more source
Characterization of Zebrafish Pax1b and Pax9 in Fin Bud Development [PDF]
Both Pax1 and Pax9 belong to the important paired box gene family (PAX), which mainly participates in animal development and sclerotome differentiation. To date, the precise molecular mechanism and related signaling pathway of Pax1 remain unclear. In our study, microinjection of morpholino- (MO-) modified antisense oligonucleotides againstpax1binduced ...
Chen, Xuemei +15 more
openaire +2 more sources
Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review [PDF]
Objectives: In the present study, it is described the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities ...
Arte, Sirpa +5 more
core +1 more source
Vascular endothelium plays a key role in directing pulmonary epithelial cell differentiation. [PDF]
The vascular endothelium is critical for induction of appropriate lineage differentiation in organogenesis. In this study, we report that dysfunctional pulmonary endothelium, resulting from the loss of matrix Gla protein (MGP), causes ectopic hepatic ...
Blazquez-Medela, Ana M +9 more
core +2 more sources
Pax proteins in embryogenesis and their role in nervous system development [PDF]
The mammalian Pax genes encode a family of transcription factors, which play important roles in embryonic development and organogenesis. During the central nervous system development Pax genes have substantial roles in neural differentiation and regional
Arend, Andres +2 more
core +3 more sources

