The overlap is most pronounced in the limb developmental defects, which likely originate in defective development of the apical ectodermal ridge or maintenance of stem cells of this specialized epithelium.
High ROS levels can be indicative of defective antioxidant machinery or an inhibition/block in the electron transport chain, and elevated ROS and impaired oxidative phosphorylation have been linked with defective development and meiotic spindle defects.
Opitz BBB/G syndrome (OS) is a heterogeneous malformation syndrome resulting from defective development of the ventral midline and is characterised by hypertelorism, hypospadias, cleft lip and palate, tracheo-esophageal malformations and congenital heart defects (Opitz et al. 1969a, b).
A deficiency of Chk2 partially rescued the defective development and growth of BRCA1 deficient T-cells but enhanced tumour development.
The congenital, but not hereditary, T-cell deficiency disease called DiGeorge syndrome arises from a developmental defect occurring in the fetus that results in the defective development of the thymus.
In contrast to the renal phenotype in betaglycan+/− mice, in vivo stereological analysis and in vitro culture of betaglycan−/− metanephroi revealed a hypoplastic renal phenotype that closely resembled the defective development of Tgfb2 null explants [6].
Indeed, mice with XBP1 or PERK deficiency exhibit defective development of exocrine pancreas [24] [26], suggesting an indispensable role for UPR in countering the fluctuating stress associated with food intake.
Loss of miRNA function often results in defective development and patterning [ 11- 14], indicating an essential role in animal development.
Defective development of tooth enamel or dentin is a significant dental problem for children and adolescents in various respects, and dentists and other oral health workers find managing these problems challenging and stressful.
A hernia may be present at birth as the result of defective development of the abdominal wall, or it may occur later in life as the result of an injury.
