Mutations in the genes encoding fibrillin, an extracellular matrix protein involved in providing elastic properties to the connective tissues, may result in specific craniofacial and oral anomalies. A number of craniofacial (retrognathia, dolichocephaly, high palate) and dental (root deformity, pulp calcification) manifestations are considered pathognomic for the Marfan syndrome (MFS), a condit...

The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcription...

Amyloid beta (Aβ) peptides are known to accumulate in the brain of patients with Alzheimer's disease (AD). However, the link between brain amyloidosis and clinical symptoms has not been elucidated and could be mediated by secondary neuropathological alterations such as fiber tracts anomalies. In the present study, we have investigated the impact of Aβ overproduction in APPxPS1 transgenic mice o...

X-linked recessive ocular albinism type I (OA1) is due to mutations in the OA1 gene (approved gene symbol GPR143), which is expressed in the retinal pigment epithelium (RPE). The Oa1 (Gpr143) knockout mouse (Oa1(-/-)) model recapitulates many of the OA1 retinal morphological anomalies, including a lower number of melanosomes of increased size in the RPE. The Oa1(-/-) mouse also displays some of...

Present investigation reports the mutagenic efficacy of sodium azide with a view to study its effects on meiotic behavior and phenotypic quantitative traits of Brassica campestris L. Seeds were treated with three concentration of sodium azide i.e. 0.3%, 0.5% and 0.7%, along with control. Morphological/phenotypic parameters studied were plant height, number of primary branches, number of seconda...

Dictionaries are reference resources for learning and diffusing natural languages. Their contents must be enriched carefully due to their importance. However, such contents might contain errors and inconsistencies that are hard to detect manually. Several researches have been made in recent years in order to perform this step automatically. However, they have dealt with the problem in a superfi...

The unique differentiation program of the ductus arteriosus (DA) is essential for its specific task during fetal life and for the adapting circulation after birth. Phenotypic changes occur in the DA during the normal maturation and definitive closure. Morphological abnormalities of the vessel wall characterize the persistent DA (PDA) in older children. Here, we give an overview of the animal mo...

T ooth eruption with little or no root development is rare and is usually associated with neonatal teeth or defects in root formation due to irradiation therapy of the head and neck. Possible causes of root absence are hereditary anomalies such as dentinal dysplasia, morphological anomalies known as dystrophies, and idiopathic root resorption. A tooth in a very early stage of root development c...

GENETIC imbalance, the result of aneuploidy or chromosomal structural rearrangements, is now recognized as a cause of anomalous embryogenesis. In general, the anomalies have been extensive and severe when the chromosomal abnormalities have affected segments lengthy enough to be detected by use of currently available techniques. The purposes of the present study were: (1) to determine the incide...